Mckusick-kaufman Syndrome; Mkks

Table of contents:

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

Description

McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

Genes related to Mckusick-kaufman Syndrome; Mkks

MKKS

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Clinical Features

Top most frequent phenotypes and symptoms related to Mckusick-kaufman Syndrome; Mkks

Cryptorchidism
Abnormality of the skeletal system
Respiratory distress
Edema
Syndactyly
Abnormality of cardiovascular system morphology
Obesity
Hypospadias
Rod-cone dystrophy
Polydactyly

And another 33 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

Mckusick-kaufman Syndrome; Mkks Is also known as hydrometrocolpos syndrome, kaufman-mckusick syndrome, hmcs, hydrometrocolpos, postaxial polydactyly, and congenital heart malformation.

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.

Mckusick-kaufman Syndrome; Mkks 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 %
Bardet-Biedl Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SDCCAG8, ARL6, TRIM32, IFT27, BBS7, TTC8, INPP5E, ADIPOR1, BBS10, BBS12, C8orf37, WDPCP, BBIP1, CCDC28B, TMEM67, CEP290, BBS9, KCNJ13, LZTFL1, MKKS , (...) View the complete list with 6 more genes Panel complete gene list SDCCAG8, ARL6, TRIM32, IFT27, BBS7, TTC8, INPP5E, ADIPOR1, BBS10, BBS12, C8orf37, WDPCP, BBIP1, CCDC28B, TMEM67, CEP290, BBS9, KCNJ13, LZTFL1, MKKS, MKS1, NPHP1, BBS1, BBS2, BBS4, BBS5 Specificity 4 % Genes 100 %
Ciliopathies. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...) View the complete list with 73 more genes Panel complete gene list RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32, NME8, ADGRV1, INVS, WDR19, DNAI2, BBS7, CFTR, NPHP4, RD3, EVC2, RDH12, TTC8, DNAAF2, SPATA7, RSPH9, RSPH4A, TOPORS, DNAL1, CRB1, CRX, B9D1, NKX2-5, TMEM216, CCDC39, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, CCDC40, TCTN1, BBS10, BBS12, TMEM138, WDPCP, XPNPEP3, CCDC28B, TMEM67, IQCB1, CEP290, RPGRIP1L, WDR35, CC2D2A, IFT80, DNAH11, GLIS2, DNAH5, DNAI1, IFT43, BBS9, DNAAF3, KIF7, DNAAF1, LCA5, EVC, GATA4, GDF1, GUCY2D, IMPDH1, KCNJ13, LRAT, MKKS, MKS1, MYO7A, NODAL, NPHP1, NPHP3, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5 Specificity 2 % Genes 100 %
Bardet-Biedl Syndrome Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SDCCAG8, ARL6, TRIM32, BBS7, TTC8, IFT74, BBS10, BBS12, WDPCP, CEP290, BBS9, IFT172, MKKS, MKS1, BBS1, BBS2, BBS4, BBS5 Specificity 6 % Genes 100 %
Monogenic Obesity Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...) View the complete list with 18 more genes Panel complete gene list SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9, IFT172, DYRK1B, ALMS1, GNAS, LEP, LEPR, MAGEL2, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, POMC, BBS1, BBS2, BBS4, BBS5 Specificity 3 % Genes 100 %
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...) View the complete list with 52 more genes Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Specificity 2 % Genes 100 %
Hypospadias Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...) View the complete list with 41 more genes Panel complete gene list SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, FAT4, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, EFNB1, EVC, FGF10, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GPC3, HBA1, HCCS, HOXA13, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, NR5A1, PDE4D, PEX1, ATRX, PITX2, PTDSS1, PTPN11, RBBP8 Specificity 2 % Genes 100 %
Renal Cystic Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...) View the complete list with 55 more genes Panel complete gene list SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7, NPHP4, KIF14, KIAA0586, TTC8, INPP5E, AHI1, B9D1, BMPER, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, BBS10, BBS12, ANKS6, TMEM138, WDPCP, XPNPEP3, TMEM107, TMEM67, GLIS3, B9D2, IQCB1, CEP290, KIAA0556, IFT140, RPGRIP1L, CEP164, CC2D2A, GLIS2, BBS9, IFT172, KIF7, TMEM231, JAG1, MKKS, MKS1, MUC1, NOTCH2, NPHP1, NPHP3, PDE6D, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5, REN Specificity 2 % Genes 100 %

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Sources and references

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