Gaucher disease, type III

Preferred Label : Gaucher disease, type III;

Symbol : GD3;

CISMeF acronym : GD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gd III; Gaucher disease, subacute neuronopathic type; Gaucher disease, chronic neuronopathic type; Gaucher disease, juvenile and adult, cerebral;

Included titles and symbols : Gaucher disease, type iiib; Gaucher disease, type iiia; Gaucher disease, norrbottnian type;

Description : Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II. Patterson et al. (1993) suggested that there are 2 phenotypic subgroups of Gaucher disease type III: type IIIA, which is characterized by myoclonus and dementia, and type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease. See also Gaucher disease type IIIC (231005), which is associated with cardiovascular calcifications.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acid beta-glucocerebrosidase gene (GBA, 606643.0001);

Laboratory abnormalities : Decreased beta-glucocerebrosidase protein and activity;

Prefixed ID : #231000;

Details

Origin ID

231000;

UMLS CUI

C0268251;

Automatic exact mappings (from CISMeF team)
- Gaucher disease type 3 [ICD-11 More detail]
- gaucher disease [MeSH Descriptor]
- gaucher disease, norrbottnian type [MeSH concept]
- gaucher disease, norrbottnian type [MeSH Supplementary Concept]
- gaucher disease, type IIIa [MeSH concept]
- gaucher disease, type IIIa [MeSH Supplementary Concept]
- gaucher disease, type IIIb [MeSH concept]
- gaucher disease, type IIIb [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Gaucher disease type 3 [ORDO Disease]
- Gaucher disease type III [Disease (Nov.)]
- Gaucher's disease type III [DO Concept]
- Gaucher's disease type III [MedDRA Preferred Term]
- Subacute neuronopathic Gaucher's disease (disorder) [SNOMED CT concept]
- gaucher disease, type 3 [MeSH concept]
DO Cross reference
- Gaucher's disease type III [DO Concept]
Genes related to phenotype
- Glucosidase, beta, acid [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Decreased beta-glucocerebrosidase level [HPO term]
- Decreased body weight [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Generalized myoclonic seizure [HPO term]
- Hepatomegaly [HPO term]
- Horizontal supranuclear gaze palsy [HPO term]
- Motor delay [HPO term]
- Myoclonus [HPO term]
- Neurological speech impairment [HPO term]
- Pancytopenia [HPO term]
- Progressive neurologic deterioration [HPO term]
- Short stature [HPO term]
- Spastic paraparesis [HPO term]
- Splenomegaly [HPO term]
- Strabismus [HPO term]
- Thrombocytopenia [HPO term]
- Vascular calcification [HPO term]
ORDO concept(s)
- Gaucher disease [ORDO Disease]
- Gaucher disease type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gaucher disease type 3 [ORDO Disease]
- Gaucher disease type III [Disease (Nov.)]
- Gaucher's disease type III [MedDRA Preferred Term]
- Gaucher's disease type III [DO Concept]
- Subacute neuronopathic Gaucher's disease (disorder) [SNOMED CT concept]
- gaucher disease, type 3 [MeSH concept]
- subacute neuronopathic gaucher's disease [SNOMED Notion]

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