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IBGC5
MCID: BSL035
MIFTS: 24
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Basal Ganglia Calcification, Idiopathic, 5 (IBGC5)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 5:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder some patients may be asymptomatic mean age at onset 23.9 years (range 10 to 55 years) HPO:31
basal ganglia calcification, idiopathic, 5:
Inheritance autosomal dominant inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases |
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OMIM :
56
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 dyskinesia and anxiety UniProtKB/Swiss-Prot : 73 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. |
Diseases in the Basal Ganglia Calcification, Idiopathic, 1 family: |
Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 5:31 (showing 14, show less)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615483UMLS symptoms related to Basal Ganglia Calcification, Idiopathic, 5:vertigo, athetosis, dizziness, tic, motor, motor disturbances |
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MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 5:40
Brain,
Cerebellum,
Thalamus
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Articles related to Basal Ganglia Calcification, Idiopathic, 5:(showing 3, show less)
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Genes related to Basal Ganglia Calcification, Idiopathic, 5 (1 elite genes):(showing 1, show less) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 5:6 (showing 5, show less)
UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 5:73 (showing 2, show less)
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Search
GEO
for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 5.
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