Basal Ganglia Calcification, Idiopathic, 1 (IBGC1)

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OMIM 56 213600 OMIM Phenotypic Series 56 PS213600 KEGG 36 H01574 MeSH 43 D001480 D002114 ICD10 via Orphanet 33 G23.8

UMLS via Orphanet 72 C0393590 Orphanet 58 ORPHA1980 MedGen 41 C0393590 C3281142 C4551624 SNOMED-CT via HPO 68 103606006 128613002 14648003 16046003 165232002 17944005 199612005 21061000119107 22033007 22325002 23133003 246545002 252157006 255314001 26079004 263681008 271611007 271700006 302215000 313307000 32798002 35489007 386807006 399317006 413921009 415116008 44913001 55533009 58593005 64634000 69322001 78667006 8011004 80515008 84757009 86854008 91175000 95735008 more UMLS 71 C0393590

Genetics Home Reference : ²⁵ 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 basal ganglia calcification and 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 Development EGFR signaling via small GTPases and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include brain, cortex and eye, and related phenotypes are hepatomegaly and microcephaly

NIH Rare Diseases : ⁵² 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 : ⁵⁶ 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)

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 (IBGC), also known as Fahr disease, is an inherited neurological disorder characterized by symmetric calcification in the basal ganglia and other brain regions, a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures and chronic headache, and normal serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone. The typical age at clinical onset is between 30 and 50 years, and most individuals affected with IBGC are asymptomatic during childhood and young adulthood. The diagnosis of IBGC generally relies on the visualization of bilateral calcification mainly in the basal ganglia by neuroimaging and the absence of metabolic, infectious, toxic, or traumatic causes. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. The mutations in SLC20A2 encoding type III sodium-dependent phosphate transporter 2 (PiT-2) are a major cause of familial IBGC. Recently the mutations of PDGFRB encoding platelet-derived growth factor (PDGF) receptor-beta, PDGFB encoding the PDGFR receptor-beta main ligand and XRP1 encoding a retroviral receptor have been reported to cause calcification in the brain.

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

Clinical features from OMIM:

213600

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