AGel amyloidosis

Orpha code: 85448OMIM code: 105120

Definition

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.

Disease data
Classification

Disease

Synonyms
Familial amyloid polyneuropathy type IV
Amyloidoza gelsolinowa
Dziedziczna amyloidoza, typ fiński
Rodzinna amyloidoza, typ fiński
Rodzinna polineuropatia amyloidowa typu 4
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type
ORPHA code
85448
OMIM code
105120
ICD10 code
E85.1
ICD11 code
-

No additional description.

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