Ectodermal Dysplasia 1, Hypohidrotic, X-linked; Xhed

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.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

Clinical Features

Top most frequent phenotypes and symptoms related to Ectodermal Dysplasia 1, Hypohidrotic, X-linked; Xhed

  • Intellectual disability
  • Pica
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Feeding difficulties
  • Wide nasal bridge
  • Tics
  • Frontal bossing
  • Ventricular septal defect
And another 73 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.


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Ectodermal Dysplasia 1, Hypohidrotic, X-linked; Xhed Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EDA Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

EDA
Specificity
100 %
Genes
50 %
EDA.

By Institute for Human Genetics University Clinic Freiburg in Germany.

EDA
Specificity
100 %
Genes
50 %
TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS.

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

TP63, EDA, EDAR, WNT10A, EDARADD
Specificity
40 %
Genes
100 %
EDA. MLPA testing.

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

EDA
Specificity
100 %
Genes
50 %
EDA. Complete sequencing.

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

EDA
Specificity
100 %
Genes
50 %
Hypohidrotic ectodermal dysplasia 1, X-linked (sequence analysis of EDA gene).

By CGC Genetics in Portugal.

EDA
Specificity
100 %
Genes
50 %
Ectodermal dysplasia 1, hypohidrotic, X-linked (deletion/duplication analysis of genes EDA, EDAR, EDARADD and WNT10A).

By CGC Genetics in Portugal.

EDA, EDAR, WNT10A, EDARADD
Specificity
25 %
Genes
50 %
Hypohidrotic ectodermal dysplasia 1, X-linked (sequence analysis of EDA gene).

By CGC Genetics in Portugal.

EDA
Specificity
100 %
Genes
50 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics in Portugal.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85
Specificity
13 %
Genes
50 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics in Portugal.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85
Specificity
13 %
Genes
50 %
Ectodermal Dysplasia - hypohidrotic X - linked.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

EDA
Specificity
100 %
Genes
50 %
Ectodermal Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EDA, EDAR, WNT10A, EDARADD, KRT85, NECTIN1
Specificity
17 %
Genes
50 %
Ectodermal Dysplasia via EDA Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EDA
Specificity
100 %
Genes
50 %
Tooth Agenesis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AXIN2, EDA, EDAR, WNT10A, EDARADD, MSX1, PAX9, LTBP3
Specificity
13 %
Genes
50 %
Ectodermal dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85, KDF1
Specificity
12 %
Genes
50 %
Ectodermal dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85, KDF1
Specificity
12 %
Genes
50 %
Ectodermal dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85, KDF1
Specificity
12 %
Genes
50 %
Oligodontia - Selective tooth agenesis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

PTH1R, AXIN2, EDA, WNT10A, WNT10B, MSX1, PAX9, LRP6, LTBP3
Specificity
12 %
Genes
50 %
Oligodontia - Selective tooth agenesis NGS panel.

By Connective Tissue Gene Tests in United States.

PTH1R, AXIN2, EDA, WNT10A, WNT10B, MSX1, PAX9, LRP6, LTBP3
Specificity
12 %
Genes
50 %
Oligodontia - Selective tooth agenesis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

PTH1R, AXIN2, EDA, WNT10A, WNT10B, MSX1, PAX9, LRP6, LTBP3
Specificity
12 %
Genes
50 %
Ectodermal dysplasia 1, hypohidrotic, X-linked Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

EDA
Specificity
100 %
Genes
50 %
Ectodermal dysplasia 1, hypohidrotic, X-linked Comprehensive Test.

By Connective Tissue Gene Tests in United States.

EDA
Specificity
100 %
Genes
50 %
Ectodermal dysplasia 1, hypohidrotic, X-linked Sequencing Test.

By Connective Tissue Gene Tests in United States.

EDA
Specificity
100 %
Genes
50 %
Ectodermal dysplasia, hypohidrotic, X-linked.

By Centogene AG - the Rare Disease Company in Germany.

EDA
Specificity
100 %
Genes
50 %
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
4 %
Genes
100 %
Test for Hypohidrotic Ectodermal Dysplasia, X-Linked.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

EDA
Specificity
100 %
Genes
50 %
EDA.

