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Does anyone with this SNP have an EDS diagnosis?
- 10 years, 4 months ago
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UX6175
Yes, I have EDS; it looks to be common on both sides of the family, though most haven't ever looked into it. Dxed with h-EDS but need eval with a good geneticist for the many vascular symptoms and some sudden early deaths in father's side.
And I have celiac,,and a host of allergies and intolerances, and thyroid issues, all of which the bad membranes of EDS seem to make more,likely.
I also have POTS and related dysautonomic symptoms, which are very often found together with EDS.
Hoping that by participating in research over at 23and Me, by allowing my anonymized data to be used by researchers, I can help find easier ways of diagnosing us.- 9 years, 8 months ago.
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GG6909
I am not sure of this mutation but I do have EDS classical with some type 3 overlap as does my adult daughter.
- 9 years, 8 months ago.
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VX4563
US5391 - I've since been officially diagnosed with POTS and HEDS (by an EDS Genetic Specialist) I'm having a DEXA bone scan tomorrow. I still highly suspect vascular but the geneticist doesn't see any reason to do any genetic testing. I wonder about Type VII as i have CHD, born with BILATERAL Hip Dislocations (but that of course, type VII is "extremely rare") T
PH5243 - I myself wonder about a Marfans crossover as well. They are actually people getting diagnosed with Marfans that do not "look" like Marfans.,,,,people as short as 5'2"- 10 years ago.
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US5391
Vx4563. I have EDS and pots. You sound very much like EDS with possible vascular EDS. Doctors are idiots, it hurts their precious ego too much if you figure out something they couldn't so they get upset and refuse to listen. You might have to pay to get genetic testing done to prove it.
- 10 years ago.
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PH5243
1I am yellow ADAMTS2 and have Ehlers Danlos Syndrome. I also have Dysautonomia, Fibromyalgia, Ankylosing spondylitis, and Degenerative disc disease. Although I've been diagnosed with EDS 3, I'm wondering if I have Marfan crossovers.
When I ran an Ehlers Danlos Syndrom Variance report I had several reds and yellows.- 10 years ago.
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QL7423
2I guess it is no coincidence that I see quite a few people who have reds and yellows here. Being that the reasons we are here are often for unexplained illnesses and conditions. I have made alterations to my diet and changed my diet to try to alleviate my problems and tried all kinds of mineral and vitamin supplementation. Keeping track of what helps and side effects is a big thing. But since I can't work anymore because of the TLE from a car accident, at least I can do something, research genetic specific dietary needs. The strange thing is that I had chosen alterations to fix metabolic problems that match what this genetic information is claiming. This is from before I started researching the genetic aspect of nutrogenomics and epigenetics. I have been experimenting with foods and supplementation for six to seven years while only learning about this gene research about a year ago.
The information here is real, but interpretting it is not so easy. Along with mutations come other gene corrections to make up for the mutations, but the corrective mutation may not be inherited, this is a problem. After all, we get genes from both ... More- 10 years, 4 months ago.
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SL5491
I suspected connective tissue disease for a long time before finally seeing a geneticist who specialized in it and confirming the diagnosis. Maybe you could call the geneticists in your area and ask if they specialize in EDS or know of someone who does.
- 10 years, 4 months ago.
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SL5491
I would say it is very likely you have some form of connective tissue disease. I am planning on having a blood test to rule out the vascular type. I also have the scoliosis, TMJ, osteoporosis, marfanoid habitus, pectus excavatum, etc. but a lot of people have no obvious outward signs and still have EDS. I am the only one in my family with the marfanoid look but I most of my family members have some signs of EDS like plantar fasciitis, costochondritis, MVP, dysautonomia, etc. You should find a geneticist in your area to be evaluated or if you cannot do that go see a rheumatologist because they usually treat connective tissue disease.
- 10 years, 4 months ago.
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VX4563
1Hoping to make some connections!
I'm 31 and i've been having chroinc pain since I was 23. I have always wondered about EDS but I don't have a diagnosis.
I have Fibromyalgia, Myofascial Pain Syndrome, scoliosis, autonomic issues: POTS with Orthostatic Hypotension, Raynauds, born with discloated hips
SKIN: translucent, thin, soft, velvety, stretchy, bruise easily, spider veins,
I have small hands with long skinny fingers, long skinny toes, very slender wrists
I am positive for The Walker Murdoch Sign (very skinny wrist) and just barely meet the criteria for the Steinberg sign (due to flexibility not abnormally long thumb)
I can sit in the "W" position, do the reverse prayer pose, can almost touch my tongue to my nose, can rotate my elbows backwards
I have hyper extension of knees, knee and ankle instability, flexible flat feet (high arch when not bearing weight, mortons toe, plantar fascisitis
Along with the hypermobility and hyperextension.of the joints I have tight muscles.
I'm seeing a lot of cross over for Loey-DIetz, Stickler Syndrome, and Thoratic Aortic Anyurism/Dissection.(in my raw data) so I've thrown in other snps in addition to EDS specific snps.
HOMOZYGOUS (RED)
ACTA2 ... More- 10 years, 4 months ago.
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SL5491
I was red for 3 of the ADAMTS2, yellow for 8 of the COL1A2, red COL27A1, 13 yellow COL5A1 and yellow on a lot of the others too. Mostly yellow but 4 red.
- 10 years, 4 months ago.
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SL5491
I had the EDS diagnosis before I did the genetic testing. I was diagnosed with dysautonomia a long time ago and EDS is a common cause of dysautonomia so I saw a geneticist who specialized in EDS and was diagnosed. Doctors had suspected I had Marfan's syndrome before even though I am not very tall. I will check to see which SNPs were red.
- 10 years, 4 months ago.
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LR3367
SL-5491 - may I ask you a question? - did the genetic testing / results assist docs with making an EDS diagnosis? (in conjunction with physical exam and family history of course),
If not too personal a question - can I ask which ones you were 'red' for?
mine show:
red: ADAMTS2, COL5A1, COL1A1, SP7
yellow: COL1A2, PLOD1, SERPINF1, TNXB, COL27A1
green / normal: COL6A3, LEPRE1, PLOD3, BMP1, COL3A1
Lastly do you know if there are any SNPs, genes / gene temnplates associated with / implicated in autonomic dysfunction?
Sorry to VX - I hope I havent side tracked your post to much - am trying to keep discussion focused on answering your question - whilst still asking one or two of my own :)- 10 years, 4 months ago.
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SL5491
I had 3 red and 1 yellow and I have an EDS diagnosis with dysautonomia.
- 10 years, 4 months ago.
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QL7423
I have yellows on this gene and it says I am Homozygous with the three yellows in different snps? I have had a few symptoms of EDS throughout my life but it is hard to say if this gene is the problem. There are a lot of similar symptoms in other reports I have investigated also with lots of reds. lots of yellows in the TXNB and reds in the Serpinf1,SP7,and COL5A1 genes in this report.
I have lots of reds and yellows all over the place. It really surprises me to see a whole report without any minor alleles. I also seem to have plenty that are NG. I don't know what is in those areas. Hopefully they are green but I would guess if they follow suit, they will be half red and yellow.- 10 years, 4 months ago.
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LR3367
Hi VX
I am due to see a doctor about EDS diagnosis and some autonomic issue - 95 percent sure it will be confirmed.
I am also homozygous for COL5A1 and hetro for a few other SNPs though - not sure if that complicates my reply / answer for you.- 10 years, 4 months ago.
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