Basal ganglia calcification, idiopathic, 1

Preferred Label : Basal ganglia calcification, idiopathic, 1;

Symbol : IBGC1;

CISMeF acronym : BSPDC; IBGC1; IBGC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fahr disease, familial; Cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset; Striopallidodentate calcinosis, autosomal dominant, adult-onset; Striopallidodentate calcinosis, bilateral; Ferrocalcinosis, cerebrovascular; Basal ganglia calcification, idiopathic, 3; BSPDC; IBGC3; Primary familial brain calcification; Basal ganglia calcification, idiopathic, 2; PFBC; IBGC2; IBGC;

Description : Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase, and parathyroid hormone are normal. The typical age at clinical onset is between 30 and 50 years (summary by Wang et al., 2012). Calcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans (Koller et al., 1979; Harrington et al., 1981; Forstl et al., 1992). These incidental calcifications are usually benign and have no clear etiology, especially in patients over 60 years of age (Geschwind et al., 1999). Forstl et al. (1992) found no increased risk for dementia, cerebral infarction, seizures, alcoholism, vertigo, or headache in 166 patients with calcification of the basal ganglia compared to 622 individuals without calcification. - Genetic Heterogeneity of Idiopathic Basal Ganglia Calcification;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 20 (phosphate transporter), member 2 gene (SLC20A, 158378.0001);

Laboratory abnormalities : Normal serum calcium; Normal serum phosphorus; Normal Ellsworth-Howard test, normal urinary cAMP response to parathyroid hormone (PTH) administration; Mildly decreased phosphaturic response to PTH administration has been reported in some cases;

Prefixed ID : #213600;

Details

Origin ID

213600;

UMLS CUI

C4551624;

Automatic exact mappings (from CISMeF team)
- Basal ganglia calcification, idiopathic 2 [MeSH concept]
- Primary familial brain calcification [MedDRA Preferred Term]
- basal ganglia calcification, idiopathic 2 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Bilateral striopallidodentate calcinosis [ORDO Disease]
- Fahr syndrome [Radlex concept]
- Fahr syndrome [PASCAL descriptor]
- Fahr's disease [MedDRA LLT]
- Fahr's disease [MeSH concept]
- Fahr's disease [MeSH Supplementary Concept]
- Fahr's syndrome (disorder) [SNOMED CT concept]
- Idiopathic Basal Ganglia Calcification 1 [NCIt concept]
- fahr's disease [MedDRA Preferred Term]
- idiopathic basal ganglia calcification [Disease (Nov.)]
DO Cross reference
- basal ganglia calcification [DO Concept]
Genes related to phenotype
- Solute carrier family 20 (phosphate transporter), member 2 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Adult onset [HPO term]
- Athetosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Bradykinesia [HPO term]
- Calcification of the small brain vessels [HPO term]
- Calcifications may be seen in the thalamus, hippocampus, subcortical white matter, and cortex [HPO term]
- Chorea [HPO term]
- Dense calcifications in the cerebellar dentate nucleus [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dystonia [HPO term]
- Gait disturbance [HPO term]
- Hyperreflexia [HPO term]
- Limb dysmetria [HPO term]
- Mask-like facies [HPO term]
- Memory impairment [HPO term]
- Mental deterioration [HPO term]
- Micrographia [HPO term]
- Parkinsonism [HPO term]
- Postural instability [HPO term]
- Progressive [HPO term]
- Psychosis [HPO term]
- Rigidity [HPO term]
- Tremor [HPO term]
- Urinary incontinence [HPO term]
Not associated HPO term(s)
- Abnormal circulating calcium concentration [HPO term]
ORDO concept(s)
- Bilateral striopallidodentate calcinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bilateral striopallidodentate calcinosis [ORDO Disease]
- Fahr's disease [MeSH concept]
- Fahr's disease [MeSH Supplementary Concept]
- Fahr's syndrome (disorder) [SNOMED CT concept]
- Idiopathic Basal Ganglia Calcification 1 [NCIt concept]
- Primary familial brain calcification [MedDRA Preferred Term]
- basal ganglia calcification [DO Concept]
- fahr's disease [MedDRA Preferred Term]

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