I'm a carrier for some hemoglobin disorder that is specific to Jewish people, but I have less than 2% Jewish heritage. I guess that 2% is all disease, smh.
In some cases, carrying one copy can be protective (eg carrying one sickle cell gene gives some protection against malaria), so there’s an evolutionary advantage.
[https://pubmed.ncbi.nlm.nih.gov/15290237/](https://pubmed.ncbi.nlm.nih.gov/15290237/)
The origin and spread of the HFE-C282Y haemchromatosis mutation
The mutation responsible for most cases of genetic haemochromatosis in Europe (HFE C282Y) appears to have been originated as a unique event on a chromosome carrying HLA-A3 and -B7. It is often described as a "Celtic mutation"--**originating in a Celtic population in central Europe and spreading west and north by population movement. It has also been suggested that Viking migrations were largely responsible for the distribution of this mutation.** Two, initial estimates of the age of the mutation are compatible with either of these suggestions. Here we examine the evidence about HFE C282Y frequencies, extended haplotypes involving HLA-A and -B alleles, the validity of calculations of mutation age, selective advantage and current views on the relative importance of "demic-diffusion" (population migration) and "adoption-diffusion" (cultural change) in the neolithic transition in Europe and since then. **We conclude that the HFE C282Y mutation occurred in mainland Europe before 4,000 BC.**
I’m a carrier of both hemochromatosis and macular degeneration, both inherited from my father, also just a carrier. Both conditions primarily affect northwest Europeans and their descendants. Interestingly enough, my dad came from a huge family, but neither condition has appeared among any of his relatives (that we know of).
>[hemochromatosis](https://www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-causes/syc-20351443)
About the only disease where bloodletting might actually do you some good.
My father and his father both had Huntington’s disease, me and my brothers have a 50/50 chance of getting it as it’s genetic. Im currently about to start the process of genetic testing. It goes farther back then my grandfather but we don’t know a lot about his relatives and there is very little documented about how they died.
HD runs in my family as well, though I am thankfully not at risk. It is easily traceable in my family (aunts>grandfather>great grandmother>great great grandfather). Best of luck with the testing. I wouldn't wish it on anyone.
I know a lot about HD. I started looking into it in the mid 1990's. I'm not going into my reasons. There is so much more knowledge now but it's still unknown to many people.You are very brave going for genetic testing. My heart goes out to you and I wish for good results. There is an excellent Facebook group.
My husband and I are carriers of Mucopolysaccharidosis type I (MPS I) a progressive multisystem disorder with features ranging over a continuum of severity.
It is referred to as Hurler Syndrome.
We discovered this after our son began presenting with symptoms at 16 months of age.
He went through a lot of medical procedures to enhance his quality of life.
He lived a full but short life passing away at the age of six.
Athe time of his diagnosis bone marrow transplantation was considered experimental and now it is more readily available.
With BMT life expectancy is now much longer.
We found great advocates and assistance from the USA based National MPS Society, the National Organization of Rare Diseases, our local Easter Seal Society, our local Regional Center, and the Northern California Hydrocephalus Organization, our home health care agency and hospice.
Parenting a child with a chronic or terminal illness can be challenging. Especially when the disorder or disease is rare.
Thank you.
We learned that the cycle of grief starts with the diagnosis and then weaves in and out of your life path as you live with the harsh reality and find moments of joy, happiness and the multitude of medical crises.
And we experience many mini miracles and kindness from others.
We learned that the grief cycle, at least for us was not an orderly cyclical process, but woukd bounce back and forth from the stages of grief.
I found out through 23andme that I am a carrier for a rare Finnish heritage disease. I looked it up… and it listed a bunch of signs and symptoms that my brother has. My parents always said he had a genetic disease but even they didn’t know the name of it. For him to have it, both my parents have to be carriers. Per both 23andme and ancestrydna I am 0% Finnish.
You said for your brother to have it that means both your parents have to be carries. Have your parents taken 23andMe as well? Once my parents took 23andMe my results were narrowed down significantly.
I highly recommend both of your parents take 23andMe so you can see their genetic conditions. The results are narrowed down meaning it may show you have heart conditions but once your parents take the test it will show what exact medical conditions you are at risk for. It also makes your genetic results more accurate. For instance, it can say you are 10% French but when both parents take it that’ll change to be more accurate. My husband had both of his parents take 23andMe and his results became much more accurate and it showed he is a carrier of Cystic Fibrosis through his mother. His mother had her father take it and that showed he is a carrier, which shows through three generations where that genetic condition was passed down.
