BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET

General Information (adopted from Orphanet):

Synonyms, Signs: IBGC, CHILDHOOD-ONSET
STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET
CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET
Number of Symptoms 20
OrphanetNr:
OMIM Id: 114100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0000268) Dolichocephaly 144 / 7739
3
(HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
4
(HPO:0001260) Dysarthria 329 / 7739
5
(HPO:0002445) Tetraplegia 26 / 7739
6
(HPO:0001250) Seizures 1245 / 7739
7
(HPO:0010864) Intellectual disability, severe 120 / 7739
8
(HPO:0002461) Dense calcifications in the cerebellar dentate nucleus 4 / 7739
9
(HPO:0004322) Short stature 1232 / 7739
10
(HPO:0004325) Decreased body weight 492 / 7739
11
(OMIM) Normal serum calcium 9 / 7739
12
(OMIM) No evidence of intrauterine or perinatal infection 1 / 7739
13
(OMIM) Severe spasticity 2 / 7739
14
(OMIM) Neuropathologic examination shows calcification of the small brain vessels 2 / 7739
15
(OMIM) Limb contractures, severe 1 / 7739
16
(OMIM) Calcifications may be seen in the thalamus, hippocampus, subcortical white matter, and cortex 2 / 7739
17
(OMIM) Normal serum phosphorus 2 / 7739
18
(OMIM) Poorly developed body habitus 1 / 7739
19
(OMIM) Developmental delay, severe 13 / 7739
20
(OMIM) CT scan shows dense calcifications in the basal ganglia 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Hallervorden (1950) observed 2 sibs with infantile onset of mental retardation, extrapyramidal signs, and diffuse, symmetric intracerebral calcium deposits in the basal ganglia, dentate nucleus, cortex, and subcortical white matter. The findings were associated with microcephaly and pathologic ...