Preferred Label : Basal ganglia calcification, idiopathic, 5;
Symbol : IBGC5;
CISMeF acronym : IBGC5;
Type : Phenotype, molecular basis known;
Description : Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder
characterized by progressive neurologic symptoms that are associated with brain calcifications
mainly affecting the basal ganglia. Calcifications may also occur in the thalamus,
cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias
or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including
apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges
from late childhood to adulthood; the disorder is progressive (summary by Keller 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, beta polypeptide gene (PDGFB,
190040.0003);
Prefixed ID : #615483;
Origin ID : 615483;
UMLS CUI : C3809645;
DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- Validated automatic mappings to NTBT