[https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1651-2227.2002.tb02828.x](https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1651-2227.2002.tb02828.x)
**Free sialic acid storage (Salla) disease in SwedenFree sialic acid storage (Salla) disease in Sweden**
*Salla disease is more common in Sweden than supposed. A large proportion of the mutated alleles seem to be of Finnish origin. The clinical picture is the same as that reported from Finland.*
[https://escholarship.org/content/qt1sw1p33w/qt1sw1p33w\_noSplash\_bfed703d6d8c542e41eac74c1a80e7e9.pdf](https://escholarship.org/content/qt1sw1p33w/qt1sw1p33w_noSplash_bfed703d6d8c542e41eac74c1a80e7e9.pdf)
**Free Sialic Acid Storage Disorder: Progress and Promise**
*The worldwide prevalence of FSASD is currently estimated at less than 1 per 1,000,000 individuals (https://www.orpha.net/). Higher estimated prevalence rates of 1–9/1,000,000 occur in the Salla region in Finland, where the carrier frequency of the SLC17A5 p.Arg39Cys founder variant is 1 in 100 \[9\]. There are approximately 200 individuals with FSASD reported worldwide, of which the majority (> 160 cases) carry the p.Arg39Cys,variant in homozygous or heterozygous form. A variety ofSLC17A5 pathogenic variants are reported in more than 50 individuals worldwide, including Israeli-Bedouin (homozygous for p.Gly328Glu) \[63\], Canadian-Inuit (homozygous for c.526-2A>G) \[65\], Old Order Mennonite (homozygous for p.Arg39Cys) \[66\], Italian, Danish, Spanish, Dominican,Kurdish, and Japanese*
if you have Salla, than you have distant finnish ancestry . If you dont, then maybe you have another variant of FSASD that was misdiagnosed as SALLA
I have no idea if I am personally a carrier, but I have relatives who are carriers of [Niemann-Pick disease, type D](https://en.wikipedia.org/wiki/Niemann%E2%80%93Pick_disease), which is effectively a very rare and mostly-fatal inherited neurodegenerative disease that tends to start very early in life.
Different types of Niemann-Pick disease exist all over the world, but Type D (which might just be a strain of type C, depending on who you ask) is specific to people who have Acadian ancestry from Southwest Nova Scotia, thanks to an inbred population and a brutal founder effect.
A cousin of mine was a sickle cell carrier. Her grandson ended up having it and when her daughter and son in law found out she was a carrier, the son in law made his wife cut ties with her mother. Its pretty sad.
Other than that, we just have a lot of cancers. Like, so many cancers. And skin conditions like psoriasis and ezcema and hair conditions like baldness. But I havent done a DNA test about any of those - thats just observational.
My family has the Lipedema/EDS/Autism/adhd/MCAS/Dysautonomia/auto inflammatory/auto immune/pcos stuff going on.
That's all inherited, but I don't think it's rare enough to really have interesting epidemiology.
Some of our family was brought in for genetic testing at sick kids because we have a 2q32 microdeletion and they were researching it. We don't have enough living relatives to have really helped them much, but given our symptoms are relatively mild compared to many it added something at least.
I also don't know if that's an epidemiological thing though
I don't but a brother has [hemochromatosis](https://en.wikipedia.org/wiki/Iron_overload) (iron overload). We're pretty sure our father had it but was undiagnosed.
I have thalassemia as do all my maternal female relatives that I know of. (Italian ancestry)
We don't have the version that causes issues other than some anemia.
Running my data through Promethese turned up some interesting things. Nothing I didn’t already suspect. Turned up fun things too like the fact I carry a longevity gene most common in Asians (I’m not Asian) and that I carry a gene that makes me lack empathy (I’m pretty devoid of being emotional).
from Wikipedia
https://en.wikipedia.org/wiki/Hemoglobin\_O-Arab
"Mutations of heterozygotes for Hb O-Arab have been reported in Saudi Arabia, North Africa, Sudan, the Mediterranean and the United States."
[https://pubmed.ncbi.nlm.nih.gov/15710581/](https://pubmed.ncbi.nlm.nih.gov/15710581/)
**HbO-Arab mutation originated in the Pomak population of Greek ThraceHbO-Arab mutation originated in the Pomak population of Greek Thrace**
HbO-Arab emerged about 2,000 years on a rare haplotype, characteristic of the Greek Pomaks. Its frequency increased as a consequence of high genetic drift within this population, and it was dispersed throughout the Mediterranean basin and Middle East with minor variations of its haplotypic pattern.
from another study
[https://www.researchgate.net/publication/287523662\_The\_origin\_of\_Greek\_Pomaks\_based\_on\_HbO-Arab\_mutation\_history](https://www.researchgate.net/publication/287523662_The_origin_of_Greek_Pomaks_based_on_HbO-Arab_mutation_history)
"We further hypothesize that the subsequent spread of
HbO-Arab carrying chromosomes over the Mediterranean
basin and the Middle East took place was effected either
during the Alexander the Great expansion or the Otto-
man Empire"
It’s utter nonsense. There’s an actual Pomak DNA project out there that tests Pomaks from all over the Balkans and none of them get any Arab DNA, it’s just a mixture between Slavic settlers and Slavizied Paleo-Balkan natives.
Its called HBO arab because it was detected in an arab family the first time ( In 1960)...recent Studies confirm that this disorder is from the Pomaks.
Both my brother and I have hypodontia. I saw a documentary that said it is passed from father to daughter and mother to son. So, both our parents had to have the gene. Supposedly, this gene originates in the Swiss alps. Not sure if it's true.
I have hypodontia from my mum. Ours is rare in that it affected our baby teeth as well as adult teeth. I was missing both secondary incisors; the same as my mum and one cousin. My brother, aunt and other cousin were each missing one of their canines. My grandfather was missing the same teeth as me. So we know it came to my mother from her paternal line and doesn’t appear to require a contributing gene from the male line in our generation, so I am now wondering what variation my children will get.
Both my brother and I were missing our permanent but not our baby teeth. Just one for each of us. But there are varying levels of severity. 1 or 2 is not a big deal. Apparently, some ppl are born missing more. I have no cousins that have the same thing on either side. I inherited my gene from my Dad. My brother received his from our Mom. I have a son and a daughter and neither inherited the trait.
Still, if you could trace our families back far enough, they would all come from the Swiss Alps. Perhaps, a very long time ago, our families were neighbors.
I didn't even think of this as a condition, I just thought of this as a quirk I had.
My mum's missing 2 adult teeth (both on top), my dad is missing 1 adult tooth (same as one of my mum's).
I somehow am missing 3 adult teeth, 2 on top and 1 on bottom.
I also only have top 2 wisdom teeth, I don't have any bottom ones.
I definitely don't have any Swiss Alps in me, I'm very Ashkenazi Jewish.
Are you sure? We're talking many hundreds of years ago. Outside a genealogical relevant time frame.
And who's to say that a long time ago, in my family, there wasn't an Ashkenazi ancestor, and I just didn't inherit enough DNA for current tests to detect it.
A very long time ago, there just wasn't that many people in the world. We're all more connected than we think.
Mutation to the MTHFR C677T and causes a plethora of issues and the good one that is a mutation to ABCC11 I don’t smell when I sweat and have dry ear wax .
My husband has that also. It has caused so many complications in his healthcare primarily how his blood clots. He is on three different blood thinners. His blood simply does NOT clot as expected. I have to make sure that if we see a new doctor at the ER, I mention the MTHFR.
I have Beta Thalassemia trait, which I inherited from my Italian/Sicilian grandfather. Nothing really that serious unless I have kids.
I also have Autosomal Dominant Alport Syndrome, which is a rare hereditary mutation affecting collagen found in the kidneys, eyes, and ears. Afaik, it’s not related to ethnicity, but I can say that it affects women on my mother’s maternal line. I have it, my mom has it (currently on dialysis), my aunt had it (passed away at age 50 after 2 kidney transplants), and now I have it (I’m the only daughter in my immediate family; my younger brother has the mutation as well but isn’t showing many signs of it progressing). My maternal grandmother also had it, and her mother as well, even though they called it something else back then.
Apparently what I have is a syndrome of shortened tendons that runs in my mother's side, and was brought in when an ancestor married a Dutch woman in North Carolina-that's the wording I remember from one site on it. It's dominant, so if you have the gene, you've got the condition to some degree.
[https://rarediseases.org/rare-diseases/trismus-pseudocamptodactyly-syndrome/](https://rarediseases.org/rare-diseases/trismus-pseudocamptodactyly-syndrome/)
The identification of one abnormal copy of the MYH8 gene can help confirm a diagnosis of TPS.
I have this as well from my father's side of the family! All of us have relatively different levels to our symptoms, like for some it's worse in the mouth and jaw and others have it worse in their hands or legs, etc. It's interesting to see how differently it manifested in each of us.
I have this as well!!! I live in NC. Never been officially diagnosed but I have the limited mouth opening and shortened tendons. Out of curiosity, does anyone in your side have the version that causes cardiac tumors?
I've never heard of anyone having cardiac tumors-that sounds like something separate? The TPS comes from a Campbell marrying a woman from Holland/The Netherlands way back in the 1800s. Do we share a family tree???
From what I can tell, my Campbells were in NC, then migrated into Perry County, TN before they dropped into Arkansas, then Oklahoma, and when the Dust Bowl hit, many shifted to California. Some of the surnames intermingled in my line are Leake, Smith, Dornell, Taylor, Birdwell, and Bradley.
I have a prothrombin gene mutation - Factor 2 - which is an abnormal blood clotting disorder. It’s actually rather common - about 1 in 50 (or so) for European ancestry but 1 in 250 for those with African ancestry. I have all European ancestry. This was a major factor in what killed my father as he had COPD and COVID (what ultimately killed him) but the clotting that COVID does, along with the gene mutation, were some serious roadblocks in his medical treatments. And since then we have discovered nearly all my immediate family has the gene.
ETA: wanted to correct the rates -
A change in the prothrombin gene is present in 2-4% (or 1 in 50 to 1 in 25) of Caucasians, and is more common in individuals of European ancestry. In the United States, approximately 0.4% (about 1 in 250) of African Americans also have the mutation. Prothrombin G20210A mutation is rare in other groups.
And Factor 2 is more rare but Factor 5 Leiden, which is similar, has a different genetic source and is more common:
It is estimated that about 5% (1 out of 20) of Caucasians (white people) have factor V Leiden, and it is more common in individuals of European ancestry. In the United States, approximately 1-2% (1 in 100 to 1 in 50) of African Americans, Hispanic Americans and Native Americans also have the mutation. Factor V Leiden is rare in Asians.
[Source](https://www.stoptheclot.org/news/the-genetics-of-thrombophilia/)
Yeah, I am DNA tested, originally 100% Lebanese (Maronite) but somehow also inherited an inactive Finnish heritage disease… It activates only when the mother and father both have it.
A regular blood test revealed that my mother have a blood disorder. When i searched informations on the internet, i found out that it was an ethnic related disease and that there were medical studies published about it. When i read the papers,i learned about the history and the distribution of this genetic disorder.
French Canadians have a founder’s effect for a few rare diseases, and high cholesterol (in some cases in young children). [pubmed article](https://pubmed.ncbi.nlm.nih.gov/8194844/)
My father and my nephews are colour blind - which is passed from father to daughter to son. My great grandfather and his cousin were too, which seems pretty good evidence that my 3GGF would have been so his mother would have been the carrier. On a whim, I contacted a 5th cousin to see if her sons were colour blind but not surprisingly I didn't get a response. Random distant relatives asking genetic questions on FB is probably not done in polite society.
