Basal Ganglia Calcification, Idiopathic, 4; Ibgc4

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by Nicolas et al., 2013).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).

Genes related to Basal Ganglia Calcification, Idiopathic, 4; Ibgc4

PDGFRB

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Clinical Features

Top most frequent phenotypes and symptoms related to Basal Ganglia Calcification, Idiopathic, 4; Ibgc4

Nystagmus
Cognitive impairment
Depressivity
Dementia
Hyperactivity
Rigidity
Abnormal pyramidal sign
Attention deficit hyperactivity disorder
Parkinsonism
Migraine

And another 5 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, 4; Ibgc4 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 Panel complete gene list BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH, TIMM8A, NKX2-1, TPI1, TREX1, XK, XPR1, VPS35, FBXO7, ANO3, HTRA2, NPC2, PINK1, MICU1, DNAJC6, CBS, LRPPRC, BSCL2, KMT2B, PANK2, NDUFAF5, SAMHD1, APTX, DNAJC5, SLC19A3, PARK7, BCAP31, MCEE, COQ8A, MLC1, TPK1, ACY1, ARX, RNASEH2A, MMAA, IFIH1, VPS13A, MMAB, MECR, AARS, L2HGDH, TPP1, CLN3, CLN5, CLN6, TUBB4A, CLN8, THAP1, SLC39A14, AARS2, HACE1, SERAC1, FA2H, PDHX, COL4A1, ADAR, COX10, COX15, CP, UBA5, ADCY5, NDUFA12, RNASEH2C, TACO1, CSF1R, MMADHC, CTSD, CTSF, SLC30A10, C19orf12, VAC14, RNASEH2B, KCTD17, DCAF17, TTC19, CYP27A1, HEPACAM, FOXRED1, COX20, DDC, NDUFAF2, MFSD8, NDUFAF6, DNAJC12, WDR45, DLAT, TBC1D24, EARS2, TOR1AIP1, LIPT1, UQCRQ, COASY, ATP13A2, PRRT2, CLPB, TOR1A, AFG3L2, ECHS1, SDHAF1, FOXG1, FTL, FUCA1, GAMT, GCDH, GCH1, GLB1, GM2A, GNAL, GNAO1, GNB1, ALS2, GRN, HEXA, HIVEP2, HPCA, HPRT1, MDH2, MECP2, ARSA, MMUT, NDUFA10, NDUFA2, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NPC1, ATM, ATP1A2, ATP1A3, NUP62, PRKN, ATP7B, PDGFB, PDGFRB, PDHA1, AUH, PLA2G6, PLP1, PNKD, PNKP, POLG, PPT1, PRKRA, PSEN1, PTS, QDPR Specificity 1 % Genes 100 %
PDGFRB. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). PDGFRB Specificity 100 % Genes 100 %
Myeloproliferative disorder with eosinophilia (sequence analysis of PDGFRB gene). By CGC Genetics (Portugal). PDGFRB Specificity 100 % Genes 100 %
RT-PCR t(5;12) (TEL/PDGFRb). By CGC Genetics (Portugal). ETV6, PDGFRB Specificity 50 % Genes 100 %
Basal ganglia calcification, idiopathic 1 (sequence anaysis of PDGFRB gene). By CGC Genetics (Portugal). PDGFRB Specificity 100 % Genes 100 %
Detection by FISH of PDGFRB (5q32) rearrangements. By CGC Genetics (Portugal). PDGFRB Specificity 100 % Genes 100 %
Infantile myofibromatosis 1 (sequence analysis of PDGFRB gene). By CGC Genetics (Portugal). PDGFRB 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 %

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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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