Basal Ganglia Calcification, Idiopathic, 6; Ibgc6

Description

Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by Legati et al., 2015).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Basal Ganglia Calcification, Idiopathic, 6; Ibgc6

  • Seizures
  • Cognitive impairment
  • Dysarthria
  • Gait disturbance
  • Behavioral abnormality
  • Dystonia
  • Depressivity
  • Dementia
  • Neurological speech impairment
  • Parkinsonism

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Basal Ganglia Calcification, Idiopathic, 6; Ibgc6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC20A2, XPR1, PDGFB, PDGFRB
Specificity
25 %
Genes
100 %
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC20A2, SLC6A3, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TWNK, TH, GIGYF2, UCHL1, XPR1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, CHCHD10 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Basal ganglia calcification type 6, idiopathic.

By Centogene AG - the Rare Disease Company (Germany).

XPR1
Specificity
100 %
Genes
100 %
Basal ganglia calcification Panel.

By CeGaT GmbH (Germany).

SLC20A2, BRAF, TBCE, TREX1, TYROBP, XPR1, CA2, PANK2, SAMHD1, TREM2, RNASEH2A, IFIH1, COL4A1, ADAR, RNASEH2C, RNASEH2B, CTC1, ERCC6, ERCC8, AIRE , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Single gene testing XPR1.

By CeGaT GmbH (Germany).

XPR1
Specificity
100 %
Genes
100 %
XPR1.

By Fulgent Genetics Fulgent Genetics (United States).

XPR1
Specificity
100 %
Genes
100 %
Primary Familial Brain Calcification Type 6 , Sequencing XPR1 Gene.

By Reference Laboratory Genetics (Spain).

XPR1
Specificity
100 %
Genes
100 %

You can get up to 1 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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