IBGC7
MCID: BSL046
MIFTS: 19

Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive (IBGC7)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

MalaCards integrated aliases for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive:

Name: Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive 58 76 6
Ibgc7 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
adult onset (range twenties to fifties)


Classifications:



External Ids:

OMIM 58 618317
MedGen 43 CN258198

Summaries for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

OMIM : 58 Autosomal recessive idiopathic basal ganglia calcification-7 is a neurologic disorder characterized by onset of symptoms in adulthood. Patients present with dysarthria, gait abnormalities, various movement abnormalities, and often cognitive decline. Brain imaging shows abnormal accumulation of calcium deposits in deep brain regions, including the basal ganglia, thalamus, dentate nuclei, cerebellum, and sometimes other areas of the brain and spinal cord. Some patients with brain imaging abnormalities may be clinically asymptomatic (summary by Yao et al., 2018). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). (618317)

MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive, is also known as ibgc7. An important gene associated with Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive is MYORG (Myogenesis Regulating Glycosidase (Putative)). Affiliated tissues include brain, cerebellum and thalamus.

UniProtKB/Swiss-Prot : 76 Basal ganglia calcification, idiopathic, 7, autosomal recessive: A form of basal ganglia calcification, a genetically heterogeneous 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.

Related Diseases for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

Symptoms & Phenotypes for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
dysarthria
hyperreflexia
chorea
dysmetria
more
Head And Neck Eyes:
hypometric saccades

Neurologic Peripheral Nervous System:
neuropathic pain (1 patient)

Abdomen Gastrointestinal:
dysphagia

Neurologic Behavioral Psychiatric Manifestations:
psychosis (1 patient)
mood instability (in some patients)

Clinical features from OMIM:

618317

Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

Genetic Tests for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

Anatomical Context for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive:

42
Brain, Cerebellum, Thalamus, Spinal Cord

Publications for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

Articles related to Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive:

# Title Authors Year
1
A novel mutation in MYORG causes primary familial brain calcification with central neuropathic pain. ( 30460687 )
2019
2
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. ( 30649222 )
2019
3
MYORG is associated with recessive primary familial brain calcification. ( 30656188 )
2019
4
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification. ( 29910000 )
2018

Variations for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

ClinVar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYORG NM_020702.5(MYORG): c.225G> A (p.Trp75Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 34372717: 34372717
2 MYORG NM_020702.5(MYORG): c.225G> A (p.Trp75Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 34372719: 34372719
3 MYORG NM_020702.5(MYORG): c.1321C> G (p.Arg441Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 34371623: 34371623
4 MYORG NM_020702.5(MYORG): c.1321C> G (p.Arg441Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 34371621: 34371621
5 MYORG NM_020702.5(MYORG): c.695C> T (p.Ser232Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 34372249: 34372249
6 MYORG NM_020702.5(MYORG): c.695C> T (p.Ser232Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 34372247: 34372247
7 MYORG NM_020702.5(MYORG): c.607C> T (p.Gln203Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 34372335: 34372335
8 MYORG NM_020702.5(MYORG): c.607C> T (p.Gln203Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 34372337: 34372337
9 MYORG NM_020702.5(MYORG): c.782_783delGCinsTT (p.Arg261Leu) indel Pathogenic GRCh38 Chromosome 9, 34372161: 34372162
10 MYORG NM_020702.5(MYORG): c.782_783delGCinsTT (p.Arg261Leu) indel Pathogenic GRCh37 Chromosome 9, 34372159: 34372160
11 MYORG NM_020702.5(MYORG): c.1333C> T (p.Gln445Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 34371611: 34371611
12 MYORG NM_020702.5(MYORG): c.1333C> T (p.Gln445Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 34371609: 34371609
13 MYORG NM_020702.5(MYORG): c.1233del (p.Phe411Leufs) deletion Pathogenic GRCh37 Chromosome 9, 34371709: 34371709
14 MYORG NM_020702.5(MYORG): c.1233del (p.Phe411Leufs) deletion Pathogenic GRCh38 Chromosome 9, 34371711: 34371711
15 MYORG NM_020702.5(MYORG): c.1060_1062del (p.Asp354del) deletion Pathogenic GRCh37 Chromosome 9, 34371880: 34371882
16 MYORG NM_020702.5(MYORG): c.1060_1062del (p.Asp354del) deletion Pathogenic GRCh38 Chromosome 9, 34371882: 34371884
17 MYORG MYORG, ILE655THR single nucleotide variant Pathogenic

Expression for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

Search GEO for disease gene expression data for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive.

Pathways for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

GO Terms for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

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