Disorder "Familial amyloid polyneuropathy"
Found 2 records
Disorder information
Disorder name:
Familial amyloid polyneuropathy
Disoder ID:
OMIM entry:
Synonyms:
TTR amyloid neuropathy, Transthyretin amyloid neuropathy, Transthyretin amyloid polyneuropathy
Definition:
Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.
Modifier statisitcs
Record:
2
Gene:
1
Variant:
2
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered life span(1)
,Altered progressive amyloidosis(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TTR | TTR:rs121918095 | Expressivity | Altered progressive amyloidosis | Pedigree analysis | Slowly progressive amyloidosismore | more |
| TTR:rs28933981 | Expressivity | Altered life span | Pedigree analysis | A benign variant with regard to amyloidosis-related morbidity or shortened life spanmore | more |
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