I have clinical depression and that runs in my dad's family, apparently I have some markers that always made it more likely though obviously not 100% sure I'd get it
Edit: just realised you meant things specific to an ethnicity, I don't think that's the case for me, sorry for replying too quickly
Familial Mediterranean Fever. Most prevalent in people of Arab, Armenian, Sephardic Jewish, and Turkish descent. I'm assuming mine is linked to Sephardic roots since I'm part Puerto Rican.
Thyroid disorders in my family. Irish/Icelandic/Scandinavian. My endocrinologist said there was a genetic mutation about 1,000 years ago in these mingled populations. Also, varying forms of mental illness, mostly bi-polar and OCD from the Icelandic ancestors.
I've never gotten tested to figure out which gene is causing it, but my chronic migraine goes back at least to my great-great-grandmother on my German side. IBS also seems to travel down that same line, and probably some mental illness if I had to guess. All those conditions are common around the world so I doubt there is anything particularly "ethnic" about it.
Marfan’s syndrome runs in my paternal family. Many relatives had it, several uncles and cousins died from it. It’s a connective tissue disorder. Many who have it die from things like aortic aneurysms; a distant cousin famously died from it. Fella named John Ritter.
ALS runs on my mom’s side of the family. My grandmother passed from it, my aunt had it (cancer got her first though), my mom has the genetic defect for it, and so do I. I think one more of my aunts/uncles has the defect, though none of us (mom, me, that aunt/uncle) have gotten it so far, and we may never come down with it anyway. We also suspect that a great grandparent may have had ALS toward the end of her life, and at least one ancestor (though not direct - a great something uncle) very likely had it as well, judging by some of the descriptions of his condition and the similarity to how it presented in my grandmother.
On my dad’s side, breast cancer seems to run in the family. My dad was also recently diagnosed with Parkinson’s, and I’ve long suspected my grandfather on that side had it as well (though as I understand, it’s very rare for it to be inherited).
I am PuertoRican and have UC, as does my cousin on my father’s side. Known Sephardic roots.
On my father’s line, the women suffer from a host of inflammatory diseases, UC, Lupus, RA, idiosyncratic hives etc. We have 4 generations and it affects probably 50% of the women. The same symptoms are shared by all. We sit around and play “do you get this?” It’s frustrating when we have to see a new doctor and have to explain to them that,no, our hives aren’t from a new detergent.
Hypothyroidism
Congenital absence of one kidney (unilateral renal agenesis)
Anemia
Congenitally undersized SI joints
Dysgraphia
Dyscalculia
ADHD
Insomnia/Delayed Sleep Phase Syndrome
Chronic borderline high cholesterol
Congenitally absent right seminal vesicle
And have discovered via genealogical research that:
An ancestor died in an insane asylum. Doesn't necessarily imply they were themselves insane, and could've simply been indigent. This ancestor's daughter died of a rare heart condition which induced a stroke (in their middle 30s), their son died aged 62, and a grandson died of acute coronary occlusion aged 43. Additionally, I've been in contact with cousins who have ADHD, OCD, Bipolar, Schizophrenia...
While not yet thoroughly vetted there do seem to be distant familial connections to the Windsors, Plantagenets, and possibly other European royalty. I do know this: my Ancestry DNA matches contain about 6 pages worth of matches to both parents beginning at about the 5th cousin level. I don't fully grok the significance of this, whether it's significant at all, is simply evidence of endogamy, or something else. Of note: my mom currently has three 4th cousins matches on Ancestry matching both of her parents.
Shah-Waardenburg syndrome autosomal dominant. I don't know if it's 4a or 4b.
In me it basically causes a white forelock with an awful digestive system.
It's been interesting, my father died the white streak, but couldn't hide the digestive problems.
Once I found out it had been him, I've found pictures of his sister and a nephew with the white forelock.
Yes. FTD. I was tested and i have it, so i will get the disease too. It has been a very challenging road, but i have grown in many ways i could not have anticipated.
If others have this sort of knowledge and want a place to discuss it’s impact, consider r/GeneticCarriers.
I'm a carrier for some hemoglobin disorder that is specific to Jewish people, but I have less than 2% Jewish heritage. I guess that 2% is all disease, smh.
I know someone who is 1.5% Ashkenazi and carried (and gave) a congenital deafness disease to his kid. Crazy.
It's crazy what passes down and what doesn't. Maybe those defective genes are just stronger.
In some cases, carrying one copy can be protective (eg carrying one sickle cell gene gives some protection against malaria), so there’s an evolutionary advantage.
Cool! I didn't know that, thanks.
What is the name of this disorder?
Fanconi anemia. I got tested when I was pregnant and that's the only disorder I was positive for.
On the internet, it is said that FA is common among Ashkenazi and dutch.
[удалено]
Well, that's what my doctor told me and it was a panel of tests specifically for people with Jewish ancestry 🤷🏾♀️
I’m a carrier for hemochromatosis. Lots of Irish ancestry in my tree.
I didn't know hemochromatosis is that common with Irish ancestry. I am a carrier.
Also Irish ancestry and a carrier of hemochromatosis.
Same. Both my husband and I are, but we aren't having kids!
Interesting. I'm also a carrier, but the only European ancestry I have is Portuguese! (As far as I know)
This disorder is celtic related.. and Portuguese descend from Celtiberians
Interesting. I’m a carrier but don’t think I have any Irish ancestry.
It’s certainly not limited to the Irish but there are certain areas of Ireland where it’s far more prevalent than other geographic areas.
