Amyloidosis, finnish type

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;

Détails

Origin ID

105120;

UMLS CUI

C1622345;

Automatic exact mappings (from CISMeF team)
- Amyloidosis [PASCAL descriptor]
- Amyloidosis [NCIt concept]
- Meretoja syndrome (disorder) [SNOMED CT concept]
- amyloidosis [MeSH Descriptor]
- amyloidosis [MeSH concept]
- cerebral amyloid angiopathy, Gsn-Related [MeSH concept]
- gelsolin [ORDO Gene]
- meretoja syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- AGel amyloidosis [ICD-11 More detail]
- Familial amyloid neuropathy, Finnish type (disorder) [Inactive SNOMED CT concept]
- Finnish type amyloidosis [DO Concept]
- Hereditary gelsolin amyloidosis (disorder) [SNOMED CT concept]
- Lattice corneal dystrophy [HPO term]
- Lattice corneal dystrophy [MedDRA LLT]
- Lattice corneal dystrophy [PASCAL descriptor]
- Lattice corneal dystrophy (disorder) [SNOMED CT concept]
- Lattice corneal dystrophy Type II (disorder) [SNOMED CT concept]
- familial amyloid polyneuropathy, type IV [MeSH concept]
- lattice corneal dystrophy [SNOMED Notion]
- lattice corneal dystrophy [DO Concept]
- lattice corneal dystrophy type II [Disease (Nov.)]
- lattice corneal dystrophy, type II [MeSH concept]
DO Cross reference
- Finnish type amyloidosis [DO Concept]
Genes related to phenotype
- Gelsolin [OMIM gene]
HPO term(s)
- Abnormal abdomen morphology [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbar palsy [HPO term]
- Cardiac amyloidosis [HPO term]
- Cardiomyopathy [HPO term]
- Cutis laxa [HPO term]
- Generalized amyloid deposition [HPO term]
- Lattice corneal dystrophy [HPO term]
- Nephrotic syndrome [HPO term]
- Peripheral polyneuropathy, esp vibration and touch loss [HPO term]
- Polyneuropathy [HPO term]
- Renal insufficiency [HPO term]
Not associated HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
ORDO concept(s)
- AGel amyloidosis [ORDO Disease]
See also inter- (CISMeF)
- AGel amyloidosis [ORDO Disease]
- lattice corneal dystrophy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AGel amyloidosis [ICD-11 More detail]
- Meretoja syndrome [MeSH concept]
- Meretoja syndrome (disorder) [SNOMED CT concept]
- meretoja syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- lattice corneal dystrophy type II [Disease (Nov.)]

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