Disease #01157 (CHTE (Hypothyroidism, central, testicular enlargement (CHTE)), OMIM:300888)

Official abbreviation CHTE
Name Hypothyroidism, central, testicular enlargement (CHTE)
OMIM ID 300888
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 34
Phenotype entries for this disease 34
Associated with 1 gene IGSF1
Associated tissues -
Disease features -
Remarks -


Individuals

34 entries on 1 page. Showing entries 1 - 34.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) - A1BG, AARSD1, ABCB1, ABCB7, ABCC4, ABCD1, ABO, ABR, ACBD6, ACE2, ACLY, ACOT9, ACRC, ACSL3, ACSL4, ACTB, ACTC1, ACTG1, ACTG2, ACTL8, ACTN1, ADAMTS2, ADAMTSL1, ADAMTSL3, ADARB2, ADCK2, ADCY3, ADCY4, ADCY5, ADIPOR2, ADRA1D, ADRBK1, AFF2, AGPHD1, AIFM1, AKAP14, AKT3, ALAS2, ALG13, ALOX12P2, AMELX, AMOT, ANK2, ANKH, ANP32A, AP1S2, APCDD1L, APLN, APOO, APOOL, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, ARID2, ARL13B, ARMC4, ARMCX2, ARMCX5, ARMCX5-GPRASP2, ARNTL, ARR3, ARSD, ARSE, ARSF, ARSH, ARVCF, ARX, ASB11, ASB9, ASB9P1, ASTN2, ATG14, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP2B4, ATP6AP1, ATP6AP2, ATP7A, ATP9A, ATP9B, ATPBD4, ATR, ATRX, AVPR2, AWAT1, AWAT2, AXDND1, B9D1, BAI1, BAIAP3, BANP, BCAP31, BCAS3, BCAS4, BCAT1, BCOR, BCORL1, BCORP1, BDP1, BEND2, BEND6, BEX2, BEX4, BEX5, BGN, BICC1, BLCAP, BLVRA, BMP15, BMP7, BMX, BRE, BRSK2, BRWD3, BTBD7, BTK, C11orf31, C14orf159, C1orf146, C1orf21, C2CD2, C2orf54, C2orf61, C4orf27, C4orf45, C4orf46, C5orf42, C6orf106, C7orf50, CA5B, CA5BP1, CACNA1B, CACNA1C, CACNA1D, CACNA1F, CACNA1I, CACNA1S, CACNA2D3, CADPS2, CALD1, CAPN13, CAPN5, CAPN6, CAPN8, CASK, CBFA2T3, CCBL2, CCDC102B, CCDC112, CCDC12, CCDC120, CCDC158, CCDC18, CCDC22, CCNB3, CCND1, CD209, CD81, CD99L2, CDC42EP1, CDH23, CDK16, CDK18, CDKAL1, CDKL5, CDYL2, CELF4, CENPI, CERK, CERS1, CETN2, CFP, CHM, CHRDL1, CHST11, CHST7, CHST8, CITED1, CLCN4, CLCN5, CLDN14, CLIC4, CLMP, CLSTN2, CMIP, CMTM8, CNGA2, CNKSR2, CNKSR3, CNOT6, CNTN5, COL20A1, COL4A1, COL4A3BP, COL4A5, COL4A6, COL5A2, CPNE3, CPXCR1, CROCCP2, CRTAC1, CSF1R, CSGALNACT1, CSMD1, CSRP1, CSTF2, CSTF2T, CT45A5, CT45A6, CTAG2, CTIF, CTNNA1, CTNNA3, CTPS2, CTU1, CUL4B, CXorf1, CXorf24, CXorf26, CXorf36, CXorf38, CXorf40A, CXorf48, CXorf56, CXorf58, CXorf59, CXorf61, CXorf65, CXorf67, CXXC1, CXXC1P1, CYBB, CYP2C18, CYP4F11, CYP4F3, CYSLTR1, DAB1, DACH2, DBF4B, DCAF12, DCAF8L1, DCC, DCX, DDX26B, DDX3Y, DDX43, DDX59, DEPTOR, DGKD, DGKH, DGKK, DIAPH2, DIP2C, DKC1, DLG2, DLG3, DLG3-AS1, DLGAP1, DLGAP4, DMD, DNAH2, DNAH9, DNAJC10, DNASE1L1, DNHD1, DOCK11, DOCK2, DOCK3, DPPA3, DRP2, DUOX2, DUSP18, DUSP6, DUSP9, DYNLT3, EBP, ECHDC3, ECT2L, EDA, EDA2R, EEA1, EFHC2, EFNB2, EGFL6, EGFL7, EIF1AY, EIF2C2, EIF2S3, EIF3K, ELF4, ELF5, ENOSF1, ENOX2, EPHB1, ERBB4, ERCC8, ERI3, ERICH1, ERLIN2, ERO1LB, ESX1, EVI5, EZR, F2RL3, F8, FAAH2, FAM102A, FAM104B, FAM120C, FAM122C, FAM123B, FAM127B, FAM127C, FAM133A, FAM155B, FAM189A1, FAM47B, FAM47C, FAM57B, FAM58A, FAM70A, FAM82A1, FAM9B, FANCB, FANCC, FAR1, FARP1, FARS2, FAT3, FATE1, FER, FGD2, FGF13, FGF14, FGF2, FHL1, FIG4, FIGF, FLNA, FLNB, FMN1, FMR1, FMR1-AS1, FMR1NB, FOXO3, FOXO4, FOXO6, FOXP3, FOXR2, FRMD7, FRMPD4, FTCD, FTH1P18, FTSJ1, FTX, FUBP3, FUNDC1, FUNDC2P2, GAB3, GABRA3, GABRE, GABRQ, GAGE2D, GALNT10, GALNTL6, GAS2L3, GATA1, GDF1, GDI1, GDI2, GDPD2, GDPD5, GEMIN8P4, GFPT1, GJB2, GK, GLB1, GLDN, GLIS1, GLOD5, GLRA1, GLRA2, GLRA3, GLUD1, GLUD2, GNAQ, GNL3L, GPC3, GPC4, GPC6, GPKOW, GPM6B, GPR101, GPR112, GPR133, GPR143, GPR173, GPR174, GPR34, GPR50, GPR64, GPRASP1, GPRASP2, GRB10, GRB2, GRIA1, GRIA3, GRIA4, GRIK3, GRIK4, GRIN2A, GRIPAP1, GRK5, GRPR, GSPT1, GSTA1, GTF3A, GUCY2D, GUCY2F, GXYLT2, GYG2, H2BFM, H2BFWT, H2BFXP, HAUS7, HCFC1, HDAC6, HDAC8, HDX, HEPH, HHIPL1, HIF3A, HIVEP3, HM13, HMGB3, HMGN1, HMGN5, HNRNPA1, HNRNPA1P10, HNRNPD, HNRNPH1, HNRNPH3, HPRT1, HS6ST2, HTATSF1, HTR2C, HTRA3, IDS, IFI16, IGLON5, IGSF1, IKBKAP, IL13RA1, IL1RAPL1, IL1RAPL2, IL28RA, IL2RA, IL2RG, ILVBL, IMPDH1, INE1, INE2, INTS9, IPMK, IQCH, IQGAP2, IQSEC1, IQSEC2, IQSEC3, IRAK1, ISPD, ITGA11, ITGAM, ITGB1BP2, ITGB2, ITGB4, ITSN2, JAKMIP1, JHDM1D, JPX, KAL1, KAZN, KCND1, KCNE1L, KCNG3, KCNN3, KCNQ3, KCNQ5, KCNU1, KDM4C, KDM5C, KDM5D, KDM6A, KIAA0146, KIAA0513, KIAA1210, KIAA1524, KIAA1751, KIAA1841, KIAA2022, KIF21B, KIF4A, KIF4B, KIF6, KIRREL, KIRREL3, KLF8, KLHL13, KLHL15, KLHL20, KLHL29, KLHL30, KLHL4, KLHL5, KPNA1, KRT16, KRT83, L1CAM, LACE1, LAMC3, LAMP2, LAPTM4B, LARGE, LAS1L, LDOC1, LGR6, LHFPL1, LHPP, LIMA1, LIN52, LINC00086, LINC00087, LINC00242, LINC00251, LINC00269, LINC00442, LINC00469, LINC00574, LONRF3, LOXHD1, LOXL2, LPAR4, LRBA, LRCH2, LRFN2, LRRC20, LRRC28, LUZP4, MACROD1, MAD1L1, MAEA, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGI2, MAGIX, MAGT1, MAML3, MAMLD1, MAN1C1, MAN2A1, MAOB, MAP2K5, MAP2K6, MAP3K15, MAPKAP1, MAST2, MAU2, MBTPS2, MCF2, MCPH1, MDGA1, MDGA2, ME3, MECP2, MED12, MED14, MEGF6, MFI2, MGAT5B, MICAL2, MID1, MID1IP1, MIPEP, MIR548AC, MLF1IP, MLPH, MMGT1, MORF4L2, MPP1, MS4A15, MSH6, MSI2, MSL2, MSL3, MSL3P1, MSN, MTMR1, MTMR8, MTOR, MTUS2, MUM1L1, MXRA5, MYH10, MYO10, MYO7A, MYO9B, MYRIP, NACC2, NAP1L3, NAP1L6, NAV2, NCOR2, NDST3, NDUFA1, NDUFA10, NEGR1, NEK10, NELL1, NFAM1, NGF, NGLY1, NHS, NHSL2, NKAP, NKAPL, NKAPP1, NKRF, NLGN2, NLGN3, NLGN4X, NLGN4Y, NLRP2, NLRP7, NONO, NOX1, NR5A2, NRG2, NRK, NSDHL, NSMAF, NSUN4, NTM, NTN4, NUBPL, NUDT10, NUDT4P1, NUP62CL, NUP85, NXF2, NXF2B, NXF3, NXF4, NXF5, NYX, OBSCN, OCRL, ODF3, ODZ1, ODZ2, ODZ4, OFD1, OGFOD1, OGT, OPHN1, OPN1LW, ORC3, OTC, OTUD5, P2RY10, PABPC1, PABPC1L2A, PABPC1L2B, PABPC4, PABPC5, PACSIN1, PAGE1, PAGE2, PAGE4, PAGE5, PAK1, PAK3, PASD1, PCBP3, PCDH11X, PCDH11Y, PCDH19, PCSK1N, PCSK6, PCYT1B, PDE11A, PDE1B, PDE3B, PDHA1, PDK3, PDZD11, PDZD2, PDZD4, PEX11A, PFKFB1, PFKFB3, PGAM1, PGK1, PGM2L1, PHACTR1, PHEX, PHF16, PHF20, PHF6, PHF8, PHKA1, PHKA2, PHLPP2, PIGA, PIGK, PIH1D1, PIK3R3, PIM2, PIN4, PIP5K1C, PIR, PJA1, PJA2, PKD1L3, PKNOX2, PKP2, PLA2G6, PLAC1, PLCD3, PLEKHH2, PLP1, PLS3, PLXNA1, PLXNA2, PLXNA4, PLXNB1, PLXNB3, PNCK, PNLIPRP3, PNMA3, PNMA5, PNPLA4, POF1B, POGZ, POLA1, POLR2D, PORCN, PPEF1, PPFIA4, PPFIBP1, PPP6C, PPP6R3, PQBP1, PRCP, PRDM15, PRDX4, PRDX6, PRHOXNB, PRIM2, PRKAG2, PRKCA, PRKCE, PRKCQ, PRKG1, PRKX, PRKY, PRPS1, PRPS1L1, PRPS2, PRR5-ARHGAP8, PRRG1, PRRG3, PRRX2, PRSS55, PSMD10, PTCHD1, PTGES3L-AARSD1, PTPRT, PXN, PZP, QPCT, RAB11FIP5, RAB30, RAB31, RAB36, RAB3B, RAB41, RAB9BP1, RAC2, RAD51B, RAI1, RAI2, RAP2C, RASGRF1, RASSF2, RBBP7, RBBP9, RBFOX1, RBFOX3, RBM10, RBM3, RBMX, RBMXL1, RBMXL2, REEP5, RELB, RELN, RENBP, REPS2, REV1, RFX8, RGAG1, RGAG4, RGN, RGS7, RGS7BP, RHO, RHOH, RIBC1, RIBC2, RIMBP2, RNF113B, RNF216, RNF220, RP2, RPGR, RPH3AL, RPL10, RPL36AL, RPL39, RPS26, RPS4X, RPS6KA3, RPS6KA6, RRAGB, RRBP1, RS1, RSF1, RTN4RL1, RUFY4, RUSC2, SAGE1, SAMD11, SAT1, SATL1, SCAF4, SCML2, SCN4B, SDCCAG8, SDK2, SEMA4D, SEPT6, SERPINA7, SETD3, SGCD, SGSM2, SH2D1A, SH3BGR, SH3BGRL, SH3KBP1, SH3RF2, SHANK2, SHC4, SHISA9, SHROOM2, SHROOM3, SHROOM4, SIGLEC1, SIGLEC9, SIPA1L3, SLC12A3, SLC12A8, SLC22A20, SLC24A4, SLC25A14, SLC25A4, SLC25A43, SLC25A5, SLC25A53, SLC27A4, SLC30A7, SLC35A2, SLC37A1, SLC38A3, SLC38A5, SLC6A1, SLC6A11, SLC6A14, SLC7A10, SLC7A3, SLC8A1, SLC9A3, SLC9A6, SLC9A7P1, SLC9A9, SLITRK2, SLITRK4, SLMAP, SMARCA1, SMARCA5, SMARCD3, SMC1A, SMCHD1, SMEK2, SMEK3P, SMG6, SMPX, SMTN, SNIP1, SNX16, SNX9, SORBS1, SORCS2, SOX21, SOX3, SPANXA2-OT1, SPANXN1, SPANXN3, SPANXN4, SPANXN5, SPATS2, SPECC1, SPIN1, SPIN3, SPTBN4, SRGAP1, SRP19, SRPK3, SRPX, SRPX2, SRR, SSR4, SSX1, SSX3, SSX5, SSX6, SSX7, SSX8, ST3GAL3, ST5, STAG1, STAG2, STARD8, STAU2, STIM1, STIM2, STK25, STMN1, STS, SUCLA2, SULF2, SULT2B1, SUMO2, SUMO4, SUV39H1, SUV420H2, SVIL, SYAP1, SYN1, SYN3, SYNE1, SYNE2, SYP, SYTL4, SYTL5, TAB2, TAB3, TADA2B, TAF1, TAF1L, TAF7L, TAF9B, TAS1R3, TAZ, TBC1D22B, TBC1D25, TBC1D4, TBC1D8B, TBL1X, TBL1Y, TBX22, TCEAL3, TCEAL6, TCEANC, TCERG1L, TCF7L1, TCF7L2, TCTEX1D2, TDGF1, TDGF1P3, TEK, TERT, TEX11, TEX13A, TEX14, TEX28, TFDP