DisGeNET - a database of gene-disease associations

Amyloid Neuropathies, Familial, C0206245

Variant: rs28933979 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

Type I (transthyretin Val30Met) familial amyloid polyneuropathy (FAP ATTR Val30Met) has been reported in relation to two endemic foci in Japan.

14640040

2003

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

A case of familial amyloid polyneuropathy homozygous for the transthyretin Val30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings.

11709003

2001

dbSNP:

rs28933979

TTR

0.100

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

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

Spinal cord stimulation markedly ameliorated refractory neuropathic pain in transthyretin Val30Met familial amyloid polyneuropathy.

21504341

2011

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

The Val30Met transthyretin familial amyloid polyneuropathy (TTR-V30M-FAP) is the most frequent familial amyloidosis, with autosomal dominant transmission.

20234390

2010

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

Tafamidis, a non-NSAID highly specific transthyretin stabilizer, delayed neurologic disease progression as measured by Neuropathy Impairment Score-Lower Limbs (NIS-LL) in an 18-month, double-blind, placebo-controlled randomized trial in 128 patients with early-stage transthyretin V30M familial amyloid polyneuropathy (ATTRV30M-FAP).

28393570

2017

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest.

26286643

2016

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP Val30Met) shows a wide variation in age-at-onset (AO) between generations and genders, as in Portuguese families, where women display a later onset and a larger anticipation (>10 years).

29018163

2018

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

Sural nerve biopsy specimens from 49 patients with familial amyloid polyneuropathy (FAP) with transthyretin Val30Met mutation were assessed.

27794111

2016

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

Familial amyloid polyneuropathy (FAP), Portuguese type, is a late onset, high penetrance, autosomal dominant Mendelian disorder caused by a V30M substitution in the transthyretin (TTR) protein.

15949223

2005

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

This longitudinal study aimed at determining predicting variables for middle and long-term psychological disturbance due pre-symptomatic testing (PST) for two late-onset neurological diseases, Huntington disease (HD) and TTR (transthyretin protein) familial amyloid polyneuropathy (FAP) Val30Met (now classified as Val50Met).

29581083

2018

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients.

30615214

2019

dbSNP:

rs28933979

TTR

0.100

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

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

Value of renal biopsy in the prognosis of liver transplantation in familial amyloid polyneuropathy ATTR Val30Met patients.

16911964

2006

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

Postmortem findings in a familial amyloid polyneuropathy patient with homozygosity of the mutant Val30Met transthyretin gene.

15185500

2004

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met.

28327574

2017

dbSNP:

rs28933979

TTR

0.100

GeneticVariation

BEFREE

Cardiac and peripheral vasomotor autonomic functions in late-onset transthyretin Val30Met familial amyloid polyneuropathy.

28983659

2017

dbSNP: