Basal ganglia calcification, idiopathic, 4

Preferred Label : Basal ganglia calcification, idiopathic, 4;

Symbol : IBGC4;

CISMeF acronym : IBGC4;

Type : Phenotype, molecular basis known;

Description : Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by Nicolas et al., 2013). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the platelet-derived growth factor receptor, beta polypeptide gene (PDGFRB, 173410.0001);

Prefixed ID : #615007;

Details

Origin ID

615007;

UMLS CUI

C3554321;

DO Cross reference
- basal ganglia calcification [DO Concept]
Genes related to phenotype
- Platelet-derived growth factor receptor, beta [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Migraine [HPO term]
- Nystagmus [HPO term]
- Parkinsonism [HPO term]
ORDO concept(s)
- Bilateral striopallidodentate calcinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Bilateral striopallidodentate calcinosis [ORDO Disease]

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