3, TFE3, TG, TGFBR2, TGIF2LX, TGM3, TGM4, THOC2, THSD7A, TIMM17B, TIMP1, TIMP2, TKTL1, TLR7, TLR8, TMCO4, TMEM117, TMEM131, TMEM135, TMEM164, TMEM185A, TMEM27, TMEM35, TMEM47, TMEM51, TMEM92, TMLHE, TMOD1, TMSB15A, TMSB15B, TMSB4X, TMTC2, TMX2-CTNND1, TNIP1, TNMD, TP73, TPCN2, TRAF1, TRAPPC9, TREH, TRMT2B, TRMT61A, TRO, TRPC4, TRPC5, TRPV6, TSC22D3, TSHR, TSPAN17, TSPAN32, TSPAN7, TSPEAR, TTC26, TTC3, TTLL11, TTLL5, TTPAL, TXLNG, UACA, UBA1, UBA6-AS1, UBE2A, UBE2E2, UBE2G1, UBE2NL, UBQLN1, ULK4, UMPS, UNC13C, UNC5B, UNC93A, UPF3B, UPRT, USP11, USP22, USP26, USP36, USP51, USP9X, USP9Y, UTY, VBP1, VCX, VCX2, VCX3A, VCX3B, VDR, VENTX, VENTXP7, VKORC1L1, VMA21, VOPP1, VPS13B, VPS53, VSIG1, VSTM2B, VSTM5, WARS2, WAS, WASF2, WBP2NL, WDR13, WDR25, WDR45, WFS1, WNK3, WNT2, WNT7B, WRN, WWC3, XAGE3, XG, XIAP, XIST, XKRX, YIPF6, YY2, ZBTB16, ZBTB32, ZBTB33, ZBTB46, ZC3H12B, ZCCHC18, ZCCHC5, ZDHHC14, ZDHHC15, ZDHHC9, ZFP41, ZFX, ZFY, ZIC2, ZKSCAN2, ZMAT1, ZMYM3, ZNF169, ZNF180, ZNF182, ZNF185, ZNF221, ZNF275, ZNF280A, ZNF280B, ZNF280C, ZNF280D, ZNF300, ZNF320, ZNF407, ZNF41, ZNF449, ZNF497, ZNF525, ZNF547, ZNF556, ZNF582, ZNF585A, ZNF585B, ZNF609, ZNF618, ZNF630, ZNF673, ZNF674, ZNF71, ZNF711, ZNF75A, ZNF75D, ZNF768, ZNF81, ZNF816-ZNF321P, ZNF827, ZRSR2, ZSCAN20, ZXDB, ZXDC 6369 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) - A1BG, A2LD1, AAK1, AARSD1, ABCB1, ABCB7, ABCC6, ABCD1, ABHD6, ABO, ACBD6, ACE2, ACOT9, ACSBG1, ACSL4, ACTB, ACTG1, ACTG2, ACTL8, ACTRT2, ADAMTS12, ADAMTSL1, ADAMTSL3, ADCY3, ADCY5, ADCY7, ADIPOR2, ADRA1D, ADRBK1, AFF2, AGBL4, AIFM1, AK5, AKAP14, AKAP4, ALAS2, ALK, AMELX, AMOT, ANK2, ANP32A, AP1S2, AP2A2, APCDD1L, APLN, APOO, APOOL, APP, ARHGAP15, ARHGAP20, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF3, ARHGEF6, ARHGEF9, ARID4B, ARL13A, ARL13B, ARMC4, ARMCX2, ARMCX5, ARMCX5-GPRASP2, ARNTL, ARPC1A, ARR3, ARSD, ARSE, ARSF, ARSH, ARX, ASB11, ASB9, ASCC2, ASTN1, ASTN2, ATG14, ATG4A, ATP11C, ATP13A5, ATP1B4, ATP2B2, ATP2B3, ATP2B4, ATP6AP1, ATP6AP2, ATP7A, ATPBD4, ATR, ATRX, ATXN10, AVPR2, AWAT1, AWAT2, AXDND1, AZI1, B9D1, BAI3, BCAP31, BCAS3, BCAT1, BCOR, BCORL1, BDP1, BEND2, BEND6, BEX2, BEX4, BEX5, BGN, BHLHB9, BICC1, BIRC8, BLVRA, BMP15, BMP8A, BMX, BRSK2, BRWD3, C11orf49, C11orf9, C14orf159, C19orf18, C1orf146, C1orf21, C2orf54, C4orf27, C4orf32, C6orf106, C9orf171, CA5B, CA5BP1, CACNA1C, CACNA1D, CACNA1F, CACNA1I, CACNA1S, CADPS2, CAMTA1, CANT1, CAPN6, CASK, CCBL2, CCDC109B, CCDC112, CCDC12, CCDC120, CCDC158, CCDC18, CCDC22, CCDC85A, CCL17, CCNB3, CCND1, CCNF, CD209, CD40LG, CD81, CD99L2, CDH10, CDH3, CDK16, CDK18, CDYL, CDYL2, CECR3, CELF4, CELP, CENPI, CETN2, CFDP1, CFP, CHKB, CHKB-CPT1B, CHM, CHORDC1, CHRDL1, CHST7, CITED1, CLCN4, CLCN5, CLDN14, CLDN2, CLIC5, CLIP2, CLMP, CMIP, CNKSR3, CNOT6, CNTN3, CNTNAP2, COBLL1, COL20A1, COL23A1, COL28A1, COL4A5, COL4A6, CPA5, CPNE5, CPT1B, CPXCR1, CREBBP, CSAG1, CSMD2, CSRP1, CSTF2, CSTF2T, CT45A5, CT45A6, CTAG2, CTIF, CTNNA1, CTNND2, CTNS, CTPS2, CTSB, CTU1, CUL4B, CXorf1, CXorf24, CXorf26, CXorf36, CXorf38, CXorf40A, CXorf40B, CXorf48, CXorf56, CXorf57, CXorf58, CXorf59, CXorf61, CXorf65, CXorf66, CXorf67, CXXC1P1, CYHR1, CYP2C18, CYP4F11, CYSLTR1, DAB1, DACH2, DCAF8L1, DCC, DCX, DDX26B, DDX3X, DDX3Y, DDX43, DGKD, DGKK, DIAPH2, DKC1, DLC1, DLG3, DLG3-AS1, DLG5, DLGAP1, DMD, DMRT3, DNAH2, DNAJC10, DNAJC17, DNASE1L1, DNHD1, DOCK10, DOCK11, DOCK3, DOCK5, DPP6, DPPA3, DRP2, DUOX2, DUSP18, DUSP9, DUXA, DYNLT3, DYSF, EBF1, EBP, ECEL1P2, ECT2L, EDA, EDA2R, EEA1, EFHC2, EFNB1, EFNB2, EGFL6, EGFLAM, EHD4, EIF1AX, EIF2S3, EIF3H, EIF5A, ELAC2, ELF4, ELN, ENOX2, ENPEP, EPB41L4B, EPHB1, ERCC8, ERLIN2, ESX1, EYA3, EZR, F5, F8, FAAH2, FAM104B, FAM120C, FAM122B, FAM122C, FAM127B, FAM127C, FAM133A, FAM155B, FAM175A, FAM178B, FAM188B, FAM20B, FAM47B, FAM47C, FAM50B, FAM58A, FAM58BP, FAM70A, FAM83H, FAM91A1, FAM9B, FANCB, FANCC, FARP1, FARS2, FAS, FAT3, FATE1, FCGBP, FER, FGD1, FGD2, FGD5, FGF13, FGF14, FGF9, FHL1, FIGF, FLNA, FLNB, FMN1, FMR1, FMR1NB, FOXO4, FOXP3, FOXR1, FOXR2, FRMD7, FRMPD4, FTCD, FTH1P18, FTSJ1, FTX, FUNDC1, FUNDC2P2, FZD2, G0S2, GAB3, GABRA3, GABRE, GABRQ, GAGE12I, GAGE2B, GAGE2D, GALNT10, GALNT9, GALNTL6, GANC, GAS2L3, GATA1, GDI1, GDI2, GDPD2, GDPD5, GEMIN8P4, GFPT1, GJD4, GK, GK3P, GLB1, GLDN, GLI2, GLIS1, GLOD5, GLRA1, GLRA2, GLRA3, GLT1D1, GLUD1, GMDS, GNAO1, GNG7, GNL3L, GPC3, GPC4, GPC6, GPKOW, GPM6B, GPR101, GPR112, GPR143, GPR173, GPR174, GPR34, GPR50, GPR64, GPRASP1, GPRASP2, GRB2, GRIA1, GRIA3, GRIA4, GRIK3, GRIN2A, GRIPAP1, GRM6, GRPR, GSPT1, GSTA1, GUCY2F, GXYLT2, GYG2, H2BFM, H2BFWT, H2BFXP, HAAO, HABP2, HAUS7, HCFC1, HDAC4, HDAC6, HDAC8, HDLBP, HDX, HELZ, HEPH, HFM1, HGS, HHIPL1, HHLA2, HMGB3, HMGN1, HMGN5, HMGXB3, HNRNPA1, HNRNPA1L2, HNRNPA1P10, HNRNPH1, HNRNPH2, HNRNPH3, HPRT1, HS3ST3B1, HS6ST2, HS6ST2-AS1, HSFY1, HTATSF1, HTATSF1P2, HTR2C, HTR4, IDS, IFI16, IGBP1, IGLON5, IGSF1, IL13RA1, IL17RC, IL1RAPL1, IL1RAPL2, IL2RG, IMMP2L, INE1, INE2, INMT-FAM188B, INTS9, IQSEC2, IRAK1, ISPD, ITPK1, ITPR1, ITSN2, JAKMIP1, JAZF1, JHDM1D, JPX, KAL1, KCND1, KCNE1L, KCNG1, KCNG3, KCNIP1, KCNJ12, KCNK5, KCNMA1, KCNQ5, KCNU1, KCTD17, KDM4B, KDM4C, KDM5C, KDM6A, KHSRP, KIAA0146, KIAA1210, KIAA2022, KIF13A, KIF1A, KIF4A, KIF4B, KLF8, KLHL12, KLHL13, KLHL15, KLHL2, KLHL4, KLHL5, KSR2, L1CAM, LACE1, LAD1, LANCL3, LAPTM4B, LARGE, LAS1