Gaucher disease, type iiic

Preferred Label : Gaucher disease, type iiic;

Symbol : GD3C;

CISMeF acronym : GD3C;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acid beta-glucosidase gene (GBA, 606463.0006);

Laboratory abnormalities : Decreased beta-glucosidase protein and activity;

Prefixed ID : #231005;

Détails

Origin ID

231005;

UMLS CUI

C1856476;

Currated CISMeF NLP mapping
- Gaucher disease - ophthalmoplegia - cardiovascular calcification [ICD-11 More detail]
- Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) [SNOMED CT concept]
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome [ORDO Disease]
- Gaucher's disease type IIIC [DO Concept]
- Gaucher-like disease [MeSH concept]
- gaucher disease, type iiic [MeSH concept]
- gaucher disease, type iiic [MeSH Supplementary Concept]
- gaucher-like disease [MeSH Supplementary Concept]
Genes related to phenotype
- Glucosidase, beta, acid [OMIM gene]
HPO term(s)
- Aortic valve calcification [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calcification of the aorta [HPO term]
- Cardiomegaly [HPO term]
- Corneal opacity [HPO term]
- Hepatomegaly [HPO term]
- Horizontal nystagmus [HPO term]
- Hydrocephalus [HPO term]
- Hypometric horizontal saccades [HPO term]
- Mitral stenosis [HPO term]
- Mitral stenosis due to calcifications [HPO term]
- Mitral valve calcification [HPO term]
- Opacification of the corneal stroma [HPO term]
- Pancytopenia [HPO term]
- Pes cavus [HPO term]
- Seizure [HPO term]
- Slowed horizontal saccades [HPO term]
- Splenomegaly [HPO term]
- Strabismus [HPO term]
- Supranuclear ophthalmoplegia [HPO term]
ORDO concept(s)
- Gaucher disease [ORDO Disease]
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- gaucher disease, type iiic [MeSH Supplementary Concept]
- gaucher disease, type iiic [MeSH concept]

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