Ectodermal Dysplasia 9, Hair/nail Type; Ectd9

Table of contents:

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

Description

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).

Genes related to Ectodermal Dysplasia 9, Hair/nail Type; Ectd9

HOXC13

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Clinical Features

Top most frequent phenotypes and symptoms related to Ectodermal Dysplasia 9, Hair/nail Type; Ectd9

Cryptorchidism
Hernia
Inguinal hernia
Alopecia
Nail dystrophy
Hypotrichosis
Ectodermal dysplasia
Abnormality of the genital system
Fragile nails
Concave nail

And another 1 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

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.

Ectodermal Dysplasia 9, Hair/nail Type; Ectd9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ectodermal dysplasia (NGS panel for 8 genes). By CGC Genetics (Portugal). EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1 Specificity 13 % Genes 100 %
Ectodermal dysplasia (NGS panel for 8 genes). By CGC Genetics (Portugal). EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1 Specificity 13 % Genes 100 %
Ectodermal dysplasia Comprehensive panel. By Connective Tissue Gene Tests (United States). EDARADD, KDF1, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1 Specificity 12 % Genes 100 %
Ectodermal dysplasia Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). EDARADD, KDF1, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1 Specificity 12 % Genes 100 %
Ectodermal dysplasia NGS panel. By Connective Tissue Gene Tests (United States). EDARADD, KDF1, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1 Specificity 12 % Genes 100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel. By CeGaT GmbH (Germany). BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19 , (...) View the complete list with 35 more genes Panel complete gene list BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19, LIPH, NECTIN4, CYP26C1, TWIST2, ANTXR1, GTF2H5, DSG4, CTSC, OFD1, GRHL2, KRT74, EDAR, DLX3, WDR35, IFT43, DSP, EDA, FGF10, FGFR2, FGFR3, GJA1, GJB6, HOXC13, HR, KRT14, KRT81, KRT83, KRT85, KRT86, MSX1, NFKBIA, PIGL, PKP1, AXIN2, NECTIN1 Specificity 2 % Genes 100 %
Ectodermal Dysplasia Panel. By Blueprint Genetics (Finland). RMRP, BCS1L, IFT122, WNT10A, EDARADD, TP63, MPLKIP, CDH3, PORCN, EVC2, EDAR, WDR35, DSP, EDA, ERCC2, EVC, GJB2, GJB6, HOXC13, HR , (...) View the complete list with 3 more genes Panel complete gene list RMRP, BCS1L, IFT122, WNT10A, EDARADD, TP63, MPLKIP, CDH3, PORCN, EVC2, EDAR, WDR35, DSP, EDA, ERCC2, EVC, GJB2, GJB6, HOXC13, HR, JUP, LRP6, PRKD1 Specificity 5 % Genes 100 %
Caris MI TumorSeek 592-Gene NGS Panel. By Caris Life Sciences (United States). BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2 , (...) View the complete list with 559 more genes Panel complete gene list BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2, SRSF3, SH3GL1, STIL, FOXL2, BRAF, BRCA1, BRCA2, SLC34A2, BRD3, SMARCA4, SMARCB1, SMARCE1, ARID1A, KDM5C, SMO, SOX10, SOX2, SPOP, SRC, BTG1, ABI1, BTK, SSX1, SS18, STAG2, STAT3, STAT4, STAT5B, STK11, AURKB, AURKA, BUB1B, SYK, TAF15, TAL1, TAL2, TCEA1, HNF1A, TCF12, TCF3, TCF7L2, TCL1A, TERT, TFE3, TFEB, TFG, TFRC, TGFBR2, NKX2-1, TMPRSS2, TNFAIP3, TNFRSF14, TNFRSF17, FAS, ZNF384, MED12, TOP1, TP53, TPM3, TPM4, TPR, TRIP11, TRRAP, TSC1, TSC2, U2AF1, USP6, KDM6A, VEGFA, VEGFB, VHL, EZR, WAS, NSD2, NSD3, CCN6, WRN, WT1, XPA