L, LCMT1, LDOC1, LHFPL1, LHPP, LIMA1, LIN52, LINC00086, LINC00087, LINC00269, LIPA, LONRF3, LOXHD1, LOXL2, LPAR4, LPCAT1, LPP, LRCH2, LRFN2, LRP1, LRP6, LRRC20, LRRC4B, LUZP4, LYPLA1, MACROD1, MAD1L1, MAGEA11, MAGEA12, MAGEA6, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGI2, MAGIX, MAMLD1, MAN2A1, MAOB, MAP2K5, MAP2K6, MAP3K15, MAP3K9, MAP7D1, MAP7D3, MAPKAP1, MAU2, MBTPS2, MCF2, MDGA2, MECP2, MED12, MED14, MEI1, MFHAS1, MFI2, MGAT5B, MID1, MID1IP1, MIPEP, MLIP, MLPH, MMGT1, MORF4L2, MOSPD2, MPP1, MS4A15, MSH6, MSI2, MSL3, MSL3P1, MSN, MSRA, MTMR1, MTMR8, MTOR, MTPAP, MTUS2, MUM1L1, MXRA5, MYH10, MYH11, MYH14, MYH7B, MYO10, MYO15A, MYO18B, MYOF, MYOM3, MYPN, MYT1L, NACC2, NAP1L3, NAP1L6, NAV1, NBAS, NBEA, NBPF1, NCKAP5L, NCOR2, NEDD4L, NEK10, NELL1, NGEF, NGF, NGLY1, NHS, NHSL2, NKAP, NKAPL, NKAPP1, NKD2, NKRF, NLGN1, NLGN2, NLGN3, NLGN4X, NLRP2, NONO, NOX1, NPAS3, NR1H3, NRG1, NRK, NRXN3, NSDHL, NTM, NTN4, NUBPL, NUDT10, NUDT4P1, NUP62CL, NUP85, NXF1, NXF2, NXF2B, NXF3, NXF4, NXF5, NYX, OBSCN, OCRL, ODZ1, ODZ4, OFD1, OGT, OLA1, OPHN1, OPN1LW, OR6S1, ORC3, OTC, OTUD5, P2RY10, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE4, PAGE5, PAK1, PAK3, PARK2, PASD1, PAX2, PAX8, PCDH11X, PCDH11Y, PCDH19, PCYT1B, PDCD10, PDE11A, PDHA1, PDK3, PDS5A, PDZD2, PDZD4, PDZRN3, PEX11A, PEX14, PFKFB1, PFKFB2, PGAM1, PGK1, PGM2L1, PHEX, PHF16, PHF6, PHF8, PHKA1, PHKA2, PHKA2-AS1, PHLPP2, PICALM, PIEZO1, PIGA, PIGK, PIK3R3, PIM2, PIM3, PIN4, PIR, PJA1, PKD1L2, PKD1L3, PKN1, PKN3, PKNOX2, PKP2, PLAC1, PLCD3, PLEKHA7, PLEKHH2, PLP1, PLS3, PLXNA1, PLXNA2, PLXNA4, PLXNB3, PMS2P3, PNCK, PNLIPRP1, PNLIPRP3, PNMA3, PNMA5, PNMA6C, PNPLA4, POF1B, POGZ, POLA1, PORCN, POTEF, PP2D1, PPEF1, PPFIBP1, PPIEL, PPP1R16B, PPP2R2C, PQBP1, PRDM16, PRDX4, PREX1, PRIM2, PRKCB, PRKCQ, PRKG1, PRKX, PRPS1, PRPS2, PRR5, PRRG1, PRRG3, PRRX2, PSD4, PSMD10, PTCHD1, PTCRA, PTGES3L-AARSD1, PTMS, PTPRH, PTPRN2, PTPRT, PXDNL, PZP, RAB27A, RAB30, RAB40B, RAB40C, RAB41, RAB9BP1, RABL2A, RAD18, RAI1, RAI2, RAMP3, RAP2C, RBBP7, RBFOX1, RBM3, RBMX, RBMXL1, RBMXL2, RBPMS, RCAN3, RCOR1, REEP5, RELN, RENBP, REPS2, RFTN1, RGAG1, RGAG4, RGN, RGS6, RGS7, RGS7BP, RHOXF2B, RIBC1, RNF113B, RNF144B, RNF181, RNF220, ROBO2, ROR1, RP2, RPGR, RPL10, RPL36A-HNRNPH2, RPL39, RPS26, RPS4X, RPS6KA2, RPS6KA6, RRAGB, RS1, RUSC2, RUVBL1, RYR3, S100G, SAGE1, SAMD12, SAMD3, SARNP, SART3, SAT1, SATL1, SCML2, SCRIB, SDC1, SDK1, SDK2, SEC14L5, SEPT6, SERINC5, SERPINA7, SETD3, SFT2D1, SH2D1A, SH3BGR, SH3BGRL, SH3KBP1, SH3RF2, SHANK2, SHCBP1L, SHISA9, SHROOM2, SHROOM3, SHROOM4, SIGLEC9, SIPA1L3, SLC12A3, SLC12A8, SLC22A15, SLC24A3, SLC25A14, SLC25A37, SLC25A43, SLC25A5, SLC25A53, SLC26A9, SLC30A2, SLC30A7, SLC35A2, SLC37A1, SLC38A5, SLC6A14, SLC7A3, SLC9A6, SLC9A7P1, SLC9A9, SLCO2A1, SLITRK2, SLITRK3, SLITRK4, SLMAP, SMARCA5, SMC1A, SMEK3P, SMG6, SMOX, SMPD3, SMPX, SMYD3, SNIP1, SNX16, SNX29, SNX33, SORCS2, SOX1, SOX21, SOX3, SPANXA2-OT1, SPANXN1, SPANXN3, SPANXN4, SPANXN5, SPIN1, SPIN3, SPIRE1, SPOCK1, SPOCK2, SPSB1, SPTAN1, SRGAP1, SRGAP3, SRP19, SRPK3, SRPX, SRPX2, SRR, SSR4, SSX1, SSX3, SSX4, SSX5, SSX6, SSX7, SSX8, ST3GAL3, STAG2, STARD8, STAU2, STIM1, STIM2, STK39, STMN1, STS, SUMO1, SUMO2, SUMO4, SUV39H1, SYAP1, SYN1, SYN3, SYP, SYT16, SYTL4, SYTL5, TAB2, TAB3, TAF1, TAF1L, TAF4, TAF7L, TAZ, TBC1D22A, TBC1D25, TBC1D4, TBL1X, TBX22, TCEAL3, TCEAL6, TCEANC, TCF7L2, TCTEX1D2, TDGF1, TDGF1P3, TEAD1, TEK, TERT, TEX11, TEX13A, TEX14, TEX28, TFDP1, TFDP3, TFE3, TFF1, TGFBR2, TGIF2LX, TGM3, THADA, THOC2, THSD7A, TIAM1, TIMM17B, TIMP1, TKTL1, TLR8, TMEM117, TMEM131, TMEM135, TMEM164, TMEM178B, TMEM185A, TMEM222, TMEM35, TMEM47, TMEM63C, TMEM65, TMLHE, TMOD1, TMSB15A, TMSB15B, TMSB4X, TMTC2, TNIP1, TNMD, TOLLIP, TPCN2, TRAF1, TREH, TRIO, TRO, TRPC5, TRPV6, TSC22D3, TSHR, TSPAN7, TTC26, TTC7B, TTPAL, TXLNG, TXNDC5, UBA1, UBA6-AS1, UBAC2, UBE2A, UBE2G1, UBE2NL, UBQLN1, UNC13C, UNC5B, UNC5C, UPF3B, UPRT, UROC1, USP11, USP22, USP26, USP34, USP51, USP9X, USP9Y, UTP14A, UTY, VBP1, VCX, VCX2, VCX3A, VCX3B, VDAC1, VDR, VENTX, VENTXP7, VMA21, VPS13B, VPS53, VSIG1, VSTM2B, VWA2, WARS2, WAS, WBP2NL, WBSCR17, WDR13, WDR25, WDR31, WDR44, WDR45, WDR62, WNK3, WNT7B, WRN, WSCD2, WWC3, WWP2, XAGE3, XG, XIAP, XIST, XKRX, XPNPEP2, XPR1, YIPF6, YY2, ZAR1L, ZBED4, ZBTB32, ZBTB33, ZBTB46, ZC3H12B, ZC3H12C, ZCCHC18, ZCCHC5, ZDHHC14, ZDHHC15, ZDHHC9, ZFX, ZIC2, ZMAT1, ZMYM3, ZNF135, ZNF157, ZNF169, ZNF182, ZNF185, ZNF268, ZNF275, ZNF280A, ZNF280B, ZNF280C, ZNF280D, ZNF300, ZNF300P1, ZNF320, ZNF331, ZNF33A, ZNF347, ZNF354C, ZNF37A, ZNF397, ZNF407, ZNF41, ZNF449, ZNF473, ZNF525, ZNF547, ZNF558, ZNF567, ZNF57, ZNF582, ZNF585A, ZNF585B, ZNF618, ZNF630, ZNF673, ZNF674, ZNF71, ZNF711, ZNF749, ZNF75A, ZNF75D, ZNF765, ZNF806, ZNF81, ZRSR2, ZXDB, ZXDC 6404 1 Yu Sun
00115028 - PubMed: Nakamura, Akie carrier, mother of patient 4 F no Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 IGSF1 IGSF1 1 1 Yu Sun
00115029 - PubMed: Nakamura, Akie carrier, mother of patient 3 F ? Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 IGSF1 IGSF1 1 1 Yu Sun
00115030 - PubMed: Nakamura, Akie carrier, mother of patient 1 F no Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 IGSF1 IGSF1 1 1 Yu Sun
00115031 - PubMed: Nakamura, Akie - M - Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 IGSF1 IGSF1 1 1 Yu Sun
00115041 - {DOI10.1038/ng.2453:Sun 2012} E-IV.1 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115042 - - E-IV.3 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115043 - - F-IV.1 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115044 - - F-IV.2 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115045 - - F-II.8 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115046 - PubMed: Nakamura, Akie patient 4 M no Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 IGSF1 IGSF1 1 1 Yu Sun
00115047 - - - M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115048 - - A-II.4 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115049 - - A-I.4 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115050 - - C-III.1 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115051 - - D-III.3 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115052 - - D-III.4 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115053 - - D-I.3 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115054 - - K-II.3 M no Italy - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115055 - - G-III.1 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115056 - - G-III.3 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115057 - {DOI10.1038/ng.2453:Sun 2012} G-I.1 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115058 - - H-III.2 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115059 - - H-III.3 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115060 - - B-III.7 M no United Kingdom (Great Britain) - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115061 - - B-III.8 M no United Kingdom (Great Britain) - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115062 - - B-II.11 M no United Kingdom (Great Britain) - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115063 - - B-I.4 M no United Kingdom (Great Britain) - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115064 - PubMed: Nakamura, Akie patient 3 M no Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 IGSF1 IGSF1 1 1 Yu Sun
00115065 - PubMed: Tajima, Toshihiro - M - Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 IGSF1 IGSF1 1 1 Yu Sun
00115066 - - I-III.2 M no Netherlands - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
00115067 - PubMed: Nakamura, Akie patient 1 M no Japan - - 0 - - CHTE IGSF1 deficiency syndrome; OMIM300888 IGSF1 IGSF1 1 1 Yu Sun
00115068 - {DOI10.1038/ng.2453:Sun 2012} J-III.1 M no Italy - - 0 - - CHTE central hypothyroidism; testicular enlargement IGSF1 IGSF1 1 1 Yu Sun
Legend   How to query  

  Powered by LOVD v.3.0 Build 27
LOVD software ©2004-2022 Leiden University Medical Center 		There are currently no updates.