Congenital Disorder Of Glycosylation, Type Iw; Cdg1w

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 Congenital Disorder Of Glycosylation, Type Iw; Cdg1w

STT3B
STT3A

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Disorder Of Glycosylation, Type Iw; Cdg1w

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Failure to thrive
Cryptorchidism
Feeding difficulties
Intrauterine growth retardation
Optic atrophy

And another 6 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Congenital Disorder Of Glycosylation, Type Iw; Cdg1w Is also known as cdgiw, cdg iw.

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.

Congenital Disorder Of Glycosylation, Type Iw; Cdg1w Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital disorders of glycosylation (NGS panel for 39 genes). By CGC Genetics (Portugal). SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, ALG1, COG4, COG6, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, MOGS, SRD5A3 , (...) View the complete list with 19 more genes Panel complete gene list SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, ALG1, COG4, COG6, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, MOGS, SRD5A3, DDOST, DPAGT1, DPM1, DPM2, DPM3, RFT1, STT3B, TMEM165, ALG13, ALG11, STT3A, COG1, MAN1B1, MGAT2, MPDU1, MPI, PGM1, PMM2, B4GALT1 Specificity 6 % Genes 100 %
Osteopetrosis, autosomal recessive 2 (sequence analysis of TNFSF11 gene). By CGC Genetics (Portugal). SSR4, NGLY1, STT3B, STT3A Specificity 50 % Genes 100 %
Congenital disorder of glycosylation type Ix (sequence analysis of STT3B gene). By CGC Genetics (Portugal). STT3B Specificity 100 % Genes 50 %
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, TMEM199, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, SLC39A8, GMPPA, ALG3, ALG6 , (...) View the complete list with 30 more genes Panel complete gene list SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, TMEM199, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, SLC39A8, GMPPA, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DDOST, CCDC115, MAGT1, DPAGT1, DPM1, DPM2, DPM3, RFT1, TUSC3, STT3B, TMEM165, ALG13, ALG11, STT3A, COG1, COG2, MAN1B1, MGAT2, MPDU1, MPI, ATP6AP1, PGM1, PMM2, B4GALT1 Specificity 4 % Genes 100 %
