AGel amyloidosis
http://www.orpha.net/ORDO/Orphanet_85448
AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.
Synonyms: Familial amyloidosis, Finnish type, Gelsolin amyloidosis, Familial amyloid polyneuropathy type IV, Hereditary amyloidosis, Finnish type
Term info
database cross reference
- UMLS:C0936273 (E (exact mapping (the terms and the concepts are equivalent)))
- ICD-10:E85.1 (NTBT (narrower term maps to a broader term))
- OMIM:105120 (E (exact mapping (the terms and the concepts are equivalent)))
- ICD-10:E85.1 (Attributed)
definition citation
orphanet
hasDbXref
UMLS:C0936273, OMIM:105120, ICD-10:E85.1
notation
ORPHA:85448
Term relations
Subclass of:
- disease
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- part_of some Syndromic corneal dystrophy
- has_inheritance some autosomal dominant
- part_of some Hereditary amyloidosis
- present_in some Worldwide and has_cases/families_average_value value 475.0
- part_of some Rare hereditary systemic disease with peripheral neuropathy
- has_age_of_onset some adult
- part_of some Amyloidosis
Related from: