Basal Ganglia Calcification, Idiopathic, 5; Ibgc5

Description

Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013).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, 5; Ibgc5

  • Cognitive impairment
  • Dysarthria
  • Gait disturbance
  • Dystonia
  • Headache
  • Depressivity
  • Dementia
  • Anxiety
  • Vertigo
  • Dyskinesia

And another 8 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.


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Basal Ganglia Calcification, Idiopathic, 5; Ibgc5 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 %
PDGFB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

PDGFB
Specificity
100 %
Genes
100 %
Dermatofibrosarcoma protuberans (sequence analysis of PDGFB gene).

By CGC Genetics (Portugal).

PDGFB
Specificity
100 %
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 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Dermatofibrosarcoma protuberans.

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

PDGFB
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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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