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;
Origin ID : 105120;
UMLS CUI : C1622345;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
Not associated HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT