Basal ganglia calcification, idiopathic, 6

Preferred Label : Basal ganglia calcification, idiopathic, 6;

Symbol : IBGC6;

CISMeF acronym : IBGC6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the xenotropic and polytropic retrovirus receptor gene (XPR1, 605237.0001);

Prefixed ID : #616413;

Details

Origin ID

616413;

UMLS CUI

C4225335;

Genes related to phenotype
- Xenotropic and polytropic retrovirus receptor [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Choreoathetosis [HPO term]
- Cognitive impairment [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Involuntary movements [HPO term]
- Memory impairment [HPO term]
- Palilalia [HPO term]
- Parkinsonism [HPO term]
- Progressive [HPO term]
- Seizure [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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