IBGC7
MCID: BSL046
MIFTS: 26

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

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 57 72 29 6
Ibgc7 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
basal ganglia calcification, idiopathic, 7, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive adult onset


Classifications:



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

OMIM® : 57 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) (Updated 20-May-2021)

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, and related phenotypes are psychosis and hyperreflexia

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 psychosis 31 very rare (1%) HP:0000709
2 hyperreflexia 31 HP:0001347
3 abnormal pyramidal sign 31 HP:0007256
4 dysarthria 31 HP:0001260
5 dysphagia 31 HP:0002015
6 chorea 31 HP:0002072
7 dysmetria 31 HP:0001310
8 mental deterioration 31 HP:0001268
9 dystonia 31 HP:0001332
10 migraine 31 HP:0002076
11 memory impairment 31 HP:0002354
12 abnormal cerebellum morphology 31 HP:0001317
13 parkinsonism 31 HP:0001300
14 bradykinesia 31 HP:0002067
15 hypometric saccades 31 HP:0000571

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
ataxia
dysarthria
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 (Updated 20-May-2021)

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

Genetic tests related to Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive 29 MYORG

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

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

40
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 PMID Year
1
A novel mutation in MYORG causes primary familial brain calcification with central neuropathic pain. 57 6
30460687 2019
2
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. 57 6
30649222 2019
3
MYORG is associated with recessive primary familial brain calcification. 57 6
30656188 2019
4
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification. 57 6
29910000 2018
5
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype. 6
31009047 2019
6
Evaluation of MYORG mutations as a novel cause of primary familial brain calcification. 6
30589467 2019

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

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

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYORG NM_020702.5(MYORG):c.225G>A (p.Trp75Ter) SNV Pathogenic 617689 rs760451348 GRCh37: 9:34372717-34372717
GRCh38: 9:34372719-34372719
2 MYORG I655T SNV Pathogenic 617697 GRCh37:
GRCh38:
3 MYORG NM_020702.5(MYORG):c.1233del (p.Phe411fs) Deletion Pathogenic 617695 rs1563981857 GRCh37: 9:34371709-34371709
GRCh38: 9:34371711-34371711
4 MYORG NM_020702.5(MYORG):c.103A>G (p.Met35Val) SNV Likely pathogenic 692186 rs765483979 GRCh37: 9:34372839-34372839
GRCh38: 9:34372841-34372841
5 MYORG NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter) SNV Likely pathogenic 617694 rs1563981743 GRCh37: 9:34371609-34371609
GRCh38: 9:34371611-34371611
6 MYORG NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup) Duplication Likely pathogenic 692182 rs775762093 GRCh37: 9:34372593-34372594
GRCh38: 9:34372595-34372596
7 MYORG NM_020702.5(MYORG):c.1328G>A (p.Trp443Ter) SNV Likely pathogenic 692168 rs868530644 GRCh37: 9:34371614-34371614
GRCh38: 9:34371616-34371616
8 MYORG NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly) SNV Likely pathogenic 617690 rs749427106 GRCh37: 9:34371621-34371621
GRCh38: 9:34371623-34371623
9 MYORG NM_020702.5(MYORG):c.607C>T (p.Gln203Ter) SNV Likely pathogenic 617692 rs1563982489 GRCh37: 9:34372335-34372335
GRCh38: 9:34372337-34372337
10 MYORG NM_020702.5(MYORG):c.1431C>A (p.Tyr477Ter) SNV Likely pathogenic 692171 rs1588003652 GRCh37: 9:34371511-34371511
GRCh38: 9:34371513-34371513
11 MYORG NM_020702.5(MYORG):c.1118C>A (p.Ala373Asp) SNV Uncertain significance 692174 rs1588004082 GRCh37: 9:34371824-34371824
GRCh38: 9:34371826-34371826
12 MYORG NM_020702.5(MYORG):c.1865T>C (p.Leu622Pro) SNV Uncertain significance 692175 rs1239594469 GRCh37: 9:34371077-34371077
GRCh38: 9:34371079-34371079
13 MYORG NM_020702.5(MYORG):c.338T>G (p.Leu113Arg) SNV Uncertain significance 692176 rs753277260 GRCh37: 9:34372604-34372604
GRCh38: 9:34372606-34372606
14 MYORG NM_020702.5(MYORG):c.1967T>C (p.Ile656Thr) SNV Uncertain significance 692177 rs370944350 GRCh37: 9:34370975-34370975
GRCh38: 9:34370977-34370977
15 MYORG NM_020702.5(MYORG):c.1427C>A (p.Thr476Asn) SNV Uncertain significance 692178 rs769099047 GRCh37: 9:34371515-34371515
GRCh38: 9:34371517-34371517
16 MYORG NM_020702.5(MYORG):c.1300G>C (p.Asp434His) SNV Uncertain significance 692179 rs916933188 GRCh37: 9:34371642-34371642
GRCh38: 9:34371644-34371644
17 MYORG NM_020702.5(MYORG):c.1979T>A (p.Leu660Gln) SNV Uncertain significance 692180 rs1588002920 GRCh37: 9:34370963-34370963
GRCh38: 9:34370965-34370965
18 MYORG NM_020702.5(MYORG):c.747G>C (p.Trp249Cys) SNV Uncertain significance 692181 rs1356560096 GRCh37: 9:34372195-34372195
GRCh38: 9:34372197-34372197
19 MYORG NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu) Indel Uncertain significance 617693 rs1563982307 GRCh37: 9:34372159-34372160
GRCh38: 9:34372161-34372162
20 MYORG NM_020702.5(MYORG):c.695C>T (p.Ser232Leu) SNV Uncertain significance 617691 rs757434146 GRCh37: 9:34372247-34372247
GRCh38: 9:34372249-34372249
21 MYORG NM_020702.5(MYORG):c.428_442del (p.Leu143_Ile147del) Deletion Uncertain significance 692169 rs1588005063 GRCh37: 9:34372500-34372514
GRCh38: 9:34372502-34372516
22 MYORG NM_020702.5(MYORG):c.687G>C (p.Trp229Cys) SNV Uncertain significance 692170 rs1588004637 GRCh37: 9:34372255-34372255
GRCh38: 9:34372257-34372257
23 MYORG NM_020702.5(MYORG):c.1831C>T (p.Arg611Trp) SNV Uncertain significance 692183 rs536187898 GRCh37: 9:34371111-34371111
GRCh38: 9:34371113-34371113
24 MYORG NM_020702.5(MYORG):c.191G>A (p.Gly64Glu) SNV Uncertain significance 692184 rs756514041 GRCh37: 9:34372751-34372751
GRCh38: 9:34372753-34372753
25 MYORG NM_020702.5(MYORG):c.1086_1091CTTCGA[1] (p.363_364FD[1]) Microsatellite Uncertain significance 692185 rs1398218251 GRCh37: 9:34371845-34371850
GRCh38: 9:34371847-34371852
26 MYORG NM_020702.5(MYORG):c.1057_1059GAC[1] (p.Asp354del) Microsatellite Uncertain significance 617696 rs1180204613 GRCh37: 9:34371880-34371882
GRCh38: 9:34371882-34371884

UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 MYORG p.Met35Val VAR_081940 rs765483979
2 MYORG p.Arg441Gly VAR_081956 rs749427106

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

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

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