Short-rib Thoracic Dysplasia 14 With Polydactyly; Srtd14

Table of contents:

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

Description

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Genes related to Short-rib Thoracic Dysplasia 14 With Polydactyly; Srtd14

KIAA0586

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Clinical Features

Top most frequent phenotypes and symptoms related to Short-rib Thoracic Dysplasia 14 With Polydactyly; Srtd14

Generalized hypotonia
Cleft palate
Low-set ears
Depressed nasal bridge
Abnormality of the skeletal system
Short neck
Respiratory insufficiency
Hydrocephalus
Atrial septal defect
Edema

And another 28 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.

Researches and researchers

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Short-rib Thoracic Dysplasia 14 With Polydactyly; Srtd14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...) View the complete list with 66 more genes Panel complete gene list RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9, CDAN1, KAT6B, ALG1, CHRNA1, CHRND, CHRNG, CANT1, KIAA0586, CLCNKA, CLCNKB, SUMF1, PEX26, FAT4, DHCR7, PIEZO1, WDR35, CCBE1, GNPTAB, FGFR3, FOXC2, G6PD, GALNS, GATA1, GBA, GBE1, GLA, GLB1, GUSB, HADHA, HADHB, HRAS, IDUA, FOXP3, KLF1, KIF23, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MID1, KMT2D, ASAH1, MVK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PIGA, PKLR, PMM2, CTSA, PTH1R, PTPN11, PEX19, PEX5, RAF1, RASA1 Specificity 2 % Genes 100 %
Joubert/Meckel-Gruber syndrome Panel. By Genetic Services Laboratory University of Chicago (United States). CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...) View the complete list with 13 more genes Panel complete gene list CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, RPGRIP1L, CC2D2A, IFT172, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D Specificity 4 % 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 %
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...) View the complete list with 13 more genes Panel complete gene list CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, RPGRIP1L, CC2D2A, IFT172, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D Specificity 4 % Genes 100 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...) View the complete list with 457 more genes Panel complete gene list BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1, SOX10, BTD, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, CDKL5, STUB1, STXBP1, SUCLG1, SUOX, SURF1, TBCE, TWNK, TCF4, TCN2, TH, ACO2, TINF2, NKX2-1, TRPC3, TSFM, CEP41, TTPA, TTR, UBE3A, UCHL1, UQCRB, VAMP1, VARS, VLDLR, VRK1, WFS1, WWOX, XPA, XRCC4, YME1L1, ZIC1, SAMD9L, ATP8A2, ERLIN2, FBXL4, AAAS, PRX, CA8, CACNA1A, CACNA1G, PRDM8, CACNB4, PCDH19, SCYL1, ELOVL4, TMEM237, NPC2, CAPN1, PUM1, CASK, SNX14, CAV1, TSEN34, CHCHD10, LRPPRC, BSCL2, ABHD12, PANK2, NDUFAF5, APTX, SLC52A3, DNAJC5, TGM6, SLC19A3, PNPLA6, KIF1B, SCARB2, COQ8A, DGAT2, ERLIN1, PRICKLE1, NIPA1, MLC1, SYNE1, SLC39A4, RRM2B, TRNT1, TPK1, GJC2, PDSS1, TDP2, EXOSC3, FKRP, ADA2, NAXE, RNASEH1, SPART, CPT1C, COG4, RTN4IP1, PMPCA, ATPAF2, CAMTA1, NDUFAF1, TDP1, GBA2, NALCN, EBF3, POMGNT1, TTBK2, MECR, COQ4, DDHD1, POMT2, TECPR2, KIAA0586, CCDC88C, POLR1C, CLCN2, COQ6, NUBPL, CHAMP1, PRICKLE2, NDUFA11, SPG21, SUMF1, ZIC4, MBD5, APOPT1, L2HGDH, CYP2U1, TPP1, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, TUBB, CLN8, CLPP, AARS2, HACE1, NDUFAF4, FARS2, FA2H, ELOVL5, RARS2, INPP5E, AHI1, NHLRC1, RNASET2, RNF216, BRAT1, COL18A1, KCTD7, AP5Z1, COX10, COX15, COX6B1, GMPPB, CP, PEX26, PDSS2, SLC13A5, SYT14, ALG6, UBA5, ETHE1, NDUFA12, B9D1, BEAN1, PTRH2, TACO1, WDR62, TCTN3, SIL1, FLVCR1, CSTB, CEP104, CTBP1, OTUD4, CTDP1, TMEM216, MARS2, LRSAM1, TMEM240, SLC25A46, MMADHC, COQ2, CTSD, COQ9, CTSF, RNF170, ARL13B, C19orf12, ANO10, MTPAP, DARS2, CUL4B, CWF19L1, TTC21B, OFD1, TRAPPC11, TCTN2, REEP1, CPLANE1, POMGNT2, WDR73, PIGG, TTC19, CYP27A1, TMEM70, TCTN1, CTC1, CSPP1, PIEZO2, HEPACAM, UROC1, CYP7B1, WDR81, RNF168, CEP120, NAT8L, C12orf65, FOXRED1, TMEM138, COX20, DBT, DCX, IBA57, TSEN54, SLC6A19, NDUFAF2, TMEM107, COX14, VWA3B, TMEM67, TSEN2, MFSD8, NDUFAF6, DKC1, DLAT, DLD, ZNF592, RUBCN, CEP290, KIAA0556, IFT140, TELO2, ADSL, DDHD2, FASTKD2, RPGRIP1L, TBC1D24, CC2D2A, DMXL2, SH3TC2, ROGDI, KIDINS220, ARV1, UQCRQ, DYNC1H1, MTFMT, DNM2, DNMT1, DOCK3, NDUFAF3, PIK3R5, DPM1, POLR3A, ATP13A2, RFT1, SLC52A2, POLR3B, KIF7, PRRT2, SLC46A1, DNAJC19, SEPSECS, TYMP, AFG3L2, EEF2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EOMES, COA5, SDHAF1, EPM2A, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FKTN, FGF12, FGF14, ISPD, FMR1, FOLR1, FOXG1, FXN, FTL, PET100, ALDH5A1, GABRB3, GALC, B4GALNT1, GAMT, GAN, GBE1, GCH1, GFAP, GJA1, GJB1, GLB1, GCLC, ALS2, GOSR2, SETX, GPI, AMACR, ADGRG1, GRID2, GRM1, GRN, GSS, ABCB7, HARS, HCN1, HERC1, HEXA, HEXB, HIBCH, HLCS, HNRNPH2, HSD17B4, HSPD1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNQ2, KIF1C, KIF5A, L1CAM, LAMA1, LARGE1, LIG4, LMNB1, LMNB2, LRP4, MAG, MAPK10, ARL6IP1, MECP2, MKS1, ARSA, MME, MPDU1, MPV17, MPZ, MRE11, ASL, MT-TP, MVK, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NF2, ATCAY, NOL3, PNP, NPC1, NPHP1, ATM, ATP1A2, ATP1A3, NT5C2, NUP62, OPA1, OPA3, OPHN1, ATP2B3, OTC, PAX6, PC, ATP7B, PCNA, CHMP1A, PDE6D, PDHA1, PDHB, PDYN, PEX1, PEX10, PEX16, PEX7, KIF1A, PGK1, AUH, PGM3, PHYH, PLA2G6, PLP1, PMM2, PMP22, PNKD, PNKP, POLG, POMT1, CTSA, PPT1, PRF1, PRKCG, DNAJC3, PRNP, PRPS1, HTRA1, PSAP, SLC33A1, PSEN1, PTS, PEX2, ALDH18A1, BCKDHA, BCKDHB, RARS, RELN Specificity 1 % Genes 100 %