By Innovagenomics Innovagenomics S.L in Spain.

EDA
Specificity
100 %
Genes
50 %
Ectodermal dysplasia, X-linked (ED1).

By Praxis fuer Humangenetik Wien in Austria.

EDA
Specificity
100 %
Genes
50 %
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
2 %
Genes
100 %
Ectodermal dysplasia, X-linked (ED1).

By MedGene in Slovakia.

EDA
Specificity
100 %
Genes
50 %
Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel.

By Invitae in United States.

NFKBIA, EDA, EDAR, WNT10A, EDARADD, MSX1, PAX9, LTBP3
Specificity
13 %
Genes
50 %
Hypohidrotic ectodermal dysplasia, X-linked: EDA gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

EDA
Specificity
100 %
Genes
50 %
Hypohidrotic ectodermal dysplasia, X-linked: EDA gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

EDA
Specificity
100 %
Genes
50 %
Ectodermal dysplasia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GJB6, IKBKG, TP63, CDH3, NFKBIA, EDA, EDAR, WNT10A, EDARADD, MSX1, EDA2R, TRAF6
Specificity
17 %
Genes
100 %
Hypohidrotic ectodermal dysplasia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

EDA, EDAR, EDARADD
Specificity
34 %
Genes
50 %
Hypohidrotic Ectodermal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

EDA, EDAR, EDARADD
Specificity
34 %
Genes
50 %
Ectodermal Dysplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EDA, EDAR, EDARADD
Specificity
34 %
Genes
50 %
EDA.

By Fulgent Genetics Fulgent Genetics in United States.

EDA
Specificity
100 %
Genes
50 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
50 %
Ectodermal Dysplasia Panel.

By Blueprint Genetics in Finland.

BCS1L, DSP, GJB2, GJB6, PORCN, RMRP, ERCC2, WDR35, TP63, CDH3, JUP, EVC, EVC2, IFT122, EDA, MPLKIP, EDAR, WNT10A, EDARADD, HR , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
100 %
X-linked hypohidrotic ectodermal dysplasia.

By Bioarray in Spain.

EDA
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
HYPOHIDROTIC/ANHIDROTIC ECTODERMAL DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

EDA, EDAR, EDARADD
Specificity
34 %
Genes
50 %
X-Linked Hypohidrotic Ectodermal Dysplasia , Sequencing EDA Gene.

By Reference Laboratory Genetics in Spain.

EDA
Specificity
100 %
Genes
50 %
X-Linked Hypohidrotic Ectodermal Dysplasia, Deletions-Duplications (MLPA) EDA Gene.

By Reference Laboratory Genetics in Spain.

EDA
Specificity
100 %
Genes
50 %
Hypohidrotic Ectodermal Dysplasia , Massive Sequencing (NGS) EDA,EDAR and EDARADD Genes.

By Reference Laboratory Genetics in Spain.

EDA, EDAR, EDARADD
Specificity
34 %
Genes
50 %
Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

GJB6, IKBKG, TP63, CDH3, NFKBIA, EDA, EDAR, WNT10A, EDARADD
Specificity
23 %
Genes
100 %
Hypohidrotic X-linked ectodermal dysplasia.

By Labor Dr. Wisplinghoff in Germany.

EDA
Specificity
100 %
Genes
50 %
Anhidrotic Ectodermal Dysplasia-X linked.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

EDA
Specificity
100 %
Genes
50 %
P63-related disorders.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

TP63
Specificity
100 %
Genes
50 %
TP63 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TP63
Specificity
100 %
Genes
50 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, HNF1B, PITX2, MKKS, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, SOX2, FGFR3, AR, ARX, CREBBP, DHCR7, PTPN11, FGFR2, CDKN1C, GPC3, HBA1 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
50 %
TP63.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TP63
Specificity
100 %
Genes
50 %
TP63. Complete sequencing.

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

TP63
Specificity
100 %
Genes
50 %
TP63. Sequencing of the exon 3.

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

TP63
Specificity
100 %
Genes
50 %
TP63. Sequencing of the exons 13 and 14.

