Palmoplantar Keratoderma And Congenital Alopecia 1; Ppkca1

Description

Palmoplantar keratoderma and congenital alopecia-1 (PPKCA1) is a rare autosomal dominant disorder characterized by severe hyperkeratosis and congenital alopecia. Nail changes occur in some patients (summary by Castori et al., 2010).Also see PPKCA2 (OMIM ), an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation.

Clinical Features

Top most frequent phenotypes and symptoms related to Palmoplantar Keratoderma And Congenital Alopecia 1; Ppkca1

  • Scoliosis
  • Cataract
  • Alopecia
  • Erythema
  • Hyperkeratosis
  • Hyperhidrosis
  • Ichthyosis
  • Dry skin
  • Abnormality of skin pigmentation
  • Palmoplantar keratoderma
And another 13 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Palmoplantar Keratoderma And Congenital Alopecia 1; Ppkca1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Oculodentodigital Dysplasia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

GJA1
Specificity
100 %
Genes
100 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

RAX, ABCB6, MFRP, OTX2, NHS, STRA6, HCCS, BCOR, SIX6, SOX2, PAX2, PORCN, COL4A1, TFAP2A, GLI3, GDF6, FOXE3, GJA1, RARB, VAX1 , (...)

View the complete list with 9 more genes
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 in United States.

NODAL, FOXH1, DNAH11, DNAH5, NKX2-5, GJA1, ZIC3, GDF1, SHROOM3, LEFTY2, CRELD1, ACVR2B, GATA6, CFC1, NAT10, CFAP53, BCL9L
Specificity
6 %
Genes
100 %
GJA1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

GJA1
Specificity
100 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
GJA1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GJA1
Specificity
100 %
Genes
100 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

RAF1, ALG8, MPI, PMM2, BRAF, GJC2, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, MET, GATA2, RELN, HGF , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
GJA1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GJA1
Specificity
100 %
Genes
100 %
Syndactyly type 3 (sequence analysis of GJA1 gene).

By CGC Genetics in Portugal.

GJA1
Specificity
100 %
Genes
100 %
Hypoplastic left heart syndrome (sequence analysis of GJA1 gene).

By CGC Genetics in Portugal.

GJA1
Specificity
100 %
Genes
100 %
Atrioventricular septal defect 3 (sequence analysis of GJA1 gene).

By CGC Genetics in Portugal.

GJA1
Specificity
100 %
Genes
100 %
Craniometaphyseal dysplasia (sequence analysis of GJA1 gene).

By CGC Genetics in Portugal.

GJA1
Specificity
100 %
Genes
100 %
Oculodentodigital dysplasia (sequence analysis of GJA1 gene).

By CGC Genetics in Portugal.

GJA1
Specificity
100 %
Genes
100 %
OCULODENTODIGITAL DYSPLASIA.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium.

GJA1
Specificity
100 %
Genes
100 %
OculoDentoDigital Dysplasia (ODDD) via the GJA1 Gene.

By PreventionGenetics PreventionGenetics in United States.

GJA1
Specificity
100 %
Genes
100 %
Lymphedema Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GJC2, GATA2, FOXC2, PIEZO1, FAT4, SOX18, CCBE1, VEGFC, KIF11, PTPN14, FLT4, GJA1
Specificity
9 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
100 %
Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
8 %
Genes
100 %
Ichthyosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Ichthyosis NGS panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
8 %
Genes
100 %
Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
8 %
Genes
100 %
Ichthyosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Erythrokeratodermias and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR
Specificity
15 %
Genes
100 %
Erythrokeratodermias and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR
Specificity
15 %
Genes
100 %
Erythrokeratodermias and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR
Specificity
15 %
Genes
100 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

FOXL2, RAX, ABCB6, OCRL, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, RAB3GAP1, SIX3, VPS13B , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Congenital heart defects panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ELN, JAG1, RAF1, TAZ, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, MYH7, LDB3, MYBPC3, NODAL, FOXH1, MYH11 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Heterotaxy panel.

By Centogene AG - the Rare Disease Company in Germany.

NODAL, FOXH1, NKX2-5, GJA1, ZIC3, GDF1, LEFTY2, CRELD1, ACVR2B, CFC1
Specificity
10 %
Genes
100 %
Oculodentodigital dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

GJA1
Specificity
100 %
Genes
100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Congenital Heart Defects Panel.

By CeGaT GmbH in Germany.

ELN, FOXC1, PITX2, JAG1, CHD7, MYH7, FLNA, TBX1, SEMA3E, RBM10, NODAL, FOXH1, NOTCH1, ACTC1, NKX2-5, MYH6, TBX5, GJA1, SMAD2, ZIC3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Single gene testing GJA1.

By CeGaT GmbH in Germany.

GJA1
Specificity
100 %
Genes
100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
5 %
Genes
100 %
Skeletal dysplasia with increased bone density Panel.

By CeGaT GmbH in Germany.

ANKH, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, DHCR24, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Cardio-channelopathy-gene-panel.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, ANK2, RYR2 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Cataract.

By Asper Biogene Asper Biogene LLC in Estonia.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIX6, SIL1, MAF, CTDP1, GJA1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Auricular Fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2, KCNE2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Congenital Heart Diseases Panel.

By Health in Code in Spain.

ELN, EYA4, PITX2, JAG1, RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, TTN, MYH7, MYBPC3, FLNA, TBX1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Atrial fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, ZFHX3, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
100 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ELN, EYA4, FOXC1, PITX2, JAG1, NPHP4, RAF1, BRAF, CHD7, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, NF1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Primary lymphedema and Hydrops fetalis.

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

RAF1, GJC2, HRAS, IKBKG, KRAS, NRAS, PTPN11, SOS1, GATA2, HGF, FOXC2, PIEZO1, FAT4, RASA1, SOX18, CCBE1, VEGFC, KIF11, PTPN14, FLT4 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Oculodentodigital dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

GJA1
Specificity
100 %
Genes
100 %
Syndactyly, type III.

By Praxis fuer Humangenetik Wien in Austria.

GJA1
Specificity
100 %
Genes
100 %
Hypoplastic left heart syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

GJA1
Specificity
100 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Hallermann-Streiff syndrome.

By MedGene in Slovakia.

GJA1
Specificity
100 %
Genes
100 %
Hypoplastic left heart syndrome 1.

By MedGene in Slovakia.

GJA1
Specificity
100 %
Genes
100 %
Oculodentodigital dysplasia.

By MedGene in Slovakia.

GJA1
Specificity
100 %
Genes
100 %
Syndactyly, type III.

By MedGene in Slovakia.

GJA1
Specificity
100 %
Genes
100 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae in United States.

INVS, ELN, JAG1, NPHP3, CEP290, TTC8, RAF1, RPGR, CCDC39, BCOR, MKS1, BBS10, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Invitae Congenital Heart Disease Panel.

By Invitae in United States.

ELN, JAG1, RAF1, BCOR, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NSD1, GPC3, TBX1 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Hearing Loss NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
GJA1.

By Fulgent Genetics Fulgent Genetics in United States.

GJA1
Specificity
100 %
Genes
100 %
Ichthyosis Panel.

By Blueprint Genetics in Finland.

ABCA12, ABHD5, ALDH3A2, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC2, GJB3, MBTPS2, EBP, GJA1, CDSN, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Osteopetrosis and Dense Bone Dysplasia Panel.

By Blueprint Genetics in Finland.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, SLC29A3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

ELN, PITX2, JAG1, BCOR, CHD7, DHCR7, HRAS, SOS2, CBL, NSD1, GPC3, ENG, NF1, FLNA, TBX1, ACTB, ACTG1, HOXA1, RBM10, NODAL , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

FOXL2, RAX, PAX6, ABCB6, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Hypoplastic left heart syndrome.

By Bioarray in Spain.

GJA1
Specificity
100 %
Genes
100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
100 %
HYPOPLASTIC LEFT HEART SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GJA1
Specificity
100 %
Genes
100 %
HALLERMANN-STREIFF SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GJA1
Specificity
100 %
Genes
100 %
OCULODENTODIGITAL DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

GJA1
Specificity
100 %
Genes
100 %
Craniometaphyseal Dysplasia , Sequencing GJA1 Gene.

By Reference Laboratory Genetics in Spain.

GJA1
Specificity
100 %
Genes
100 %
Hypoplastic Left Heart Syndrome , Sequencing GJA1 Gene.

By Reference Laboratory Genetics in Spain.

GJA1
Specificity
100 %
Genes
100 %
Craniometaphyseal Dysplasia, Panel Massive Sequencing (NGS) ANKH, GJA1 Genes.

By Reference Laboratory Genetics in Spain.

ANKH, GJA1
Specificity
50 %
Genes
100 %
Erythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes.

By Reference Laboratory Genetics in Spain.

GJB3, GJA1, LOR, GJB4
Specificity
25 %
Genes
100 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

TTR, RET, EYA4, PITX2, DSP, CRYAB, DNM1L, SLC25A3, TSFM, DNAJC19, PHOX2A, TAZ, DMD, DMPK, PTPN11, PHOX2B, FKTN, LMNA, CAV3, TTN , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %

Alternate names

Palmoplantar Keratoderma And Congenital Alopecia 1; Ppkca1 Is also known as ppkca, stevanovic type, keratoderma-hypotrichosis-leukonychia totalis syndrome;autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; ppk-ca, stevanovic type; palmoplantar keratoderma and congenital alopecia, stevanovic type.


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