Mental retardation - different panels. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...) View the complete list with 845 more genes Panel complete gene list RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SKI, SLC12A6, SLC16A2, SLC17A5, SLC1A4, BRAF, SLC25A1, SLC25A15, SLC25A16, SLC2A1, SLC31A1, SLC35A1, SLC35A2, SLC35A3, SLC4A4, SLC6A1, SLC6A3, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SNAP29, SIK1, SOS1, SOS2, SOX10, SOX2, SOX3, SOX5, SPG11, SPTAN1, SSR4, STIM1, PLK4, CDKL5, STXBP1, SUOX, SURF1, BUB1B, SYN1, SYNGAP1, SYP, TAF1, TAF2, TAT, TBCE, TBR1, TCF12, TCF20, TCF4, TGFBR1, TGFBR2, TGIF1, TH, THRB, ACO2, TIMM8A, NKX2-1, TSPAN7, ACOX1, MED12, TPI1, TREX1, TRIO, TRIP12, TSC1, TSC2, CEP41, TUBA8, TUBB2A, TUBG1, UBE2A, UBE3A, USP9X, KDM6A, VLDLR, VRK1, WNT1, WWOX, XPA, ZIC2, RNF113A, KAT6A, SCAPER, ZNF711, ZNF81, ACTB, ARL6, FTSJ1, HDAC8, KIF4A, MCOLN1, NSDHL, RLIM, UBE3B, USP27X, ZBTB20, ERLIN2, FBXL4, CTCF, CA2, CA5A, SLC12A5, CA8, CNTNAP2, CACNA1C, CACNA1G, CACNA2D2, HDAC4, FMN2, CCDC78, NSD1, CAD, RAB18, AUTS2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, SCYL1, ACTG1, ELOVL4, TMEM237, MRPS22, ARHGEF9, DEAF1, CAPN10, COG5, ZEB2, PIGT, PPP1R15B, CASK, SNX14, CASP2, MICU1, CBL, SHOC2, MBTPS2, GPHN, ANKH, CBS, PUS1, JAM3, SETBP1, ALG9, LRPPRC, GEMIN4, ADNP, CCNA2, BSCL2, KMT2B, ARFGEF2, PANK2, NDUFAF5, PLCB1, SAMHD1, APTX, MPLKIP, PCNT, SFXN4, TBC1D20, MGME1, DNAJC5, UPB1, TRIM32, NLRP3, RAB39B, FBXO31, TUBGCP4, BCAP31, ZNF423, UBR1, COQ8A, FIG4, HAX1, STAMBP, ZMYND11, SRCAP, CLP1, RAB3GAP1, EXOSC2, ACVR1, CDON, RAB3GAP2, COLEC11, CENPJ, WAC, BRWD3, GMNN, GJC2, CDH15, KAT6B, NDE1, PORCN, ACY1, CDK5, PDSS1, CDK6, AFF4, PGAP2, EXOSC3, CEP83, FKRP, ARID2, ARID1B, ARX, GPT2, SPATA5, TUBGCP6, PHF6, TMCO1, ELP2, PECR, ALG1, ATP6AP2, ASXL1, PRIMA1, SETD2, DEPDC5, ZDHHC9, ATP6V0A2, SPART, RNASEH2A, IER3IP1, CENPE, SLC39A6, COG4, COG6, COG7, COG8, IFT27, RTTN, PMPCA, CDK5RAP2, ASCC3, NAA10, BBS7, POGZ, KCNT1, MMAA, IFIH1, GBA2, ASPM, THOC2, NALCN, POMGNT1, CHD2, FRAS1, DOCK7, ALG12, CHKB, COQ4, CNKSR1, CNKSR2, POMT2, ISCA2, SLC25A22, TECPR2, KIAA0586, CCDC88C, AARS, SNX27, TTC8, CHD8, SLC35C1, B3GLCT, CLCN4, SPRED1, NUBPL, CHAMP1, SMOC1, UBR7, FRY, NDUFA11, UPF3B, MBD5, APOPT1, L2HGDH, ZC3H14, CYP2U1, CHD7, CLIC2, PHF8, TPP1, CLN3, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, CLN8, BCOR, HACE1, SERAC1, FARS2, TBC1D7, RNF125, GTF2H5, RMND1, ANKRD11, DYM, PDHX, ABHD5, INPP5E, ACAD9, AHI1, SATB2, RNASET2, BRAT1, VPS13B, RBM28, COL18A1, KCTD7, COL4A1, COL4A2, COL4A3BP, ADAR, COX10, COX15, GMPPA, GMPPB, MED13L, PEX26, PDSS2, ALG3, SLC13A5, ALG6, ALG2, ALG8, PNPT1, PIGO, ETHE1, ACBD6, CRADD, DOLK, KIF1BP, CREBBP, DHTKD1, PGAP3, MED23, MED17, NDUFA12, APC2, RNASEH2C, PTRH2, POC1A, WDR62, TCTN3, MMACHC, NECAP1, KANSL1, FAM126A, SIL1, EHMT1, FTO, SMC3, RABL6, MFF, MOGS, CEP104, LARP7, VPS37A, ZC4H2, CTDP1, TMEM216, WDR45B, PRMT9, CTNNB1, ADAT3, MMADHC, COQ2, AHDC1, ZCCHC8, CTSD, CTSF, DDX59, KATNAL2, RAB40AL, ARL13B, TANGO2, FRMD4A, ANO10, CCDC88A, DARS2, CUL4B, PRMT7, SETD5, TTC21B, OFD1, RNASEH2B, ADK, PGAP1, LAS1L, TRAPPC11, TCTN2, CPLANE1, SRD5A3, CEP63, MFSD2A, POMGNT2, WDR73, GON4L, TRMT1, PIGG, NSUN2, KRBOX4, PIGV, TCTN1, TMEM135, CSPP1, FAR1, TM4SF20, TTI2, POMK, NARS2, BBS10, HEPACAM, PTCHD1, HGSNAT, UNC80, WDR81, BBS12, DAG1, DARS, C12orf65, CKAP2L, HIKESHI, TMEM138, DBT, METTL23, PARP1, DCX, DDC, ESCO2, DDOST, ACSF3, DDX3X, WDPCP, BBIP1, CCDC28B, CCDC115, ADRA2B, D2HGDH, TMEM67, TRMT10A, MFSD8, DHCR24, B3GALNT2, DHCR7, DHFR, CYB5R3, DIAPH1, MED25, NIPBL, MAGT1, DKC1, CCDC22, WDR45, EMC1, DLD, WASHC5, FRMPD4, SETD1A, KDM6B, DLG3, CEP290, SZT2, ZBTB40, IQSEC2, KIAA0556, KDM1A, CEP135, ADSL, DDHD2, RPGRIP1L, TBC1D24, SHROOM4, CC2D2A, SOBP, DMD, DIP2B, CEP152, ZSWIM6, DMPK, EPG5, KLHL15, ASXL3, ZNF526, EARS2, RSPRY1, CCBE1, NEXMIF, ROGDI, C12orf57, TBL1XR1, DYNC1H1, DNM1, DNM1L, DNMT3A, DNMT3B, DCPS, DPAGT1, BBS9, DPH1, PACS1, DPM1, DPM2, DPM3, POLR3A, DPP6, DPYD, CRBN, ATP13A2, RFT1, CC2D1A, TUSC3, PYCR2, POLR3B, IFT172, KIF7, PRRT2, DNAJC19, STT3B, STRA6, CLPB, TMEM165, GATAD2B, TUBB2B, TRAPPC9, POC1B, EFTUD2, ALG13, HUWE1, DYRK1A, LINS1, SLC6A17, AGA, EEF1A2, EEF1B2, MEGF8, ALG11, AGPAT2, EIF2AK3, EIF2S3, EMX2, ENTPD1, EP300, AHCY, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EZH2, ACSL4, FANCD2, FASN, AK1, FKTN, FGD1, FGFR1, FGFR2, FGFR3, FH, TMEM231, ISPD, FLNA, FMR1, AFF2, FOXG1, FOXP1, AKT3, MTOR, PET100, FUCA1, ALDH3A2, GABRA1, ALDH5A1, GABRB3, GAD1, GALE, B4GALNT1, GALT, GAMT, GATM, GCH1, GCSH, GDI1, GFAP, GK, GLDC, GLI2, GLI3, GNAO1, GNAS, GNPAT, GNS, GPC3, GABBR2, ADGRG1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, GSS, GTF2E2, GUSB, AMT, HIST3H3, HIST1H4B, HSD17B10, HCCS, HCFC1, HCN1, HERC2, HESX1, ANK3, HLCS, HMGB3, HNRNPK, HOXA1, HPD, HPRT1, HRAS, IDS, IDUA, IGF1, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, IKBKG, IL1RAPL1, ABCC9, IMPA1, INPP4A, ABCD1, STT3A, ITPA, KATNB1, KCNA2, KCNB1, KCNH1, KCNJ11, KCNJ6, KCNK9, KCNQ2, KCNQ3, KIF2A, KIF5C, KIF11, KPTN, KRAS, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, COG1, LIG4, LRP2, LZTFL1, LZTR1, MAB21L2, SMAD4, MAF, MAG, ABCD4, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MASP1, MAT1A, MCCC1, MCCC2, MCPH1, MECP2, MEF2C, MEIS2, MGAT2, MID1, MID2, MKKS, MKS1, KMT2D, MLYCD, MOCS1, MOCS2, MPDU1, MPDZ, MPI, ASAH1, MT-CO1, MT-CO2, MT-CO3, ASL, MT-ND5, MTR, MTRR, MT-TK, MT-TL1, MT-TS1, MT-TV, MMUT, ASNS, MVK, MYCN, ASPA, MYO5A, MYT1L, NAGA, NAGLU, NBN, NDP, NDST1, NDUFA1, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NFIX, NHS, PNP, NPHP1, NR2F1, NRAS, ATP1A2, NRXN1, ATP1A3, NT5C2, NTRK1, OCLN, OCRL, ATP2A2, OPHN1, ORC1, OTX2, ATP6V1B2, PAFAH1B1, PAK3, PAX6, PC, ATP7A, AIFM1, PDE4D, PDE6D, PDHA1, ATR, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX6, ATRX, PEX7, KIF1A, PGK1, AUH, PGM1, PGM3, PHGDH, PIGA, PIGN, PIK3CA, PIK3R1, PIK3R2, PLP1, PMM2, PNKP, POMT1, B4GALT1, PPOX, B4GALT7, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRKCG, PRKRA, PRODH, PRPS1, PRSS12, SLC33A1, PTCH1, PTDSS1, PTEN, PTPN11, BBS1, BBS2, BBS4, BBS5, PURA, NECTIN1, PEX5, PYCR1, ALDH18A1, QARS, RAB27A, RAD21, RAF1, RAI1, RALGDS, BCKDHA, RARB, BCKDHB, RASA2, KDM5A, RBBP8, RELN Specificity 1 % Genes 100 %
Congenital Disorders of Glycosylation (CDG). By MGZ Medical Genetics Center (Germany). SLC35A1, SLC35A2, SSR4, COG5, ALG9, ALG1, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, GMPPA, ALG3, ALG6, ALG8, DOLK, MOGS, SRD5A3 , (...) View the complete list with 18 more genes Panel complete gene list SLC35A1, SLC35A2, SSR4, COG5, ALG9, ALG1, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, GMPPA, ALG3, ALG6, ALG8, DOLK, MOGS, SRD5A3, DDOST, DPM1, DPM3, RFT1, TUSC3, STT3B, TMEM165, ALG13, ALG11, STT3A, COG1, MAN1B1, MGAT2, MPDU1, MPI, PGM1, PMM2, B4GALT1 Specificity 6 % Genes 100 %
Congenital Disorders of Glycosylation Panel. By Blueprint Genetics (Finland). SEC23B, SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, B3GLCT, DHDDS, GMPPA, ALG3, ALG6 , (...) View the complete list with 27 more genes Panel complete gene list SEC23B, SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, B3GLCT, DHDDS, GMPPA, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DDOST, MAGT1, DPAGT1, DPM1, DPM2, DPM3, RFT1, TUSC3, STT3B, TMEM165, ALG13, ALG11, STT3A, COG1, MAN1B1, MGAT2, MPDU1, MPI, PGM1, PMM2, B4GALT1 Specificity 5 % Genes 100 %
Comprehensive Metabolism Panel. By Blueprint Genetics (Finland). BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2 , (...) View the complete list with 411 more genes Panel complete gene list BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2, SLC35A1, SLC35A2, SLC3A1, SLC5A1, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SMPD1, BTD, SPG7, SSR4, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TWNK, HNF1A, HNF1B, TCF4, TCN2, TFR2, TIMM8A, TK2, ACOX1, TPMT, TREX1, MYOT, UCP2, UMOD, UMPS, UROD, UROS, WFS1, XDH, ZMPSTE24, LPIN1, MCOLN1, FBXL4, GFM1, CACNA1S, SLC25A20, NPC2, AMN