Gaucher disease, type II

Preferred Label : Gaucher disease, type II;

Symbol : GD2;

CISMeF acronym : GD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gd II; Gaucher disease, acute neuronopathic type;

Description : Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).;

Inheritance : Autosomal recessive;

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

Laboratory abnormalities : Decreased glucocerebrosidase activity; Acid beta-glucosidase deficiency;

Prefixed ID : #230900;

Details

Origin ID

230900;

UMLS CUI

C0268250;

Automatic exact mappings (from CISMeF team)
- Ganglioside GD2 [NCIt concept]
- gaucher disease [MeSH Descriptor]
Currated CISMeF NLP mapping
- Acute cerebral Gaucher disease [MeSH concept]
- Acute neuronopathic Gaucher's disease (disorder) [SNOMED CT concept]
- Gaucher disease type 2 [ICD-11 More detail]
- Gaucher disease type 2 [ORDO Disease]
- Gaucher disease type II [Disease (Nov.)]
- Gaucher's disease type II [DO Concept]
- Gaucher's disease type II [MedDRA Preferred Term]
- acute cerebral gaucher disease [MeSH Supplementary Concept]
- acute neuronopathic gaucher's disease [SNOMED Notion]
- gaucher disease, type 2 [MeSH concept]
DO Cross reference
- Gaucher's disease type II [DO Concept]
Genes related to phenotype
- Glucosidase, beta, acid [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbar signs [HPO term]
- Cerebral atrophy [HPO term]
- Dysphagia [HPO term]
- Esotropia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperreflexia [HPO term]
- Oculomotor apraxia [HPO term]
- Poor weight gain [HPO term]
- Progressive neurologic deterioration [HPO term]
- Protuberant abdomen [HPO term]
- Psychomotor retardation [HPO term]
- Recurrent aspiration pneumonia [HPO term]
- Recurrent aspiration pneumonia [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Splenomegaly [HPO term]
- Strabismus [HPO term]
- Thrombocytopenia [HPO term]
- Trismus [HPO term]
ORDO concept(s)
- Gaucher disease [ORDO Disease]
- Gaucher disease type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acute neuronopathic Gaucher's disease (disorder) [SNOMED CT concept]
- Gaucher disease type 2 [ORDO Disease]
- Gaucher disease type II [Disease (Nov.)]
- Gaucher's disease type II [MedDRA Preferred Term]
- Gaucher's disease type II [DO Concept]
- acute neuronopathic gaucher's disease [SNOMED Notion]
- gaucher disease, type 2 [MeSH concept]

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