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

TP63
Specificity
100 %
Genes
50 %
TP63. Sequencing of the exons 6,7, 8 and 9.

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

TP63
Specificity
100 %
Genes
50 %
TP63. Complete sequencing.

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

TP63
Specificity
100 %
Genes
50 %
Ectodermal dysplasia syndrome (sequence analysis of TP63 gene).

By CGC Genetics in Portugal.

TP63
Specificity
100 %
Genes
50 %
Rapp-Hodgkin syndrome (sequence analysis of TP63 gene).

By CGC Genetics in Portugal.

TP63
Specificity
100 %
Genes
50 %
Ectodermal dysplasia and ectrodactyly (deletion/duplication analysis of TP63 gene).

By CGC Genetics in Portugal.

TP63
Specificity
100 %
Genes
50 %
Ectodermal dysplasia and ectrodactyly (deletion/duplication analysis of TP63 gene).

By CGC Genetics in Portugal.

TP63
Specificity
100 %
Genes
50 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
50 %
TP63-Related Disorders via TP63 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TP63
Specificity
100 %
Genes
50 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
50 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
50 %
Cleft lip, cleft palate and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
50 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
50 %
Cleft lip, cleft palate and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
50 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
50 %
Rapp-Hodgkin syndrome.

By Centogene AG - the Rare Disease Company in Germany.

TP63
Specificity
100 %
Genes
50 %
Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.

By Centogene AG - the Rare Disease Company in Germany.

TP63
Specificity
100 %
Genes
50 %
ADULT syndrome, split hand-foot malformation.

By Centogene AG - the Rare Disease Company in Germany.

TP63
Specificity
100 %
Genes
50 %
Ankyloblepharon-ectodermal defects-cleft lip/palate.

By Centogene AG - the Rare Disease Company in Germany.

TP63
Specificity
100 %
Genes
50 %
Limb-mammary syndrome.

By Centogene AG - the Rare Disease Company in Germany.

TP63
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
Cleft lip/palate panel.

By Centogene AG - the Rare Disease Company in Germany.

TP63, BMP4, IRF6, MSX1, NECTIN1, SUMO1
Specificity
17 %
Genes
50 %
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
50 %
Test for TP63-Related Disorders.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

TP63
Specificity
100 %
Genes
50 %
ADULT syndrome.

By Praxis fuer Humangenetik Wien in Austria.

TP63
Specificity
100 %
Genes
50 %
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.

By Praxis fuer Humangenetik Wien in Austria.

TP63
Specificity
100 %
Genes
50 %
Hay-Wells syndrome.

By Praxis fuer Humangenetik Wien in Austria.

TP63
Specificity
100 %
Genes
50 %
Limb-mammary syndrome.

By Praxis fuer Humangenetik Wien in Austria.

TP63
Specificity
100 %
Genes
50 %
Rapp-Hodgkin syndrome.

By Praxis fuer Humangenetik Wien in Austria.

TP63
Specificity
100 %
Genes
50 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
50 %
ADULT syndrome.

By MedGene in Slovakia.

TP63
Specificity
100 %
Genes
50 %
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.

By MedGene in Slovakia.

TP63
Specificity
100 %
Genes
50 %
Hay-Wells syndrome.

By MedGene in Slovakia.

TP63
Specificity
100 %
Genes
50 %
Limb-mammary syndrome.

By MedGene in Slovakia.

TP63
Specificity
100 %
Genes
50 %
Rapp-Hodgkin syndrome.

By MedGene in Slovakia.

TP63
Specificity
100 %
Genes
50 %
Invitae TP63-Related Disorders Test.

By Invitae in United States.

TP63
Specificity
100 %
Genes
50 %
Ectrodactyly, ectordermal dysplasia and cleft lip / palate syndrome 3 (EEC3), Syndrome: TP63 gene screening (exons 5-8, 13-14).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TP63
Specificity
100 %
Genes
50 %
Hay-Wells syndrome: TP63 gene screening (exons 13, 14).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TP63
Specificity
100 %
Genes
50 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
50 %
ADULT (Acro Dermato Ungual Lacrimal Tooth) Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TP63, CDH3
Specificity
50 %
Genes
50 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
50 %
TP63.