, XPC, XPO1, YWHAE, ZBTB16, TRIM26, ZMYM2, ZNF217, KAT6A, PATZ1, EML4, CNBP, IKZF1, BCL11A, BCL11B, TLX3, BRD4, FBXO11, TFPT, CTCF, KMT2C, HERPUD1, ASPSCR1, CACNA1D, PRDM16, ARHGEF12, CIC, NSD1, CRLF2, MRTFA, RANBP17, RNF213, CALR, IKBKE, NIN, CARS, RBM15, CASP8, RUNX1T1, CBFA2T3, CBFB, CBL, CBLB, GPHN, NCKIPSD, ZNF331, PICALM, P2RY8, SETBP1, PDE4DIP, SS18L1, CCND1, CCND2, SEPT6, CCND3, CCNE1, CBLC, CRTC1, MLLT10, MAML2, TRIM33, CARD11, SUFU, ACSL6, FBXW7, CDC73, UBR5, CD74, CD79A, CD79B, MLLT11, CLP1, FGFR1OP, FNBP1, ERC1, ARHGAP26, DICER1, SUZ12, POT1, CDH1, CDH11, SPEN, KAT6B, CD274, GOPC, RABEP1, CDK4, CDK6, CDK8, VTI1A, ADGRA2, CDKN1B, AFF4, CDKN2A, CDKN2B, CDKN2C, ARID2, CDX2, EMSY, WIF1, PHF6, ASXL1, CEBPA, SETD2, RNF43, FCRL4, FEV, CNTRL, MSI2, KLHL6, PDCD1LG2, CCDC6, CAMTA1, CREB3L1, FIP1L1, CHEK1, CHIC2, SOCS1, CHN1, CCNB1IP1, SBDS, CANT1, SRGAP3, TRAF7, BRIP1, FANCL, BCOR, CLTC, CLTCL1, TTL, KIAA1549, COPB1, COX6C, THRAP3, ZRSR2, ELL, KEAP1, CREB1, CREBBP, HOOK3, CRKL, ACKR3, CREB3L2, WWTR1, KNL1, CDK12, CSF1R, CSF3R, ZNF521, TENT5C, DOT1L, CTLA4, CTNNA1, CTNNB1, BCORL1, CYLD, ZNF703, TET2, SDHAF2, PALB2, CRTC3, WDCP, CYP2D6, DAXX, AMER1, DDB2, DDIT3, DDR2, FLCN, DDX10, DDX5, DDX6, DEK, CHCHD7, RMI2, GID4, RICTOR, JAZF1, NUP93, TET1, TBL1XR1, SH2B3, MDS2, DNM2, DNMT3A, NUTM1, PBRM1, RPTOR, SPECC1, LRIG3, EBF1, EGFR, EIF4A2, ELF4, ELK4, ELN, EP300, EPHA3, EPHA5, EPHB1, EPS15, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ETV1, ETV4, ETV5, ETV6, MECOM, EWSR1, EXT1, EXT2, EZH2, ACSL3, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FGF10, FGF14, FGF19, FGF23, FGF3, FGF4, FGF6, FGFR1, FGFR2, FGFR3, FGFR4, FH, FHIT, FLI1, FLT1, FLT3, FLT4, AKAP9, FOXO1, FOXO3, FOXP1, AKT1, AKT2, AKT3, MTOR, FSTL3, FUBP1, FUS, KDSR, GAS7, GATA1, GATA2, GATA3, ALK, GMPS, GNA11, GNA13, GNAQ, GNAS, GOLGA5, GPC3, LGR5, GRIN2A, GSK3B, H3F3A, H3F3B, HIST1H3B, HIST1H4I, HEY1, HGF, HIP1, HLF, MNX1, HMGA2, HMGA1, FOXA1, HNRNPA2B1, TLX1, HOXA11, HOXA13, HOXA9, HOXC11, HOXC13, HOXD11, HOXD13, HRAS, HSP90AA1, HSP90AB1, IDH1, IDH2, IGF1R, APC, BIRC3, IL2, IL21R, IL6ST, IL7R, INHBA, IRF4, IRS2, ITK, JAK1, JAK2, JAK3, JUN, KCNJ5, KDR, KIF5B, KIT, KLF4, KLK2, KRAS, MAFB, AR, ARAF, KTN1, AFF3, LASP1, LCK, LCP1, LHFPL6, LIFR, ARFRP1, LMO1, LMO2, LPP, LRP1B, LYL1, SMAD2, SMAD4, MAF, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, RHOH, MAX, MCL1, MDM2, MDM4, MEF2B, ARNT, MEN1, MET, CIITA, MITF, MLF1, MLH1, KMT2D, MLLT1, AFF1, MLLT3, AFDN, MLLT6, FOXO4, MN1, MPL, MRE11, SEPT9, MSH2, MSH6, MSN, MTCP1, MUC1, MUTYH, MYB, MYC, MYCL, MYCN, MYD88, MYH11, MYH9, ABL1, NACA, NBN, NCOA1, NCOA2, NCOA4, NDRG1, ABL2, NF1, NF2, NFE2L2, NFIB, NFKB2, NFKBIA, ATF1, NONO, CNOT3, NOTCH1, NOTCH2, NPM1, ATIC, ATM, NR4A3, NRAS, ATP1A1, NT5C2, NTRK1, NTRK2, NTRK3, NUMA1, NUP214, NUP98, ATP2B3, PAFAH1B2, PAK3, PAX3, PAX5, PAX7, PAX8, PBX1, SLC45A3, PCM1, PCSK7, PDCD1, PDGFB, PDGFRA, PDGFRB, PDK1, ATR, PER1, ATRX, PIK3CA, PIK3CG, PIK3R1, PIK3R2, PIM1, AXIN1, PLAG1, AXL, PML, PMS1, PMS2, PRRX1, PHOX2B, SEPT5, POLE, POU2AF1, POU5F1, PPARG, PPP2R1A, PRCC, PRDM1, PRF1, PRKAR1A, OLIG2, PRKDC, BAP1, BARD1, PSIP1, PTCH1, PTEN, PTPN11, PTPRC, RAC1, RAD21, RAD50, RAD51, RAD51B, RAF1, RALGDS, RAP1GDS1, RARA, RB1, KDM5A, BCL10, BCL2L11, RECQL4, BCL2L2, REL, RET, TRIM27, BCL3 Specificity 1 % Genes 100 %

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Sources and references

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