Spinocerebellar Ataxia 43; Sca43

Table of contents:

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

Description

Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Genes related to Spinocerebellar Ataxia 43; Sca43

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Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 43; Sca43

Ataxia
Nystagmus
Pain
Peripheral neuropathy
Dysarthria
Tremor
Cerebellar atrophy
Hyporeflexia
Pes cavus
Gait ataxia

And another 15 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.

Spinocerebellar Ataxia 43; Sca43 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Charcot-Marie-Tooth Hereditary Neuropathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...) View the complete list with 34 more genes Panel complete gene list SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, MORC2, INF2, LRSAM1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, HSPB8, EGR2, GAN, GARS, GJB1, HARS, HINT1, DNAJB2, HSPB1, IGHMBP2, KARS, LMNA, MARS, MME, MPZ, MTMR2, NDRG1, NEFH, NEFL, AIFM1, PDK3, PMP22, PRPS1, RAB7A Specificity 2 % Genes 100 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...) View the complete list with 457 more genes Panel complete gene list BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1, SOX10, BTD, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, CDKL5, STUB1, STXBP1, SUCLG1, SUOX, SURF1, TBCE, TWNK, TCF4, TCN2, TH, ACO2, TINF2, NKX2-1, TRPC3, TSFM, CEP41, TTPA, TTR, UBE3A, UCHL1, UQCRB, VAMP1, VARS, VLDLR, VRK1, WFS1, WWOX, XPA, XRCC4, YME1L1, ZIC1, SAMD9L, ATP8A2, ERLIN2, FBXL4, AAAS, PRX, CA8, CACNA1A, CACNA1G, PRDM8, CACNB4, PCDH19, SCYL1, ELOVL4, TMEM237, NPC2, CAPN1, PUM1, CASK, SNX14, CAV1, TSEN34, CHCHD10, LRPPRC, BSCL2, ABHD12, PANK2, NDUFAF5, APTX, SLC52A3, DNAJC5, TGM6, SLC19A3, PNPLA6, KIF1B, SCARB2, COQ8A, DGAT2, ERLIN1, PRICKLE1, NIPA1, MLC1, SYNE1, SLC39A4, RRM2B, TRNT1, TPK1, GJC2, PDSS1, TDP2, EXOSC3, FKRP, ADA2, NAXE, RNASEH1, SPART, CPT1C, COG4, RTN4IP1, PMPCA, ATPAF2, CAMTA1, NDUFAF1, TDP1, GBA2, NALCN, EBF3, POMGNT1, TTBK2, MECR, COQ4, DDHD1, POMT2, TECPR2, KIAA0586, CCDC88C, POLR1C, CLCN2, COQ6, NUBPL, CHAMP1, PRICKLE2, NDUFA11, SPG21, SUMF1, ZIC4, MBD5, APOPT1, L2HGDH, CYP2U1, TPP1, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, TUBB, CLN8, CLPP, AARS2, HACE1, NDUFAF4, FARS2, FA2H, ELOVL5, RARS2, INPP5E, AHI1, NHLRC1, RNASET2, RNF216, BRAT1, COL18A1, KCTD7, AP5Z1, COX10, COX15, COX6B1, GMPPB, CP, PEX26, PDSS2, SLC13A5, SYT14, ALG6, UBA5, ETHE1, NDUFA12, B9D1, BEAN1, PTRH2, TACO1, WDR62, TCTN3, SIL1, FLVCR1, CSTB, CEP104, CTBP1, OTUD4, CTDP1, TMEM216, MARS2, LRSAM1, TMEM240, SLC25A46, MMADHC, COQ2, CTSD, COQ9, CTSF, RNF170, ARL13B, C19orf12, ANO10, MTPAP, DARS2, CUL4B, CWF19L1, TTC21B, OFD1, TRAPPC11, TCTN2, REEP1, CPLANE1, POMGNT2, WDR73, PIGG, TTC19, CYP27A1, TMEM70, TCTN1, CTC1, CSPP1, PIEZO2, HEPACAM, UROC1, CYP7B1, WDR81, RNF168, CEP120, NAT8L, C12orf65, FOXRED1, TMEM138, COX20, DBT, DCX, IBA57, TSEN54, SLC6A19, NDUFAF2, TMEM107, COX14, VWA3B, TMEM67, TSEN2, MFSD8, NDUFAF6, DKC1, DLAT, DLD, ZNF592, RUBCN, CEP290, KIAA0556, IFT140, TELO2, ADSL, DDHD2, FASTKD2, RPGRIP1L, TBC1D24, CC2D2A, DMXL2, SH3TC2, ROGDI, KIDINS220, ARV1, UQCRQ, DYNC1H1, MTFMT, DNM2, DNMT1, DOCK3, NDUFAF3, PIK3R5, DPM1, POLR3A, ATP13A2, RFT1, SLC52A2, POLR3B, KIF7, PRRT2, SLC46A1, DNAJC19, SEPSECS, TYMP, AFG3L2, EEF2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EOMES, COA5, SDHAF1, EPM2A, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FKTN, FGF12, FGF14, ISPD, FMR1, FOLR1, FOXG1, FXN, FTL, PET100, ALDH5A1, GABRB3, GALC, B4GALNT1, GAMT, GAN, GBE1, GCH1, GFAP, GJA1, GJB1, GLB1, GCLC, ALS2, GOSR2, SETX, GPI, AMACR, ADGRG1, GRID2, GRM1, GRN, GSS, ABCB7, HARS, HCN1, HERC1, HEXA, HEXB, HIBCH, HLCS, HNRNPH2, HSD17B4, HSPD1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNQ2, KIF1C, KIF5A, L1CAM, LAMA1, LARGE1, LIG4, LMNB1, LMNB2, LRP4, MAG, MAPK10, ARL6IP1, MECP2, MKS1, ARSA, MME, MPDU1, MPV17, MPZ, MRE11, ASL, MT-TP, MVK, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NF2, ATCAY, NOL3, PNP, NPC1, NPHP1, ATM, ATP1A2, ATP1A3, NT5C2, NUP62, OPA1, OPA3, OPHN1, ATP2B3, OTC, PAX6, PC, ATP7B, PCNA, CHMP1A, PDE6D, PDHA1, PDHB, PDYN, PEX1, PEX10, PEX16, PEX7, KIF1A, PGK1, AUH, PGM3, PHYH, PLA2G6, PLP1, PMM2, PMP22, PNKD, PNKP, POLG, POMT1, CTSA, PPT1, PRF1, PRKCG, DNAJC3, PRNP, PRPS1, HTRA1, PSAP, SLC33A1, PSEN1, PTS, PEX2, ALDH18A1, BCKDHA, BCKDHB, RARS, RELN Specificity 1 % Genes 100 %
MME. By Fulgent Genetics Fulgent Genetics (United States). MME Specificity 100 % Genes 100 %
Ataxia Panel. By Blueprint Genetics (Finland). SACS, SLC1A3, SLC20A2, SLC2A1, SLC9A6, SPG7, SPTBN2, STUB1, TWNK, ACO2, CEP41, TTPA, VAMP1, VLDLR, WFS1, WWOX, ARL6, ATP8A2, FBXL4, CA8 , (...) View the complete list with 137 more genes Panel complete gene list SACS, SLC1A3, SLC20A2, SLC2A1, SLC9A6, SPG7, SPTBN2, STUB1, TWNK, ACO2, CEP41, TTPA, VAMP1, VLDLR, WFS1, WWOX, ARL6, ATP8A2, FBXL4, CA8, CACNA1A, CACNB4, ELOVL4, TMEM237, CAPN1, CASK, SNX14, LRPPRC, ABHD12, APTX, TGM6, PNPLA6, TRIM32, ZNF423, COQ8A, SYNE1, LARS2, BBS7, CAMTA1, TDP1, GBA2, EBF3, TTBK2, CCDC88C, TTC8, CLCN2, NUBPL, CYP2U1, TPP1, CLN5, ZFYVE26, TUBB4A, CLPP, SERAC1, FA2H, ELOVL5, INPP5E, AHI1, RNF216, CP, SYT14, UBA5, BEAN1, TCTN3, SIL1, FLVCR1, CSTB, TMEM216, MARS2, TMEM240, SLC25A46, ARL13B, ANO10, MTPAP, CWF19L1, OFD1, TCTN2, CPLANE1, TTC19, CYP27A1, TCTN1, BBS10, WDR81, BBS12, TMEM138, COX20, WDPCP, TMEM67, NDUFAF6, RUBCN, CEP290, RPGRIP1L, CC2D2A, MTFMT, DNMT1, COASY, BBS9, SLC52A2, KIF7, PRRT2, DNAJC19, AFG3L2, EEF2, FDXR, FGF14, TMEM231, FMR1, FXN, ALDH5A1, GFAP, GOSR2, SETX, GRID2, GRM1, GSS, ABCB7, HARS2, HIBCH, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, LAMA1, LMNB1, MKKS, MKS1, MME, MRE11, MTTP, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, ATCAY, NOL3, NPHP1, ATM, ATP1A3, OPA1, OPHN1, PAX6, PDYN, PEX7, PHYH, PNKD, PNKP, POLG, PPP2R2B, PRKCG, BBS1, BBS2, BBS4, BBS5 Specificity 1 % Genes 100 %