By Fulgent Genetics Fulgent Genetics in United States.

TP63
Specificity
100 %
Genes
50 %
Brachydactyly / Syndactyly Panel.

By Blueprint Genetics in Finland.

RECQL4, DHCR7, CHSY1, SOX9, TP63, BMPR1B, GNAS, MYCN, ESCO2, HOXA13, ROR2, CCNQ, PDE4D, PTDSS1, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
5 %
Genes
50 %
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
50 %
Cleft Lip/Palate and Associated Syndromes Panel.

By Blueprint Genetics in Finland.

COL2A1, KMT2D, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, KDM6A, SATB2, IRF6, FOXE1, GRHL3, MSX1, TGDS, TBX22
Specificity
7 %
Genes
50 %
Limb Malformations Panel.

By Blueprint Genetics in Finland.

BRCA2, RECQL4, DHODH, FANCC, HDAC8, RAD21, SMC3, SMC1A, NIPBL, PALB2, BRIP1, RAD51C, SALL1, DLX5, FANCB, NSDHL, ATR, NOTCH1, TP63, FGF10 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
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
50 %
Ectrodactyly - ectodermal dysplasia - cleft lip/palate syndrome type 3.

By Bioarray in Spain.

TP63
Specificity
100 %
Genes
50 %
Ankyloblepharon - ectodermal defects - cleft lip/palate.

By Bioarray in Spain.

TP63
Specificity
100 %
Genes
50 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
50 %
ECTRODACTYLY - ECTODERMAL DYSPLASIA - CLEFT LIP/ PALATE (EEC) SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TP63
Specificity
100 %
Genes
50 %
ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH (ADULT) SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TP63
Specificity
100 %
Genes
50 %
ANKYLOBLEPHARON - ECTODERMAL DEFECTS - CLEFT LIP / PALATE SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TP63
Specificity
100 %
Genes
50 %
HAY-WELLS SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TP63
Specificity
100 %
Genes
50 %
RAPP-HODGKIN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TP63
Specificity
100 %
Genes
50 %
SPLIT HAND-SPLIT FOOT MALFORMATION.

By Laboratorio de Genetica Clinica SL in Spain.

DLX5, TP63, WNT10B, SEM1
Specificity
25 %
Genes
50 %
ADULT Syndrome , Sequencing TP63 Gene.

By Reference Laboratory Genetics in Spain.

TP63
Specificity
100 %
Genes
50 %
Rapp-Hodgkin Syndrome , Sequencing TP63 Gene.

By Reference Laboratory Genetics in Spain.

TP63
Specificity
100 %
Genes
50 %
Ectodermal Dysplasia -Ectrodactyly -Clefting Syndrome Type 3, Sequencing Exons (5-8, 13-14) TP63 Gene.

By Reference Laboratory Genetics in Spain.

TP63
Specificity
100 %
Genes
50 %
Hay-Wells Syndrome , Sequencing Exons (13,14) TP63 Gene.

By Reference Laboratory Genetics in Spain.

TP63
Specificity
100 %
Genes
50 %
Ectrodactyly and Related Disorders , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

TP63, WNT10B, WNT3, LMBR1
Specificity
25 %
Genes
50 %
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
50 %
Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

RECQL4, CHSY1, SOX9, TP63, BMPR1B, GNAS, MGP, ESCO2, HOXA13, ROR2, TBX15, WNT7A, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
6 %
Genes
50 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
TP63-Related Disorders: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TP63
Specificity
100 %
Genes
50 %

Alternate names

Ectodermal Dysplasia 1, Hypohidrotic, X-linked; Xhed Is also known as ectodermal dysplasia 1, hypohidrotic/hair/tooth type, x-linked;ectd1, xlhed, ectodermal dysplasia, anhidrotic, x-linked;eda, eda1, ectodermal dysplasia, hypohidrotic, 1;hed1, ectodermal dysplasia 1;ed1, christ-siemens-touraine syndrome, cst syndrome;aec syndrome; hay-wells syndrome.



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