Basal ganglia calcification, idiopathic, childhood-onset

Preferred Label : Basal ganglia calcification, idiopathic, childhood-onset;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Striopallidodentate calcinosis, bilateral, childhood-onset; Ibgc, childhood-onset; Cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset;

Description : Bilateral striopallidodentate calcinosis, also known as idiopathic basal ganglia calcification (IBGC), is characterized by the accumulation of calcium deposits in different brain regions and is associated with a neurodegenerative clinical phenotype. The changes seen in IBGC occur in the absence of calcium or parathyroid hormone (PTH; 168450) metabolic disorders, such as hypoparathyroidism (see 146200) or pseudohypoparathyroidism (PHP; see 103580). See also the adult-onset form (213600), which is sometimes erroneously referred to as 'Fahr disease.';

Inheritance : Autosomal dominant; Autosomal recessive;

Laboratory abnormalities : Normal serum calcium; Normal serum phosphorus;

Prefixed ID : %114100;

Details

Origin ID

114100;

UMLS CUI

C1861967;

Currated CISMeF NLP mapping
- idiopathic basal ganglia calcification, childhood onset [MeSH concept]
- idiopathic basal ganglia calcification, childhood onset [MeSH Supplementary Concept]
DO Cross reference
- basal ganglia calcification [DO Concept]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal ganglia calcification [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]
- Decreased body weight [HPO term]
- Dense calcifications in the cerebellar dentate nucleus [HPO term]
- Dolichocephaly [HPO term]
- Dysarthria [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Limb contractures, severe [HPO term]
- Limb joint contracture [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Tetraplegia [HPO term]
Not associated HPO term(s)
- Abnormal circulating calcium concentration [HPO term]
ORDO concept(s)
- Aicardi-Goutières syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- idiopathic basal ganglia calcification, childhood onset [MeSH Supplementary Concept]
- idiopathic basal ganglia calcification, childhood onset [MeSH concept]

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