IBGC5
MCID: BSL035
MIFTS: 23

Basal Ganglia Calcification, Idiopathic, 5 (IBGC5)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 5

MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 5:

Name: Basal Ganglia Calcification, Idiopathic, 5 57 74 72
Idiopathic Basal Ganglia Calcification 5 29 6
Ibgc5 57 74
Calcification, Basal Ganglia, Idiopathic, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
some patients may be asymptomatic
mean age at onset 23.9 years (range 10 to 55 years)


HPO:

32
basal ganglia calcification, idiopathic, 5:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

UMLS 72 C3809645

Summaries for Basal Ganglia Calcification, Idiopathic, 5

OMIM : 57 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). (615483)

MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 5, is also known as idiopathic basal ganglia calcification 5, and has symptoms including vertigo, athetosis and dizziness. An important gene associated with Basal Ganglia Calcification, Idiopathic, 5 is PDGFB (Platelet Derived Growth Factor Subunit B). Affiliated tissues include brain, cerebellum and thalamus, and related phenotypes are depressivity and dysarthria

UniProtKB/Swiss-Prot : 74 Basal ganglia calcification, idiopathic, 5: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals 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 neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

Related Diseases for Basal Ganglia Calcification, Idiopathic, 5

Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 5

Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 5:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 depressivity 32 HP:0000716
2 dysarthria 32 HP:0001260
3 chorea 32 HP:0002072
4 dyskinesia 32 HP:0100660
5 anxiety 32 HP:0000739
6 migraine 32 HP:0002076
7 psychosis 32 HP:0000709
8 vertigo 32 HP:0002321
9 dementia 32 HP:0000726
10 parkinsonism 32 HP:0001300
11 athetosis 32 HP:0002305
12 apathy 32 HP:0000741
13 motor tics 32 HP:0100034
14 basal ganglia calcification 32 HP:0002135

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
chorea
dyskinesia
cognitive impairment
vertigo
more
Head And Neck Mouth:
orobuccal dyskinesia

Neurologic Behavioral Psychiatric Manifestations:
anxiety
psychosis
apathy
depression
executive dysfunction

Clinical features from OMIM:

615483

UMLS symptoms related to Basal Ganglia Calcification, Idiopathic, 5:


vertigo, athetosis, dizziness, tic, motor, motor disturbances

Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 5

Search Clinical Trials , NIH Clinical Center for Basal Ganglia Calcification, Idiopathic, 5

Genetic Tests for Basal Ganglia Calcification, Idiopathic, 5

Genetic tests related to Basal Ganglia Calcification, Idiopathic, 5:

# Genetic test Affiliating Genes
1 Idiopathic Basal Ganglia Calcification 5 29 PDGFB

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 5

MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 5:

41
Brain, Cerebellum, Thalamus

Publications for Basal Ganglia Calcification, Idiopathic, 5

Articles related to Basal Ganglia Calcification, Idiopathic, 5:

# Title Authors PMID Year
1
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. 8 71
23913003 2013
2
Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification. 8 71
21409505 2011
3
Primary Familial Brain Calcification 71
20301594 2004

Variations for Basal Ganglia Calcification, Idiopathic, 5

ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 5:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PDGFB NM_002608.4(PDGFB): c.433C> T (p.Gln145Ter) single nucleotide variant Pathogenic rs397515631 22:39627650-39627650 22:39231645-39231645
2 PDGFB NM_002608.4(PDGFB): c.356T> C (p.Leu119Pro) single nucleotide variant Pathogenic rs397515632 22:39627727-39627727 22:39231722-39231722
3 PDGFB NM_002608.4(PDGFB): c.726G> C (p.Ter242Tyr) single nucleotide variant Pathogenic rs398122398 22:39621728-39621728 22:39225723-39225723
4 PDGFB NM_002608.4(PDGFB): c.445C> T (p.Arg149Ter) single nucleotide variant Pathogenic rs397515633 22:39627638-39627638 22:39231633-39231633
5 PDGFB NM_002608.4(PDGFB): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs398122399 22:39639966-39639966 22:39243961-39243961

UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 5:

74
# Symbol AA change Variation ID SNP ID
1 PDGFB p.Leu9Arg VAR_070870
2 PDGFB p.Leu119Pro VAR_070871 rs397515632

Expression for Basal Ganglia Calcification, Idiopathic, 5

Search GEO for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 5.

Pathways for Basal Ganglia Calcification, Idiopathic, 5

GO Terms for Basal Ganglia Calcification, Idiopathic, 5

Sources for Basal Ganglia Calcification, Idiopathic, 5

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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