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rs28933979
|
|
|
0.060 |
GeneticVariation |
BEFREE |
ATTRV30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by amyloid deposition composed of aggregated misfolded TTR monomers with the V30M mutation.
|
30572722 |
2018 |
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rs28933979
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage.TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms.Phenotypic and genetic variability and non-disease-specific symptoms often delay diagnosis and lead to misdiagnosis.
|
29343286 |
2018 |
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rs28933979
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Hereditary ATTR V30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by deposition of aberrant transthyretin (TTR).
|
28539873 |
2017 |
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rs28933979
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Familial amyloidotic polyneuropathy (FAP) TTR Val30Met is a lethal autosomal dominant sensorimotor and autonomic neuropathy due to a substitution of methionine for valine at position 30 of the transthyretin (TTR) gene.
|
19493541 |
2009 |
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rs28933979
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Familial amyloidosis or familial amyloid polyneuropathy (FAP) TTR V30M is a hereditary disease presented, in most cases, as a sensorimotor and autonomic neuropathy.
|
18925459 |
2008 |
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rs28933979
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) type I is caused by a mutated transthyretin (TTR V30M) and characterized by a sensorimotor and autonomic neuropathy.
|
15496172 |
2004 |
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rs1131691917
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|
0.010 |
GeneticVariation |
BEFREE |
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
|
30955194 |
2019 |
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rs713041
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Glutathione peroxidase 4 functional variant rs713041 modulates the risk for cardiovascular autonomic neuropathy in individuals with type 1 diabetes.
|
30599773 |
2019 |
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rs267607161
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A c.349G>T transversion (p.Ala117Ser) in TTR gene exon 4 was identified in the proband with typical autonomic neuropathy and peripheral motor neuropathy, as well as in his asymptomatic son.
|
28762097 |
2018 |
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rs753000469
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|
|
0.010 |
GeneticVariation |
BEFREE |
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.
|
28766925 |
2017 |
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rs7903146
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also found a strong correlation between the rs7903146 and the presence of cardiovascular autonomic neuropathy (P = 0.02 with a high OR = 8.28).
|
22843023 |
2013 |
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rs121918079
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The highly amyloidogenic human TTR variant in which leucine at position 55 is replaced by proline (L55P TTR) is responsible for aggressive fatal amyloidosis with peripheral and autonomic neuropathy, cardiomyopathy and nephropathy.
|
17701470 |
2007 |