Multiple Synostoses Syndrome 3; Syns3

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 Multiple Synostoses Syndrome 3; Syns3

FGF9

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple Synostoses Syndrome 3; Syns3

Cleft palate
Flexion contracture
Syndactyly
Proptosis
Craniosynostosis
Dolichocephaly
Toe syndactyly
Broad thumb
Cutaneous syndactyly
Cubitus valgus

And another 7 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.

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.

Multiple Synostoses Syndrome 3; Syns3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FGF9. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). FGF9 Specificity 100 % Genes 100 %
Selected Genetic Syndromes with skeletal involvement Panel. By CeGaT GmbH (Germany). SALL1, SF3B4, TBCE, TBX15, TBX3, TBX5, NIN, SALL4, PCNT, ORC6, CENPJ, CDC6, CDKN1C, CUL7, CREBBP, POC1A, CDT1, FAM111A, LARP7, CCDC8 , (...) View the complete list with 22 more genes Panel complete gene list SALL1, SF3B4, TBCE, TBX15, TBX3, TBX5, NIN, SALL4, PCNT, ORC6, CENPJ, CDC6, CDKN1C, CUL7, CREBBP, POC1A, CDT1, FAM111A, LARP7, CCDC8, CEP63, ESCO2, CCNQ, OBSL1, SH3PXD2B, CEP152, DNA2, EP300, FGF10, FGF9, FGFR2, FGFR3, GDF3, GDF6, LMX1B, MEOX1, MGP, ORC1, ORC4, ATR, RBBP8, RECQL4 Specificity 3 % Genes 100 %
FGF9. By Fulgent Genetics Fulgent Genetics (United States). FGF9 Specificity 100 % Genes 100 %
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked. By Bioarray (Spain). FGF9 Specificity 100 % Genes 100 %
SYNOSTOSIS, MULTIPLE. By Laboratorio de Genetica Clinica SL (Spain). FGF9, GDF5, NOG Specificity 34 % Genes 100 %
Multiple Synostosis Syndrome Type 3 , Sequencing FGF9 Gene. By Reference Laboratory Genetics (Spain). FGF9 Specificity 100 % Genes 100 %
Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics (Spain). TTR, FGF9, FLNB, GDF5, HOXA11, NOG Specificity 17 % Genes 100 %
Tempus xT assay. By Tempus Labs, Inc. (United States). BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2 , (...) View the complete list with 555 more genes Panel complete gene list BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2, SGK1, SCG5, FOXL2, BRAF, BRCA1, BRCA2, SLIT2, SMARCA1, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMO, SOD2, SOX10, SOX2, SOX9, SPINK1, SPOP, SRC, BTG1, BTK, STAG2, STAT3, STAT4, STAT5A, STAT5B, STAT6, STK11, AURKB, AURKA, BUB1B, SYK, EPCAM, TAF1, TBX3, HNF1A, HNF1B, TCF3, TCF7L2, TCL1A, TERT, TGFBR2, NKX2-1, TMPRSS2, TNF, TNFAIP3, TNFRSF14, TNFRSF17, CD40, FAS, TNFRSF9, CD70, MED12, TOP1, TOP2A, TP53, TPM1, TPMT, TRAF3, EGLN1, TSC1, TSC2, TYMS, U2AF1, UGT1A1, UGT1A9, UMPS, KDM6A, VEGFA, VHL, WEE1, NSD2, WRN, WT1, XPA, XPC, XPO1, XRCC1, XRCC2, XRCC3, ACTA2, ZNF217, KAT6A, IKZF1, BCL11B, BRD4, FBXO11, CTCF, KMT2C, HDAC4, CIC, NSD1, CRLF2, PPP1R15A, NHP2, NOP10, CALR, IKBKE, CASP8, CASR, RUNX1T1, CBFB, CBL, CBLB, CBR3, P2RY8, SETBP1, CCND1, CCND2, KMT2B, CCND3, CCNE1, CBLC, TP63, CD19, CARD11, CD22, SUFU, SLC49A4, KIF1B, FBXW7, CDC73, BCLAF1, HSPH1, FRS2, CD79A, CD79B, PIAS4, RNF139, PALLD, ARHGAP26, DICER1, SUZ12, ACVR1B, POT1, ARID5B, CDH1, SPEN, CD274, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, ARID2, ARID1B, EMSY, RSF1, ZNRF3, PHF6, ERRFI1, ASXL1, CEBPA, IFNL3, SETD2, HAVCR2, RNF43, KLHL6, PDCD1LG2, CCDC6, CFTR, CKS1B, CHD2, CHD4, CHEK1, SOCS1, GALNT12, GREM1, SPRED1, AJUBA, BRIP1, DIS3, FANCL, BCOR, FOXQ1, MIB1, QKI, RINT1, PREX2, ZRSR2, NUDT15, FANCM, KEAP1, CREBBP, CRKL, SLX4, CDK12, CSF1R, CSF3R, SMC3, TENT5C, YEATS4, DOT1L, UBE2T, CTLA4, CTNNA1, CTNNB1, CTRC, FANCI, CUX1, CXCR4, BCORL1, ABRAXAS1, CYLD, ZNF750, TET2, CYP1B1, SDHAF2, TMEM127, PALB2, CTC1, CYP2D6, CYP3A5, SLC47A2, DAXX, AMER1, TIGIT, GEN1, DDB2, DDR2, FLCN, DDX3X, TMEM173, RICTOR, DIS3L2, DKC1, TANC1, TBL1XR1, SH2B3, DYNC2H1, DNM2, DNMT3A, PBRM1, VSIR, DPYD, SLC26A3, TUSC3, RPTOR, CEP57, EBF1, EGF, EGFR, ELF3, ENG, EP300, EPHA2, EPHA7, EPHB1, EPHB2, EPOR, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERG, ETS1, ETS2, ETV1, ETV4, ETV5, ETV6, EWSR1, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FAT1, FCGR2A, FCGR3A, FDPS, FGF1, FGF10, FGF14, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FH, FHIT, KLLN, FLG, FLT1, FLT3, FLT4, FNTB, FOXO1, FOXO3, FOXP1, AKT1, AKT2, AKT3, MTOR, ABCB1, FUBP1, G6PD, GATA1, GATA2, GATA3, GATA4, GATA6, ALK, TAP1, GLI1, GNA11, GNA13, GNAQ, GNAS, TAP2, GPC3, GPS2, GRIN2A, ARHGAP35, GRM3, GSTP1, H19, HIST1H1E, H3F3A, HIST1H4E, HAS3, HDAC1, HDAC2, HGF, HIF1A, HLA-A, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, FOXA1, HOXB13, HRAS, HSP90AA1, IDH1, IDH2, ABCC3, IFIT1, IFIT2, IFIT3, IFNAR1, IFNAR2, IFNGR1, IFNGR2, APC, BIRC3, IL10RA, IL15, IL2RA, IL6R, IL7R, IDO1, ING1, INPP4B, IRF1, IRF2, IRF4, IRS2, ITPKB, JAK1, JAK2, JAK3, JUN, KDR, KEL, KIT, KRAS, MAFB, AR, ARAF, LAG3, LDLR, LMNA, LMO1, RHOA, LRP1B, LYN, LZTR1, MAD2L2, SMAD2, SMAD3, SMAD4, MAF, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K7, MAPK1, MAX, MC1R, MCL1, MDM2, MDM4, MEF2B, MEN1, MET, MGMT, CIITA, MITF, MKI67, MLH1, MLH3, KMT2D, MLLT3, MPL, MRE11, MS4A1, MSH2, MSH3, MSH6, MTAP, MTHFR, MTRR, MUTYH, ASNS, MYB, MYC, MYCL, MYCN, MYD88, MYH11, ABL1, NBN, NCOR1, NCOR2, ABL2, NF1, ZFHX3, NF2, NFE2L2, NFKBIA, NOTCH1, NOTCH2, NOTCH3, NPM1, ATIC, ATM, NRAS, NRG1, NT5C2, NTHL1, NTRK1, NTRK2, NTRK3, NUP98, PAK1, PRKN, PAX5, PAX7, PAX8, PCBP1, ATP7B, PDCD1, PDGFRA, PDGFRB, PDK1, PDPK1, ATR, ATRX, PIK3C2B, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIM1, AXIN1, AXIN2, AXL, PLCG2, PML, PMS1, PMS2, B2M, PHOX2B, POLD1, POLE, POLH, POU2F2, PPP2R1A, PPP2R2A, PPP6C, PRCC, PRDM1, PRKAR1A, PRSS1, PRSS2, BAP1, BARD1, PTCH1, PTCH2, PTEN, PTPN11, PTPN13, PTPN22, PTPRD, RAC1, RAD21, RAD50, RAD51, RAD51C, RAD51B, RAD51D, RAD54L, RAF1, RANBP2, RARA, RASA1, RB1, KDM5A, BCL10, RBM10, BCL2L1, BCL2L11, RECQL4, RET Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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