" /> Amyloidosis, finnish type - CISMeF





Preferred Label : Amyloidosis, finnish type;

CISMeF acronym : LCD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amyloidosis V; Amyloidosis, meretoja type; Amyloid cranial neuropathy with lattice corneal dystrophy; Amyloidosis due to mutant gelsolin; AMYLD4; Amyloidosis, hereditary systemic 4, finnish type;

Description : The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including corneal lattice dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported (Meretoja, 1973).;

Inheritance : Autosomal dominant;

Prefixed ID : #105120;

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24/07/2025


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