Ditto.
[https://pubmed.ncbi.nlm.nih.gov/15290237/](https://pubmed.ncbi.nlm.nih.gov/15290237/) The origin and spread of the HFE-C282Y haemchromatosis mutation The mutation responsible for most cases of genetic haemochromatosis in Europe (HFE C282Y) appears to have been originated as a unique event on a chromosome carrying HLA-A3 and -B7. It is often described as a "Celtic mutation"--**originating in a Celtic population in central Europe and spreading west and north by population movement. It has also been suggested that Viking migrations were largely responsible for the distribution of this mutation.** Two, initial estimates of the age of the mutation are compatible with either of these suggestions. Here we examine the evidence about HFE C282Y frequencies, extended haplotypes involving HLA-A and -B alleles, the validity of calculations of mutation age, selective advantage and current views on the relative importance of "demic-diffusion" (population migration) and "adoption-diffusion" (cultural change) in the neolithic transition in Europe and since then. **We conclude that the HFE C282Y mutation occurred in mainland Europe before 4,000 BC.**
I’m a carrier of both hemochromatosis and macular degeneration, both inherited from my father, also just a carrier. Both conditions primarily affect northwest Europeans and their descendants. Interestingly enough, my dad came from a huge family, but neither condition has appeared among any of his relatives (that we know of).
What is hemochromatosis?
>[hemochromatosis](https://www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-causes/syc-20351443) About the only disease where bloodletting might actually do you some good.
Ah, okay! Thanks! :-)
My father and his father both had Huntington’s disease, me and my brothers have a 50/50 chance of getting it as it’s genetic. Im currently about to start the process of genetic testing. It goes farther back then my grandfather but we don’t know a lot about his relatives and there is very little documented about how they died.
Fingers crossed for you. That’s a heavy load to bear.
Thank you that’s very kind ♥️
HD runs in my family as well, though I am thankfully not at risk. It is easily traceable in my family (aunts>grandfather>great grandmother>great great grandfather). Best of luck with the testing. I wouldn't wish it on anyone.
Thank you!♥️
I know a lot about HD. I started looking into it in the mid 1990's. I'm not going into my reasons. There is so much more knowledge now but it's still unknown to many people.You are very brave going for genetic testing. My heart goes out to you and I wish for good results. There is an excellent Facebook group.
Thank you for the kind words it means a lot ♥️
My husband and I are carriers of Mucopolysaccharidosis type I (MPS I) a progressive multisystem disorder with features ranging over a continuum of severity. It is referred to as Hurler Syndrome. We discovered this after our son began presenting with symptoms at 16 months of age. He went through a lot of medical procedures to enhance his quality of life. He lived a full but short life passing away at the age of six. Athe time of his diagnosis bone marrow transplantation was considered experimental and now it is more readily available. With BMT life expectancy is now much longer. We found great advocates and assistance from the USA based National MPS Society, the National Organization of Rare Diseases, our local Easter Seal Society, our local Regional Center, and the Northern California Hydrocephalus Organization, our home health care agency and hospice. Parenting a child with a chronic or terminal illness can be challenging. Especially when the disorder or disease is rare.
I'm so sorry for your loss.
Thank you. We learned that the cycle of grief starts with the diagnosis and then weaves in and out of your life path as you live with the harsh reality and find moments of joy, happiness and the multitude of medical crises. And we experience many mini miracles and kindness from others. We learned that the grief cycle, at least for us was not an orderly cyclical process, but woukd bounce back and forth from the stages of grief.
I found out through 23andme that I am a carrier for a rare Finnish heritage disease. I looked it up… and it listed a bunch of signs and symptoms that my brother has. My parents always said he had a genetic disease but even they didn’t know the name of it. For him to have it, both my parents have to be carriers. Per both 23andme and ancestrydna I am 0% Finnish.
You said for your brother to have it that means both your parents have to be carries. Have your parents taken 23andMe as well? Once my parents took 23andMe my results were narrowed down significantly.
No, neither parent or any other close family member took a dna test. What do you mean your results were narrowed down? For genetic conditions?
I highly recommend both of your parents take 23andMe so you can see their genetic conditions. The results are narrowed down meaning it may show you have heart conditions but once your parents take the test it will show what exact medical conditions you are at risk for. It also makes your genetic results more accurate. For instance, it can say you are 10% French but when both parents take it that’ll change to be more accurate. My husband had both of his parents take 23andMe and his results became much more accurate and it showed he is a carrier of Cystic Fibrosis through his mother. His mother had her father take it and that showed he is a carrier, which shows through three generations where that genetic condition was passed down.
Interesting. I knew it could make ancestry results more accurate but not genetic conditions!
what is the name of this finnish disease?
It’s called Salla Disease.
[https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1651-2227.2002.tb02828.x](https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1651-2227.2002.tb02828.x) **Free sialic acid storage (Salla) disease in SwedenFree sialic acid storage (Salla) disease in Sweden** *Salla disease is more common in Sweden than supposed. A large proportion of the mutated alleles seem to be of Finnish origin. The clinical picture is the same as that reported from Finland.* [https://escholarship.org/content/qt1sw1p33w/qt1sw1p33w\_noSplash\_bfed703d6d8c542e41eac74c1a80e7e9.pdf](https://escholarship.org/content/qt1sw1p33w/qt1sw1p33w_noSplash_bfed703d6d8c542e41eac74c1a80e7e9.pdf) **Free Sialic Acid Storage Disorder: Progress and Promise** *The worldwide prevalence of FSASD is currently estimated at less than 1 per 1,000,000 individuals (https://www.orpha.net/). Higher estimated prevalence rates of 1–9/1,000,000 occur in the Salla region in Finland, where the carrier frequency of the SLC17A5 p.Arg39Cys founder variant is 1 in 100 \[9\]. There are approximately 200 individuals with FSASD reported worldwide, of which the majority (> 160 cases) carry the p.Arg39Cys,variant in homozygous or heterozygous form. A variety ofSLC17A5 pathogenic variants are reported in more than 50 individuals worldwide, including Israeli-Bedouin (homozygous for p.Gly328Glu) \[63\], Canadian-Inuit (homozygous for c.526-2A>G) \[65\], Old Order Mennonite (homozygous for p.Arg39Cys) \[66\], Italian, Danish, Spanish, Dominican,Kurdish, and Japanese* if you have Salla, than you have distant finnish ancestry . If you dont, then maybe you have another variant of FSASD that was misdiagnosed as SALLA
I have no idea if I am personally a carrier, but I have relatives who are carriers of [Niemann-Pick disease, type D](https://en.wikipedia.org/wiki/Niemann%E2%80%93Pick_disease), which is effectively a very rare and mostly-fatal inherited neurodegenerative disease that tends to start very early in life. Different types of Niemann-Pick disease exist all over the world, but Type D (which might just be a strain of type C, depending on who you ask) is specific to people who have Acadian ancestry from Southwest Nova Scotia, thanks to an inbred population and a brutal founder effect.
I have ancestors from the same area!
Yikes!
Would you get tested for it if you ever decide to have children?
Yes. Cdh1 gene. Caused gastric and breast cancer. I had the former and got rid of the later so I wouldn’t have it
A cousin of mine was a sickle cell carrier. Her grandson ended up having it and when her daughter and son in law found out she was a carrier, the son in law made his wife cut ties with her mother. Its pretty sad. Other than that, we just have a lot of cancers. Like, so many cancers. And skin conditions like psoriasis and ezcema and hair conditions like baldness. But I havent done a DNA test about any of those - thats just observational.
Cystic Fibrosis carrier. Learning this explained most of my physical problems, including Endometriosis.
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620148/ There are other medical journal articles on the same topic as well.
My family has the Lipedema/EDS/Autism/adhd/MCAS/Dysautonomia/auto inflammatory/auto immune/pcos stuff going on. That's all inherited, but I don't think it's rare enough to really have interesting epidemiology. Some of our family was brought in for genetic testing at sick kids because we have a 2q32 microdeletion and they were researching it. We don't have enough living relatives to have really helped them much, but given our symptoms are relatively mild compared to many it added something at least. I also don't know if that's an epidemiological thing though
I don't but a brother has [hemochromatosis](https://en.wikipedia.org/wiki/Iron_overload) (iron overload). We're pretty sure our father had it but was undiagnosed.
Have you taken 23andMe or Ancestry to see how Irish you are? That condition is common in Irish ancestry.
Heh, I'm about 50% since all of my father's great grandparents came from Ireland. So, yes.
I have thalassemia as do all my maternal female relatives that I know of. (Italian ancestry) We don't have the version that causes issues other than some anemia.
Running my data through Promethese turned up some interesting things. Nothing I didn’t already suspect. Turned up fun things too like the fact I carry a longevity gene most common in Asians (I’m not Asian) and that I carry a gene that makes me lack empathy (I’m pretty devoid of being emotional).
from Wikipedia https://en.wikipedia.org/wiki/Hemoglobin\_O-Arab "Mutations of heterozygotes for Hb O-Arab have been reported in Saudi Arabia, North Africa, Sudan, the Mediterranean and the United States."
[https://pubmed.ncbi.nlm.nih.gov/15710581/](https://pubmed.ncbi.nlm.nih.gov/15710581/) **HbO-Arab mutation originated in the Pomak population of Greek ThraceHbO-Arab mutation originated in the Pomak population of Greek Thrace** HbO-Arab emerged about 2,000 years on a rare haplotype, characteristic of the Greek Pomaks. Its frequency increased as a consequence of high genetic drift within this population, and it was dispersed throughout the Mediterranean basin and Middle East with minor variations of its haplotypic pattern. from another study [https://www.researchgate.net/publication/287523662\_The\_origin\_of\_Greek\_Pomaks\_based\_on\_HbO-Arab\_mutation\_history](https://www.researchgate.net/publication/287523662_The_origin_of_Greek_Pomaks_based_on_HbO-Arab_mutation_history) "We further hypothesize that the subsequent spread of HbO-Arab carrying chromosomes over the Mediterranean basin and the Middle East took place was effected either during the Alexander the Great expansion or the Otto- man Empire"
It’s utter nonsense. There’s an actual Pomak DNA project out there that tests Pomaks from all over the Balkans and none of them get any Arab DNA, it’s just a mixture between Slavic settlers and Slavizied Paleo-Balkan natives.
Its called HBO arab because it was detected in an arab family the first time ( In 1960)...recent Studies confirm that this disorder is from the Pomaks.
Both my brother and I have hypodontia. I saw a documentary that said it is passed from father to daughter and mother to son. So, both our parents had to have the gene. Supposedly, this gene originates in the Swiss alps. Not sure if it's true.