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...) View the complete list with 18 more genes Panel complete gene list CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, RPGRIP1L, CC2D2A, IFT172, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D Specificity 3 % Genes 100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...) View the complete list with 286 more genes Panel complete gene list RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1, ACO2, TIMM8A, TIMP3, TREX1, CEP41, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1, WFS1, ARL6, RPGRIP1, CDH23, CA4, ADGRA3, CABP4, CACNA1F, PRDM13, IFT81, C1QTNF5, ELOVL4, TMEM237, CDHR1, PCDH15, CAPN5, OR2W3, PRPF31, KLHL7, PRPF6, KIZ, ABHD12, PANK2, RP1L1, DNAJC5, PNPLA6, USH1G, WHRN, TRIM32, TUBGCP4, ZNF423, MFN2, ADAMTS18, ARL2BP, DHX38, RIMS1, PRPF8, TRNT1, PRPF3, PRPF4, ADGRV1, CDH3, INVS, NMNAT1, RDH11, CEP83, MFRP, TUBGCP6, SLC4A5, RCBTB1, RAX2, WDR19, IMPG2, CEP250, IFT27, RTN4IP1, BBS7, CLUAP1, NPHP4, HMCN1, CHM, RD3, KCNV2, VSX2, KIAA0586, TTLL5, RDH12, ZNF408, TTC8, CACNA2D4, SPATA7, DHDDS, IFT88, TPP1, CLN3, CLN5, CLN6, CLN8, PITPNM3, INPP5E, CNGA1, CNGA3, CNGB1, CNGB3, EYS, AHI1, ADAM9, TSPAN12, TOPORS, CERKL, VPS13B, COL11A1, COL11A2, COL18A1, COL9A1, COL9A2, COL9A3, KIAA1549, PEX26, GNPTG, CYP4V2, ACBD5, CRB1, CRX, ADIPOR1, B9D1, CISD2, TCTN3, MMACHC, CIB2, VCAN, FLVCR1, LRIT3, TMEM216, CTNNA1, CTNNB1, NXNL1, SLC25A46, CTSD, TMEM126A, ARL13B, TTC21B, OFD1, CEP78, TCTN2, CPLANE1, FAM161A, TCTN1, AGBL5, CSPP1, PDZD7, BBS10, CFAP57, ZNF513, HGSNAT, BBS12, C12orf65, TMEM138, C8orf37, WDPCP, BBIP1, TMEM107, TMEM67, MFSD8, B9D2, DRAM2, IQCB1, EMC1, CEP290, IFT140, RPGRIP1L, CEP164, WDR35, CC2D2A, IFT80, SLC7A14, IFT43, BBS9, REEP6, RGS9BP, IFT172, KIF7, POC1B, SNRNP200, GPR179, MIR204, LCA5, EFEMP1, PRCD, ABCA4, PCARE, AIPL1, FBLN5, TMEM231, DTHD1, ISPD, FSCN2, FZD4, GDF6, ALMS1, GJB2, GJB6, GNAT1, GNAT2, AMACR, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HCN1, CFH, HK1, HMX1, IDH3A, IDH3B, ABCC6, IMPDH1, IMPG1, ABCD1, ITM2B, JAG1, KCNJ13, KIF11, LAMA1, LARGE1, LRAT, LRP2, LRP5, LZTFL1, MAK, ARL3, MERTK, MKKS, MKS1, TRPM1, MTTP, MVK, MYO7A, NDP, NEK2, NEUROD1, NPHP1, NPHP3, ATF6, NR2E3, NR2F1, NRL, FRMD7, NYX, OAT, OPA1, OPA3, OTX2, PAX2, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGK1, PHYH, PLA2G5, PPT1, PRKCG, PROM1, PRPS1, BBS1, BBS2, BBS4, BBS5, PEX19, PEX2, PEX5, RAB28, RBP3, RBP4, RDH5, PRPH2, RGR Specificity 1 % Genes 100 %
Skeletal dysplasia ciliopathy Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). CFAP410, IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, DYNC2LI1, TTC21B, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1 Specificity 6 % Genes 100 %

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Sources and references

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