Comprehensive Muscular Dystrophy / Myopathy Panel. By Blueprint Genetics (Finland). SGCA, SGCB, SGCD, SGCG, TCAP, TNNT1, TPM2, TPM3, MYOT, TTN, ACTA1, CAPN3, DNAJB6, CAV3, MICU1, LDB3, RBCK1, SELENON, LIMS2, TRIM32 , (...) View the complete list with 53 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, TNNT1, TPM2, TPM3, MYOT, TTN, ACTA1, CAPN3, DNAJB6, CAV3, MICU1, LDB3, RBCK1, SELENON, LIMS2, TRIM32, SPEG, KLHL41, SYNE1, TNPO3, FKRP, CFL2, VPS13A, COL12A1, COL4A1, COL4A2, VMA21, COL6A1, COL6A2, COL6A3, GMPPB, POGLUT1, CRYAB, TRAPPC11, POMGNT2, ANO5, DES, TMEM43, B3GALNT2, SMCHD1, DMD, TOR1AIP1, MEGF10, KLHL40, PNPLA2, TMEM126B, DYSF, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, ITGA7, LAMA2, LARGE1, LMNA, LMOD3, MME, SEPT9, MTM1, MYH7, NEB, ATP2A1, PABPN1, POLG, POMT1, BAG3 Specificity 2 % Genes 100 %
Charcot-Marie-Tooth Neuropathy Panel. By Blueprint Genetics (Finland). SACS, SBF1, SCN11A, SCN9A, DST, SLC12A6, SPG11, ATL1, SPTLC1, SPTLC2, SURF1, TFG, MYOT, TTR, VCP, YARS, PRX, PRDM12, ARHGEF10, WNK1 , (...) View the complete list with 78 more genes Panel complete gene list SACS, SBF1, SCN11A, SCN9A, DST, SLC12A6, SPG11, ATL1, SPTLC1, SPTLC2, SURF1, TFG, MYOT, TTR, VCP, YARS, PRX, PRDM12, ARHGEF10, WNK1, CHCHD10, LDB3, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, ZFYVE26, SBF2, COX10, COX6A1, DHTKD1, GNE, INF2, ATL3, DCAF8, CTDP1, LRSAM1, SLC25A46, ATAD3A, REEP1, RETREG1, C12orf65, DCTN1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, TYMP, EGR2, FBLN5, FXN, GAN, GARS, GJB1, SETX, AMACR, HADHB, HARS, HINT1, HK1, HSPB1, IGHMBP2, ELP1, KARS, KIF5A, LMNA, SMAD3, MARS, MCM3AP, MME, MPZ, SEPT9, MTMR2, NDRG1, NEFH, NEFL, NGF, NTRK1, ATP7A, AIFM1, PDK3, KIF1A, PMP22, POLG, BAG3, PRPS1, RAB7A Specificity 2 % Genes 100 %
CHARCOT-MARIE-TOOTH TYPE 2T. By Laboratorio de Genetica Clinica SL (Spain). MME Specificity 100 % Genes 100 %
Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes. By Reference Laboratory Genetics (Spain). GDAP1, KIF1B, MFN2, TRPV4, AARS, LRSAM1, MED25, DYNC1H1, DNM2, HSPB8, GARS, HARS, HSPB1, IGHMBP2, LMNA, MME, MPZ, NAGLU, NEFL, RAB7A Specificity 5 % Genes 100 %

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Sources and references

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OMIM Rare Disease Symptoms Checker

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