Oculodentodigital Dysplasia, Autosomal Recessive

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 Oculodentodigital Dysplasia, Autosomal Recessive

GJA1

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Clinical Features

Top most frequent phenotypes and symptoms related to Oculodentodigital Dysplasia, Autosomal Recessive

Global developmental delay
Short stature
Failure to thrive
Micrognathia
Cataract
Low-set ears
Delayed speech and language development
Epicanthus
Myopia
Downslanted palpebral fissures

And another 46 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.

Alternative names

Oculodentodigital Dysplasia, Autosomal Recessive Is also known as odod, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, oddd, autosomal recessive.

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.

Oculodentodigital Dysplasia, Autosomal Recessive Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Oculodentodigital Dysplasia. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States). GJA1 Specificity 100 % Genes 100 %
Anophthalmia/microphthalmia. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark). BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...) View the complete list with 9 more genes Panel complete gene list BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3, GDF6, GJA1, GLI3, ABCB6, HCCS, NHS, OTX2, PAX2, RARB Specificity 4 % Genes 100 %
Heterotaxy V2 Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ZIC3, CRELD1, ACVR2B, CFC1, BCL9L, NKX2-5, CFAP53, DNAH11, DNAH5, NAT10, SHROOM3, LEFTY2, FOXH1, GATA6, GDF1, GJA1, NODAL Specificity 6 % Genes 100 %
GJA1 sequencing. By Genetic Services Laboratory University of Chicago (United States). GJA1 Specificity 100 % 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 %
GJA1. By Institute for Human Genetics University Clinic Freiburg (Germany). GJA1 Specificity 100 % Genes 100 %
Lymphedema NGS Multi-Gene Panel (36 Genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS , (...) View the complete list with 16 more genes Panel complete gene list BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS, ABCC9, ITGA9, KIF11, KRAS, MAP2K1, MAP2K2, MET, MPI, NAGA, NRAS, PEPD, PMM2, PTPN11, PTPN14, RAF1, RELN Specificity 3 % Genes 100 %
GJA1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). GJA1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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