Cystathioninuria

Table of contents:

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

Description

Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.

Genes related to Cystathioninuria

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Clinical Features

Phenotypes and symptoms related to Cystathioninuria

Diabetes mellitus
Aciduria
Glycosuria
Neuroblastoma
Hyperglycinemia
Cystinuria
Nonketotic hyperglycinemia
Galactosuria
Cystathioninuria
Hyperhistidinemia

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

Cystathioninuria Is also known as cystathione gamma-lyase deficiency syndrome, gamma-cystathionase deficiency, cystathionase deficiency.

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.

Cystathioninuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cystathioninuria via CTH Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CTH Specificity 100 % Genes 100 %
Cystathioninuria. By Centogene AG - the Rare Disease Company (Germany). CTH Specificity 100 % Genes 100 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL (Spain). RMRP, RP2, RPE65, RPGR, RPS6KA3, RS1, SACS, SGCA, SGCB, SGSH, SLC16A2, SLC22A5, SLC25A13, SLC26A2, SLC3A1, SLC5A5, SLC6A8, KDM5C, SMN1, BTD , (...) View the complete list with 278 more genes Panel complete gene list RMRP, RP2, RPE65, RPGR, RPS6KA3, RS1, SACS, SGCA, SGCB, SGSH, SLC16A2, SLC22A5, SLC25A13, SLC26A2, SLC3A1, SLC5A5, SLC6A8, KDM5C, SMN1, BTD, SPG11, SPG7, SUCLA2, SUCLG1, SURF1, SYN1, TAT, TFR2, TH, THRB, TMPRSS3, ACOX1, CD40LG, TNNT1, TPO, TRDN, TSFM, TTPA, TUFM, TULP1, TYR, TYRP1, UGT1A1, USH1C, USH2A, CLRN1, USP9X, FTSJ1, DUOX2, MCOLN1, CDH23, WNT10A, SLC25A20, NLGN4X, NPC2, PCDH15, CAPN3, CASK, CASQ2, LRPPRC, PANK2, GDAP1, STRC, USH1G, WHRN, SLC4A11, SLC45A2, BSND, TMC1, MCEE, HAX1, TRIOBP, SLC39A4, BRWD3, FKRP, ARX, SPART, ADA, LDLRAP1, RAX, CFTR, THOC2, P3H1, MMAB, POMT2, EVC2, RDH12, GPR143, CLCN1, POLR1C, UPF3B, DHDDS, PHF8, TPP1, CLN3, CLN5, ZFYVE26, CLN6, CLN8, CNGA1, CNGB1, CNGB3, EYS, AHI1, CERKL, COL4A4, COL7A1, LMBRD1, CPT1A, ETHE1, CPT2, CRB1, CTH, TMEM216, HOGA1, CTNS, MMADHC, CTSD, ARL13B, CUL4B, ADK, CYP17A1, CYP21A2, CYP27A1, BBS10, HGSNAT, TPRN, DBT, DCX, ACSF3, SLC6A19, TMEM67, MFSD8, DHCR7, DLD, CEP290, IQSEC2, DMD, SH3TC2, DNAH5, GNPTAB, SLC46A1, TMIE, HUWE1, DYSF, AGA, AGL, DUOXA2, AGPS, ABCA4, AGXT, AHCY, ETFA, ETFB, ETFDH, F11, F2, F5, F8, F9, ACSL4, FAH, FANCA, FANCC, AIPL1, AIRE, FKTN, FGD1, FH, FMR1, AFF2, FXN, FTCD, G6PC, G6PD, ALDH4A1, GAA, GALC, GALE, GALK1, GALNS, GALT, ALDOB, GBA, GBE1, GCDH, ABCB11, GDI1, GJB2, GLA, GLB1, GLDC, GNMT, GNRHR, GNS, GRHPR, GRIA3, GUCY2D, AMT, HADHA, HAL, HBA1, HBB, HEXA, HEXB, HJV, HGD, HLCS, HMGCL, IDH3B, IDS, IDUA, AP1S2, IL1RAPL1, IL2RG, ABCD1, IVD, JAK3, KCNJ11, AR, L1CAM, LAMB3, LAMC2, LDLR, LIPA, ARG1, ABCD4, MAN2B1, MCCC1, MCCC2, CHST6, MECP2, MKS1, ARSA, ARSB, MLYCD, MPL, MPP3, MTHFR, MTMR2, ASL, MTRR, MMUT, MVK, ASPA, ASS1, MYO7A, NAGLU, NBN, NDP, NDRG1, NEB, NPC1, NPHP1, NPHS1, ATM, NR2E3, OCRL, OPHN1, OTC, OTOF, PAH, PAK3, PAX8, PC, PCBD1, PCCB, ATP7B, PDE6A, PDHB, SLC26A4, PEX1, PEX10, PEX6, ATRX, PEX7, PGK1, ACADM, SERPINA1, ACADS, PKHD1, PLOD1, PLP1, ACADSB, PMM2, ACADVL, POMT1, POU3F4, ACAT1, PPT1, PQBP1, PROP1, PRPS1, BBS1, BBS2, PTS, BCKDHA, BCKDHB Specificity 1 % Genes 100 %
Cobalamin Homocysteine Methionine Deficiency NGS Panel. By Fulgent Genetics Fulgent Genetics (United States). TCN2, CBS, CD320, MCEE, MMAA, MMAB, LMBRD1, MMACHC, CTH, MMADHC, ADK, AHCY, FOLH1, GNMT, MAT1A, ALDH6A1, MTHFR, MTR, MTRR, MMUT Specificity 5 % Genes 100 %
CTH. By Fulgent Genetics Fulgent Genetics (United States). CTH Specificity 100 % Genes 100 %
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel. By Blueprint Genetics (Finland). BCS1L, SLC25A1, SUCLG1, TCN2, UMPS, AMN, CBS, SUGCT, CD320, MCEE, MMAA, MMAB, L2HGDH, SERAC1, LMBRD1, MMACHC, FLAD1, CTH, MMADHC, CUBN , (...) View the complete list with 33 more genes Panel complete gene list BCS1L, SLC25A1, SUCLG1, TCN2, UMPS, AMN, CBS, SUGCT, CD320, MCEE, MMAA, MMAB, L2HGDH, SERAC1, LMBRD1, MMACHC, FLAD1, CTH, MMADHC, CUBN, ADK, DBT, ACSF3, D2HGDH, DLD, CLPB, AHCY, ETFA, ETFB, ETFDH, GCDH, CBLIF, GNMT, HCFC1, HIBCH, HMGCL, IDH2, IVD, ABCD4, MCCC1, MCCC2, MLYCD, MTHFR, MTR, MTRR, MMUT, PCCA, PCCB, PEPD, ACADSB, ACAT1, BCKDHA, BCKDHB Specificity 2 % 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

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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