IBGC1
MCID: BSL038
MIFTS: 53
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Basal Ganglia Calcification, Idiopathic, 1 (IBGC1)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 1:
Characteristics:Orphanet epidemiological data:58
bilateral striopallidodentate calcinosis
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder adult onset (range 30 to 50 years) asymptomatic younger patients show characteristic basal ganglia calcifications see also a childhood-onset form HPO:31
basal ganglia calcification, idiopathic, 1:
Inheritance autosomal dominant inheritance Onset and clinical course progressive adult onset GeneReviews:25
Penetrance Incomplete and age-related penetrance is reported in pfbc, but the factors that influence clinical manifestations are unknown. the degree of penetrance may depend on whether diagnosis is considered at an anatomic level (presence of calcifications in the brain) or at a clinical level (presence of clinical symptoms)....
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
33
Orphanet: 58
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MedlinePlus Genetics :
43
Primary familial brain calcification is a condition characterized by abnormal deposits of calcium (calcification) in blood vessels within the brain. These calcium deposits are visible only on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement of the body. Other brain regions may also be affected.The main signs and symptoms of primary familial brain calcification are movement disorders and psychiatric or behavioral problems. These difficulties usually begin in mid-adulthood, and worsen over time. Most affected individuals have a group of movement abnormalities called parkinsonism, which include unusually slow movement (bradykinesia), muscle rigidity, and tremors. Other movement problems common in people with primary familial brain calcification include involuntary tensing of various muscles (dystonia), uncontrollable movements of the limbs (choreoathetosis), and an unsteady walking style (gait).Psychiatric and behavioral problems occur in 20 to 30 percent of people with primary familial brain calcification. These problems can include difficulty concentrating, memory loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). Affected individuals may also have difficulty swallowing (dysphagia), impaired speech, headache, episodes of extreme dizziness (vertigo), seizures, or urinary problems.The severity of primary familial brain calcification varies among affected individuals; some people have no symptoms related to the condition, whereas others have significant movement and psychiatric problems.
MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 1, also known as primary familial brain calcification, is related to choreatic disease and multifocal dystonia, and has symptoms including tremor, abnormality of extrapyramidal motor function and dysdiadochokinesis. An important gene associated with Basal Ganglia Calcification, Idiopathic, 1 is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are Gap junction and PDGFR-beta signaling pathway. Affiliated tissues include brain, cortex and eye, and related phenotypes are cerebral calcification and hepatomegaly GARD : 20 Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Migraines and seizures frequently occur. Symptoms typically start in an individual's 30's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time. Mutations in the SLC20A2, PDGFRB, and PDGFB genes have been found to cause PFBC. This condition is inherited in an autosomal dominant manner. OMIM® : 57 Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications 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 typical age at clinical onset is between 30 and 50 years (summary by Wang et al., 2012). Calcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans (Koller et al., 1979; Harrington et al., 1981; Forstl et al., 1992). These incidental calcifications are usually benign and have no clear etiology, especially in patients over 60 years of age (Geschwind et al., 1999). Forstl et al. (1992) found no increased risk for dementia, cerebral infarction, seizures, alcoholism, vertigo, or headache in 166 patients with calcification of the basal ganglia compared to 622 individuals without calcification. (213600) (Updated 05-Mar-2021) NINDS : 53 Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech),spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence. KEGG : 36 Familial idiopathic basal ganglia calcification, also known as Fahr disease, is an inherited neurological disorder characterized by symmetrical calcification of cerebral structures lacking known metabolic causes such as calcium or phosphorus homeostasis disorders. Currently, autosomal dominant and recessive causative genes have been identified. UniProtKB/Swiss-Prot : 73 Basal ganglia calcification, idiopathic, 1: 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. Wikipedia : 74 Primary familial brain calcification (PFBC), also known as familial idiopathic basal ganglia... more...
GeneReviews:
NBK1421
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Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 1:58 31 (show all 36)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:213600 (Updated 05-Mar-2021)UMLS symptoms related to Basal Ganglia Calcification, Idiopathic, 1:tremor, abnormality of extrapyramidal motor function, dysdiadochokinesis, athetosis, bradykinesia, muscle rigidity, cerebellar ataxia |
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MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 1:40
Brain,
Cortex,
Eye,
Liver,
Thalamus,
Bone,
Skin
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Articles related to Basal Ganglia Calcification, Idiopathic, 1:(show top 50) (show all 195)
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ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 1:6 (show top 50) (show all 196)
UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 1:73 (show all 17)
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GEO
for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 1.
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Cellular components related to Basal Ganglia Calcification, Idiopathic, 1 according to GeneCards Suite gene sharing:
Biological processes related to Basal Ganglia Calcification, Idiopathic, 1 according to GeneCards Suite gene sharing:(show all 18)
Molecular functions related to Basal Ganglia Calcification, Idiopathic, 1 according to GeneCards Suite gene sharing:
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