Basal Ganglia Calcification, Idiopathic, 1 (IBGC1)

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OMIM 58 213600 MeSH 45 D001480 D002114 MedGen 43 C0393590 C3281142 C4551624

SNOMED-CT via HPO 70 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 74 C0393590

OMIM : ⁵⁸ 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)

MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 1, also known as ibgc1, is related to primary familial brain calcification and basal ganglia calcification, idiopathic, childhood-onset, 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). Affiliated tissues include brain, cortex and eye, and related phenotypes are seizures and cerebral calcification

NINDS : ⁵⁵ 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.

UniProtKB/Swiss-Prot : ⁷⁶ 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 : ⁷⁷ Primary familial brain calcification (PFBC), also known as familial idiopathic basal ganglia... more...

Clinical features from OMIM:

213600

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