, ADAMTSL2, COG5, CASR, CAV1, CAV3, GPHN, CBS, HAMP, NBAS, ALG9, LDB3, BSCL2, RBCK1, SAMHD1, APTX, SUGCT, NFU1, UPB1, LIAS, BSND, CD320, MCEE, COQ8A, MFN2, NIPA2, SLC39A4, RRM2B, NGLY1, SARS2, ACY1, PDSS1, NT5C3A, TRPM6, NAGS, FKRP, MOCOS, ALG1, ATP6V0A2, RNASEH2A, ADA, COG4, COG6, COG7, COG8, MMAA, IFIH1, TBC1D4, MMAB, ALG12, COQ4, GLRX5, CLCN1, SLC35C1, B3GLCT, COQ6, CLCNKB, CLDN16, SUMF1, CLDN19, L2HGDH, DHDDS, SLC25A26, TPP1, CLN3, CLN5, CLN6, CLN8, SERAC1, DYM, PDHX, ACAD9, NHLRC1, ANTXR2, AGK, COL11A2, COQ7, ADAR, GMPPA, PEX26, GNPTG, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CPOX, CPT1A, CPT2, DOLK, GNE, PTF1A, RNASEH2C, BOLA3, MMACHC, FLAD1, FAM111A, MOGS, CTH, CTNS, MMADHC, COQ2, CTSC, CTSD, COQ9, SLC30A10, CTSK, TMEM126A, TANGO2, CUBN, ANO10, RNASEH2B, ADK, SRD5A3, TMEM70, HGSNAT, C12orf65, FOXRED1, DBT, DDOST, ACSF3, ANO5, SLC6A19, NDUFAF2, D2HGDH, MFSD8, DGUOK, DHCR7, DHODH, COQ5, MAGT1, DLD, ADSL, LIPT1, GNPTAB, DNM1L, ISCU, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, ATP13A2, RFT1, TUSC3, SLC46A1, STT3B, CLPB, TMEM165, PNPLA2, ALG13, DYSF, EBP, TYMP, ECHS1, AGA, AGL, EGF, ALG11, AGPAT2, AGPS, ENO3, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, FAH, FBP1, FKTN, FECH, FH, FLNA, FLNB, FMO3, FOLR1, AKT2, ALAD, ALAS2, FUCA1, FXYD2, G6PC, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, CBLIF, GLA, GLB1, GLDC, GLUD1, GLUL, GM2A, GNMT, GNPAT, GNS, GPC3, AMACR, AMPD1, GUSB, GYG1, GYS1, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HIBCH, HLCS, HMBS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HYAL1, IDH2, IDS, IDUA, ABCC8, INSR, ABCD1, PDX1, STT3A, IVD, KCNA1, KCNJ10, KCNJ11, APRT, KCNJ2, LAMA2, LAMP2, LCT, LDHA, COG1, LIPA, LIPE, ARG1, LMNA, ABCD3, ABCD4, MAN1B1, MAN2B1, MANBA, MCCC1, MCCC2, MGAT2, ARSA, ARSB, MLYCD, MOCS1, MOCS2, MPDU1, MPI, MPV17, ASAH1, MTHFR, ASL, MTR, MTRR, TRIM37, MMUT, ASPA, MYH3, ASS1, NAGA, NAGLU, NDUFS1, NEU1, PNP, NPC1, ATIC, OAT, OPA1, OPA3, OTC, OXCT1, PAH, PC, PCBD1, PCCA, PCCB, ACAD8, ATP7B, PCK1, ALDH7A1, ACADL, PDHA1, PDHB, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PFKM, PGAM2, PGK1, ACADM, AUH, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHYH, SERPINA1, ACADS, PLIN1, ACADSB, PMM2, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPOX, ACAT1, PPT1, PRKAG2, PRODH, PRPS1, PSAP, CAVIN1, PTS, PEX19, PEX2, PEX5, PYGL, PYGM, QDPR, RAI1, BCKDHA, BCKDHB, REN Specificity 1 % Genes 100 %

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Sources and references

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