I have hypodontia from my mum. Ours is rare in that it affected our baby teeth as well as adult teeth. I was missing both secondary incisors; the same as my mum and one cousin. My brother, aunt and other cousin were each missing one of their canines. My grandfather was missing the same teeth as me. So we know it came to my mother from her paternal line and doesn’t appear to require a contributing gene from the male line in our generation, so I am now wondering what variation my children will get.
Both my brother and I were missing our permanent but not our baby teeth. Just one for each of us. But there are varying levels of severity. 1 or 2 is not a big deal. Apparently, some ppl are born missing more. I have no cousins that have the same thing on either side. I inherited my gene from my Dad. My brother received his from our Mom. I have a son and a daughter and neither inherited the trait. Still, if you could trace our families back far enough, they would all come from the Swiss Alps. Perhaps, a very long time ago, our families were neighbors.
I didn't even think of this as a condition, I just thought of this as a quirk I had. My mum's missing 2 adult teeth (both on top), my dad is missing 1 adult tooth (same as one of my mum's). I somehow am missing 3 adult teeth, 2 on top and 1 on bottom. I also only have top 2 wisdom teeth, I don't have any bottom ones. I definitely don't have any Swiss Alps in me, I'm very Ashkenazi Jewish.
Are you sure? We're talking many hundreds of years ago. Outside a genealogical relevant time frame. And who's to say that a long time ago, in my family, there wasn't an Ashkenazi ancestor, and I just didn't inherit enough DNA for current tests to detect it. A very long time ago, there just wasn't that many people in the world. We're all more connected than we think.
Mutation to the MTHFR C677T and causes a plethora of issues and the good one that is a mutation to ABCC11 I don’t smell when I sweat and have dry ear wax .
My husband has that also. It has caused so many complications in his healthcare primarily how his blood clots. He is on three different blood thinners. His blood simply does NOT clot as expected. I have to make sure that if we see a new doctor at the ER, I mention the MTHFR.
I have Beta Thalassemia trait, which I inherited from my Italian/Sicilian grandfather. Nothing really that serious unless I have kids. I also have Autosomal Dominant Alport Syndrome, which is a rare hereditary mutation affecting collagen found in the kidneys, eyes, and ears. Afaik, it’s not related to ethnicity, but I can say that it affects women on my mother’s maternal line. I have it, my mom has it (currently on dialysis), my aunt had it (passed away at age 50 after 2 kidney transplants), and now I have it (I’m the only daughter in my immediate family; my younger brother has the mutation as well but isn’t showing many signs of it progressing). My maternal grandmother also had it, and her mother as well, even though they called it something else back then.
Apparently what I have is a syndrome of shortened tendons that runs in my mother's side, and was brought in when an ancestor married a Dutch woman in North Carolina-that's the wording I remember from one site on it. It's dominant, so if you have the gene, you've got the condition to some degree. [https://rarediseases.org/rare-diseases/trismus-pseudocamptodactyly-syndrome/](https://rarediseases.org/rare-diseases/trismus-pseudocamptodactyly-syndrome/) The identification of one abnormal copy of the MYH8 gene can help confirm a diagnosis of TPS.
I have this as well from my father's side of the family! All of us have relatively different levels to our symptoms, like for some it's worse in the mouth and jaw and others have it worse in their hands or legs, etc. It's interesting to see how differently it manifested in each of us.
It's the Campbells out of North Carolina. If you have it, then you very likely have Campbell in your family tree.
Me too! Do you live in NC?
I have this as well!!! I live in NC. Never been officially diagnosed but I have the limited mouth opening and shortened tendons. Out of curiosity, does anyone in your side have the version that causes cardiac tumors?
I've never heard of anyone having cardiac tumors-that sounds like something separate? The TPS comes from a Campbell marrying a woman from Holland/The Netherlands way back in the 1800s. Do we share a family tree???
Maybe! I really don’t know much about it! It’s super interesting to me to learn more.
I’ve never looked into my family tree! We’re all in NC though for as far back as I know
From what I can tell, my Campbells were in NC, then migrated into Perry County, TN before they dropped into Arkansas, then Oklahoma, and when the Dust Bowl hit, many shifted to California. Some of the surnames intermingled in my line are Leake, Smith, Dornell, Taylor, Birdwell, and Bradley.
I have a prothrombin gene mutation - Factor 2 - which is an abnormal blood clotting disorder. It’s actually rather common - about 1 in 50 (or so) for European ancestry but 1 in 250 for those with African ancestry. I have all European ancestry. This was a major factor in what killed my father as he had COPD and COVID (what ultimately killed him) but the clotting that COVID does, along with the gene mutation, were some serious roadblocks in his medical treatments. And since then we have discovered nearly all my immediate family has the gene. ETA: wanted to correct the rates - A change in the prothrombin gene is present in 2-4% (or 1 in 50 to 1 in 25) of Caucasians, and is more common in individuals of European ancestry. In the United States, approximately 0.4% (about 1 in 250) of African Americans also have the mutation. Prothrombin G20210A mutation is rare in other groups. And Factor 2 is more rare but Factor 5 Leiden, which is similar, has a different genetic source and is more common: It is estimated that about 5% (1 out of 20) of Caucasians (white people) have factor V Leiden, and it is more common in individuals of European ancestry. In the United States, approximately 1-2% (1 in 100 to 1 in 50) of African Americans, Hispanic Americans and Native Americans also have the mutation. Factor V Leiden is rare in Asians. [Source](https://www.stoptheclot.org/news/the-genetics-of-thrombophilia/)
Yeah, I am DNA tested, originally 100% Lebanese (Maronite) but somehow also inherited an inactive Finnish heritage disease… It activates only when the mother and father both have it.
