Gaucher disease, type I

Preferred Label : Gaucher disease, type I;

Symbol : GD1;

CISMeF acronym : GD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gaucher disease, noncerebral juvenile; Glucocerebrosidase deficiency; Gba deficiency; Acid beta-glucosidase deficiency; Gd I;

Description : Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005). Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (230900), and subacute neuronopathic type III (231000). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005). All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (608013), which is a severe form of type II, and Gaucher disease type IIIC (231005), which also has cardiovascular calcifications. See also 610539 for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP; 176801), which is an activator of beta-glucosidase.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acid beta glucosidase gene (GBA, 606463.0001);

Neoplasia : Increased risk for multiple myeloma; Increased risk for monoclonal gammopathy;

Laboratory abnormalities : Acid beta-glucosidase deficiency; Increased bone serum acid phosphatase;

Prefixed ID : #230800;

Details

Origin ID

230800;

UMLS CUI

C1961835;

Currated CISMeF NLP mapping
- Chronic non-neuropathic Gaucher's disease (disorder) [SNOMED CT concept]
- Gaucher disease type 1 [ICD-11 More detail]
- Gaucher disease type 1 [ORDO Disease]
- Gaucher disease type I [Disease (Nov.)]
- Gaucher's disease type I [DO Concept]
- Gaucher's disease type I [MedDRA Preferred Term]
- gaucher disease, type 1 [MeSH concept]
DO Cross reference
- Gaucher's disease type I [DO Concept]
Genes related to phenotype
- Glucosidase, beta, acid [OMIM gene]
HPO term(s)
- Abnormal pulmonary interstitial morphology [HPO term]
- Abnormality of the eye [HPO term]
- Anemia [HPO term]
- Aortic valve stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Avascular necrosis [HPO term]
- Bone pain [HPO term]
- Dyspnea [HPO term]
- Epistaxis [HPO term]
- Erlenmeyer flask deformity of the femurs [HPO term]
- Hepatomegaly [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypersplenism [HPO term]
- Hypertension [HPO term]
- Macular atrophy [HPO term]
- Mitral regurgitation [HPO term]
- Multiple myeloma [HPO term]
- Pancytopenia [HPO term]
- Pathologic fracture [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary infiltrates [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Vertebral compression fracture [HPO term]
ORDO concept(s)
- Gaucher disease [ORDO Disease]
- Gaucher disease type 1 [ORDO Disease]
See also inter- (CISMeF)
- Glucosylceramide beta-glucosidase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gaucher disease type 1 [ORDO Disease]
- Gaucher's disease type I [MedDRA Preferred Term]
- gaucher disease, type 1 [MeSH concept]
Validated automatic mappings to NTBT
- Gaucher disease [ORDO Disease]
- Gaucher disease [Disease (Nov.)]
- Gaucher disease [ICD-11 More detail]
- Gaucher's disease [DO Concept]
- gaucher disease [MeSH Descriptor]
- gaucher disease [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients