Autosomal Dominant Charcot-marie-tooth Disease Type 2v

Table of contents:

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

Genes related to Autosomal Dominant Charcot-marie-tooth Disease Type 2v

NAGLU

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Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Charcot-marie-tooth Disease Type 2v

Pain
Peripheral neuropathy
Areflexia
Hyporeflexia
Paresthesia
Peripheral axonal neuropathy
Distal sensory impairment
Sensory neuropathy
Impaired vibratory sensation
Sensory ataxia

And another 1 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.

Alternative names

Autosomal Dominant Charcot-marie-tooth Disease Type 2v Is also known as hereditary adult-onset painful axonal polyneuropathy, autosomal dominant charcot-marie-tooth disease type 2 due to naglu mutation, charcot-marie-tooth disease, axonal, autosomal dominant, type 2v, charcot-marie-tooth neuropathy, type 2v, cmt2v.

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.

Autosomal Dominant Charcot-marie-tooth Disease Type 2v Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories (United States). RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...) View the complete list with 612 more genes Panel complete gene list RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB, SDHC, SEMA4A, SGSH, SHH, SIX6, FOXL2, SLC16A1, SLC22A4, SLC22A5, SLC24A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BRCA1, SLC34A1, SLC35A1, SLC3A1, SLC9A3R1, SLC9A6, SMPD1, SNCB, SOD1, SOD2, SOX2, BTD, SPG7, SPR, SPTLC2, SQSTM1, STAR, STAT1, STAT3, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, TAT, TAZ, TWNK, HNF1A, HNF1B, ZEB1, TCIRG1, TCN2, TEAD1, TGFB1, TGFBI, ACO2, TIMM8A, TIMP3, TK2, TLR3, TLR4, ACOX1, TNFRSF11A, TNFRSF11B, TNFSF11, TP53, TSFM, TUFM, TULP1, TYR, TYROBP, TYRP1, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, USH1C, USH2A, CLRN1, VCP, VHL, BEST1, VSX1, WFS1, WT1, WWOX, XDH, ARL6, LPIN1, RPGRIP1, CA2, CDH23, CA4, SOST, GFM1, CABP4, CACNA1F, MRPS16, ELAC2, SLC25A20, C1QTNF5, HTRA2, SLC25A19, ELOVL4, MRPS22, CDHR1, PINK1, AMN, ABCA12, FYCO1, PCDH15, CASP8, CAT, PRPF31, ANKH, CBS, PUS1, HPS3, KLHL7, ALG9, LRPPRC, HPS4, PRPF6, ABHD12, PANK2, NDUFAF5, RP1L1, APTX, COX4I2, NFU1, USH1G, WHRN, PARK7, TRIM32, LIAS, SLC45A2, KIF1B, MCEE, COQ8A, MFN2, HAX1, HPS5, OPTN, NDUFA13, RIMS1, RRM2B, SP7, DTNBP1, PRPF8, AASS, ADGRV1, SARS2, PDSS1, NT5C3A, INVS, NAGS, MFRP, FKBP10, ALG1, IMPG2, ATP6V0A2, COG7, COG8, RAX, BBS7, ATPAF2, HPS6, NDUFAF1, MMAA, NPHP4, CHAT, MTO1, P3H1, MMAB, KIF21A, ALG12, CHM, RD3, KCNV2, SLC25A22, RDH12, CYCS, TTC8, GLRX5, GPR143, SLC35C1, CACNA2D4, COQ6, CLCN7, NUBPL, NDUFA11, SPATA7, L2HGDH, DHDDS, TPP1, CLN3, TUBA1A, TUBB3, SLC39A13, BCOR, BLOC1S3, AARS2, NDUFAF4, PITPNM3, ABHD5, RARS2, INPP5E, CNGA1, ACAD9, CNGA3, CNGB1, DIABLO, CNGB3, EYS, ADAM9, TSPAN12, OSTM1, TOPORS, CERKL, AGK, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COX15, COX6B1, ABAT, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CYP4V2, CPOX, CPT1A, ETHE1, CPT2, CRB1, GNE, CRTAP, CRX, CRYAB, NDUFA12, CISD2, GLYCTK, YARS2, BOLA3, DMGDH, MMACHC, FLVCR1, MMADHC, COQ2, CCDC39, CTSD, COQ9, CTSK, TMEM126A, CUBN, TRMU, MTPAP, DARS2, CYB5A, CYBA, REEP1, FAM161A, SRD5A3, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, TTC19, CYP24A1, SDHAF2, TMEM127, CYP27A1, TMEM70, SLC25A38, CYP27B1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, C12orf65, AMER1, FOXRED1, DBT, C8orf37, DDOST, ACSF3, MSRB3, XPNPEP3, NDUFAF2, CCDC28B, COX14, D2HGDH, TMEM67, DGUOK, NDUFAF6, DHODH, CYB5R3, LEMD3, IQCB1, DLAT, DLD, CEP290, ADSL, FASTKD2, ANKRD26, CC2D2A, UQCRQ, GNPTAB, DNM1L, ISCU, NDUFAF3, BBS9, PPARGC1B, DPM1, DPM3, RFT1, TUSC3, RILP, DSP, DNAJC19, STRA6, PNPLA2, SNRNP200, SECISBP2, TYMP, AFG3L2, LCA5, AGL, EFEMP1, PRCD, AGPS, ELN, ENO3, SDHAF1, ABCA4, AGXT, PCARE, ETFA, ETFB, ETFDH, EYA1, EYA4, ACSL4, FAH, AIPL1, FBLN5, FBN1, FBP1, AK1, AK2, FECH, AKAP10, FH, ATP8B1, FOXC1, FXN, FSCN2, ALAS2, ALDH3A2, FZD4, G6PC, ALDH4A1, SLC37A4, GAA, ALDH5A1, GAD1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, GARS, ALDOB, GATM, GBE1, GCDH, GCK, GCKR, ABCB11, OPN1MW, GCSH, GFER, CBLIF, GJA3, ALMS1, GK, GLB1, TAP1, GLDC, GLUD1, GM2A, GNAT1, GNAT2, GNS, GOT1, GPD1, GPD2, GPI, ABCB4, AMACR, GPX1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, GUSB, ABCB6, GYS1, GYS2, AMT, ABCB7, HSD17B10, HADHA, HADHB, HAGH, HARS, HBB, HCCS, HESX1, HEXA, HEXB, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HP, HPRT1, HPS1, HSD17B4, HSD3B2, HSPD1, IDH2, IDH3B, AP3B1, IMPDH1, ABCD1, IVD, JAG1, APP, KARS, KCNJ13, KRT12, KRT3, KRT5, LDHA, LDHB, COG1, ARG1, LMX1B, LRAT, LRP5, MAN2B1, MANBA, MAOA, PHOX2A, MC1R, MCCC1, MCCC2, ME2, MECP2, MEF2A, MEN1, MERTK, MGAT2, MKKS, MKS1, TRPM1, MLYCD, ALDH6A1, MOCS1, MOCS2, MPDU1, MPI, MPV17, SEPT9, MTHFR, ASL, MTR, MTRR, MMUT, MUTYH, ASS1, MYO7A, MYOC, NAGLU, NCOA4, NDP, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEFH, NEUROD1, ZFHX3, NHS, NME1, NPHP1, NPHP3, ATIC, NRL, FRMD7, NYX, OAT, OCA2, OCRL, OGDH, OGG1, OPA1, OPA3, ATP5F1E, ACACA, OTC, OTX2, OXCT1, PAH, PRKN, PAX2, PAX6, PC, PCCA, PCCB, ATP7A, ACAD8, ATP7B, PCK2, AIFM1, ALDH7A1, PDE6A, PDE6B, PDE6C, PDE6G, PDHA1, PDHB, SLC26A4, SERPINF1, PFKM, PGAM2, ACADM, AUH, PGM1, PHB, PHKA1, PHKA2, PHKB, PHKG2, PHYH, ACADS, PITX2, PITX3, PLA2G2A, PLOD2, PLOD3, ACADSB, PMM2, PNKD, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPIB, PDP1, PPOX, ACAT1, B4GALT7, PPP2R1B, ACAT2, PRKCG, PRODH, PROM1, PSAP, PSEN1, BBS1, BBS2, CAVIN1, PTS, BBS4, BBS5, PYCR1, ALDH18A1, PYGL, PYGM, QDPR, RAF1, BCKDHA, BCKDHB, RB1, OPN1LW, RDH5, PRPH2, RET, RGR Specificity 1 % Genes 100 %
Sanfilippo B syndrome. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). NAGLU Specificity 100 % Genes 100 %
Lysosomal Storage Disease Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...) View the complete list with 54 more genes Panel complete gene list SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS, CTSC, CTSD, CTSK, HGSNAT, MFSD8, DHCR7, GNPTAB, ATP13A2, AGA, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNS, GPC3, GUSB, HEXA, HEXB, HRAS, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, ARSA, KMT2D, ARSB, ASAH1, NAGA, NAGLU, NEU1, NPC1, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PHYH, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5, RAI1 Specificity 2 % Genes 100 %
Lysosomal Storage Disease Panel. By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina). SGSH, SLC17A5, SMPD1, MCOLN1, NPC2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, GNPTG, CTNS, CTSD, CTSK, HGSNAT, MFSD8, GNPTAB, AGA , (...) View the complete list with 30 more genes Panel complete gene list SGSH, SLC17A5, SMPD1, MCOLN1, NPC2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, GNPTG, CTNS, CTSD, CTSK, HGSNAT, MFSD8, GNPTAB, AGA, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNS, GRN, GUSB, HEXA, HEXB, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, ARSA, ARSB, ASAH1, NAGA, NAGLU, NEU1, NPC1, CTSA, PPT1, PSAP Specificity 2 % Genes 100 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). SGSH, SLC2A1, SPR, NPC2, CBS, APTX, COQ8A, PDSS1, MMAA, MMAB, LMBRD1, PDSS2, MMACHC, MMADHC, COQ2, COQ9, CYP27A1, HGSNAT, DBT, DDC , (...) View the complete list with 39 more genes Panel complete gene list SGSH, SLC2A1, SPR, NPC2, CBS, APTX, COQ8A, PDSS1, MMAA, MMAB, LMBRD1, PDSS2, MMACHC, MMADHC, COQ2, COQ9, CYP27A1, HGSNAT, DBT, DDC, SLC6A19, DLD, ADSL, PNPO, GAMT, GATM, GCDH, GCH1, GNS, HLCS, HPRT1, IDS, IDUA, ABCD1, IVD, ARG1, MAN2B1, ARSA, MLYCD, MOCS1, MOCS2, MTHFR, ASL, MTR, MTRR, MMUT, ASS1, NAGLU, PNP, NPC1, OTC, PCBD1, PCCA, PCCB, ALDH7A1, PTS, QDPR, BCKDHA, BCKDHB Specificity 2 % Genes 100 %
NAGLU. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). NAGLU Specificity 100 % Genes 100 %
Mucopolysaccharidosis type IIIB (Sanfilippo B, sequence analysis of NAGLU gene). By CGC Genetics (Portugal). NAGLU Specificity 100 % Genes 100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes). By CGC Genetics (Portugal). SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...) View the complete list with 88 more genes Panel complete gene list SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST, CLCN7, VIPAS39, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, BLOC1S3, VMA21, PEX26, GNPTG, LMBRD1, MFF, CTNS, CTSD, CTSF, CTSK, FAR1, HGSNAT, MFSD8, DNASE1, GNPTAB, DNM1L, LAMTOR2, ATP13A2, ECM1, AGA, EHHADH, AGPS, AGXT, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GNPAT, AMACR, GRN, GUSB, HEXA, HPS1, HSD17B4, HYAL1, IDH1, IDS, IDUA, IGF2R, AP3B1, LAMP2, LIPA, ABCD3, ABCD4, MAN2B1, MANBA, ARSA, ARSB, ASAH1, TRIM37, NAGA, NAGLU, NEU1, NPC1, ATP6V1B1, ATP6V1B2, ATP6V0A4, ATP6AP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PMVK, PPARG, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5 Specificity 1 % Genes 100 %

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Sources and references

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