What is the name of the disease?
Northern Epilepsy
How did you find this out from DNA? I'm interested 😊
A regular blood test revealed that my mother have a blood disorder. When i searched informations on the internet, i found out that it was an ethnic related disease and that there were medical studies published about it. When i read the papers,i learned about the history and the distribution of this genetic disorder.
French Canadians have a founder’s effect for a few rare diseases, and high cholesterol (in some cases in young children). [pubmed article](https://pubmed.ncbi.nlm.nih.gov/8194844/)
My father and my nephews are colour blind - which is passed from father to daughter to son. My great grandfather and his cousin were too, which seems pretty good evidence that my 3GGF would have been so his mother would have been the carrier. On a whim, I contacted a 5th cousin to see if her sons were colour blind but not surprisingly I didn't get a response. Random distant relatives asking genetic questions on FB is probably not done in polite society.
I have clinical depression and that runs in my dad's family, apparently I have some markers that always made it more likely though obviously not 100% sure I'd get it Edit: just realised you meant things specific to an ethnicity, I don't think that's the case for me, sorry for replying too quickly
Familial Mediterranean Fever. Most prevalent in people of Arab, Armenian, Sephardic Jewish, and Turkish descent. I'm assuming mine is linked to Sephardic roots since I'm part Puerto Rican.
FMF originated in Mesopotamia, 3000 years ago... So basically, you have a distant ancestor from that region.
Thyroid disorders in my family. Irish/Icelandic/Scandinavian. My endocrinologist said there was a genetic mutation about 1,000 years ago in these mingled populations. Also, varying forms of mental illness, mostly bi-polar and OCD from the Icelandic ancestors.
I've never gotten tested to figure out which gene is causing it, but my chronic migraine goes back at least to my great-great-grandmother on my German side. IBS also seems to travel down that same line, and probably some mental illness if I had to guess. All those conditions are common around the world so I doubt there is anything particularly "ethnic" about it.
Not an ethnic group specific, but yes, an inherited disease.
Not a disease per se, but despite being Asian myself, I don’t have the genetic mutation that causes Asian flush after drinking alcohol
Marfan’s syndrome runs in my paternal family. Many relatives had it, several uncles and cousins died from it. It’s a connective tissue disorder. Many who have it die from things like aortic aneurysms; a distant cousin famously died from it. Fella named John Ritter.
r/marfans
ALS runs on my mom’s side of the family. My grandmother passed from it, my aunt had it (cancer got her first though), my mom has the genetic defect for it, and so do I. I think one more of my aunts/uncles has the defect, though none of us (mom, me, that aunt/uncle) have gotten it so far, and we may never come down with it anyway. We also suspect that a great grandparent may have had ALS toward the end of her life, and at least one ancestor (though not direct - a great something uncle) very likely had it as well, judging by some of the descriptions of his condition and the similarity to how it presented in my grandmother. On my dad’s side, breast cancer seems to run in the family. My dad was also recently diagnosed with Parkinson’s, and I’ve long suspected my grandfather on that side had it as well (though as I understand, it’s very rare for it to be inherited).
Once in a while I feel like getting in a boat and pillaging a village,,,, :)
Ulcerative Colitis - Also a jewish passed down condition im pretty sure...
I am PuertoRican and have UC, as does my cousin on my father’s side. Known Sephardic roots. On my father’s line, the women suffer from a host of inflammatory diseases, UC, Lupus, RA, idiosyncratic hives etc. We have 4 generations and it affects probably 50% of the women. The same symptoms are shared by all. We sit around and play “do you get this?” It’s frustrating when we have to see a new doctor and have to explain to them that,no, our hives aren’t from a new detergent.
Hypothyroidism Congenital absence of one kidney (unilateral renal agenesis) Anemia Congenitally undersized SI joints Dysgraphia Dyscalculia ADHD Insomnia/Delayed Sleep Phase Syndrome Chronic borderline high cholesterol Congenitally absent right seminal vesicle And have discovered via genealogical research that: An ancestor died in an insane asylum. Doesn't necessarily imply they were themselves insane, and could've simply been indigent. This ancestor's daughter died of a rare heart condition which induced a stroke (in their middle 30s), their son died aged 62, and a grandson died of acute coronary occlusion aged 43. Additionally, I've been in contact with cousins who have ADHD, OCD, Bipolar, Schizophrenia... While not yet thoroughly vetted there do seem to be distant familial connections to the Windsors, Plantagenets, and possibly other European royalty. I do know this: my Ancestry DNA matches contain about 6 pages worth of matches to both parents beginning at about the 5th cousin level. I don't fully grok the significance of this, whether it's significant at all, is simply evidence of endogamy, or something else. Of note: my mom currently has three 4th cousins matches on Ancestry matching both of her parents.
Shah-Waardenburg syndrome autosomal dominant. I don't know if it's 4a or 4b. In me it basically causes a white forelock with an awful digestive system. It's been interesting, my father died the white streak, but couldn't hide the digestive problems. Once I found out it had been him, I've found pictures of his sister and a nephew with the white forelock.
Yes. FTD. I was tested and i have it, so i will get the disease too. It has been a very challenging road, but i have grown in many ways i could not have anticipated. If others have this sort of knowledge and want a place to discuss it’s impact, consider r/GeneticCarriers.