IBGC4
MCID: BSL032
MIFTS: 23
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Basal Ganglia Calcification, Idiopathic, 4 (IBGC4)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 4:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
most patients are asymptomatic one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) variable age of onset of symptoms HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases |
UniProtKB/Swiss-Prot :
73
Basal ganglia calcification, idiopathic, 4: 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.
MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 4, is also known as ibgc4. An important gene associated with Basal Ganglia Calcification, Idiopathic, 4 is PDGFRB (Platelet Derived Growth Factor Receptor Beta). Affiliated tissues include smooth muscle, and related phenotypes are nystagmus and migraine OMIM® : 57 Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by Nicolas et al., 2013). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). (615007) (Updated 05-Mar-2021) |
Diseases in the Basal Ganglia Calcification, Idiopathic, 1 family: |
Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 4:31 (show all 6)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615007 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 4:40
Smooth Muscle
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Articles related to Basal Ganglia Calcification, Idiopathic, 4:
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ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 4:6 (show top 50) (show all 75)
UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 4:73
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GEO
for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 4.
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