Erythrokeratodermia Variabilis Et Progressiva 4; Ekvp4

Table of contents:

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

Description

Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet (summary by Boyden et al., 2017).For a discussion of genetic heterogeneity of EKVP, see EKVP1 (OMIM ).

Genes related to Erythrokeratodermia Variabilis Et Progressiva 4; Ekvp4

KDSR

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Erythrokeratodermia Variabilis Et Progressiva 4; Ekvp4

Pneumonia
Erythema
Epidermal acanthosis
Thickened skin
Palmoplantar hyperkeratosis
Scaling skin

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.

Erythrokeratodermia Variabilis Et Progressiva 4; Ekvp4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KDSR. By Institute for Human Genetics University Clinic Freiburg (Germany). KDSR Specificity 100 % Genes 100 %
Ichthyosis Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...) View the complete list with 7 more genes Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 Specificity 4 % Genes 100 %
Ichthyosis NGS panel. By Connective Tissue Gene Tests (United States). ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...) View the complete list with 7 more genes Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 Specificity 4 % Genes 100 %
Ichthyosis Comprehensive panel. By Connective Tissue Gene Tests (United States). ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...) View the complete list with 7 more genes Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 Specificity 4 % Genes 100 %
Erythrokeratodermias and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). DSP, KDSR, GJA1, GJB4, KRT83, LOR Specificity 17 % Genes 100 %
Erythrokeratodermias and related disorders NGS panel. By Connective Tissue Gene Tests (United States). DSP, KDSR, GJA1, GJB4, KRT83, LOR Specificity 17 % Genes 100 %
Erythrokeratodermias and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). DSP, KDSR, GJA1, GJB4, KRT83, LOR Specificity 17 % 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 %

You can get up to 1 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PACHYONYCHIA CONGENITA 3; PC3 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA