EDA gene related symptoms and diseases

All the information presented here about the EDA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EDA gene

Symptoms // Phenotype % Cases
Anodontia Common - Between 50% and 80% cases
Oligodontia Common - Between 50% and 80% cases
Microdontia Common - Between 50% and 80% cases
Heat intolerance Common - Between 50% and 80% cases
Ectodermal dysplasia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with EDA gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypodontia
  • Hyperhidrosis
  • Hypohidrotic ectodermal dysplasia
  • Not very common - Between 30% and 50% cases

  • Absent nipple
  • Anterior hypopituitarism
  • Absent eyebrow
  • Sparse eyelashes
  • Everted upper lip vermilion

And 61 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to EDA gene

Here you will find a list of rare diseases related to the EDA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA


Alternate names

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed, ectd1, cst syndrome, ed1, christ-siemens-touraine syndrome, eda1, eda, ectodermal dysplasia, anhidrotic, x-linked, ectodermal dysplasia, hypohidrotic, 1, x-linked anhidrotic ectodermal dysplasia, hed1, xlhed, ectodermal dysplasia 1, hypohidrotic/hair/tooth type

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).

Most common symptoms of X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

SOURCES: OMIM ORPHANET

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B


Alternate names

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda, ectodermal dysplasia, hypohidrotic, hed, ectodermal dysplasia, anhidrotic

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 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 (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

Most common symptoms of ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

SOURCES: OMIM

TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1


Alternate names

TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1 Is also known as hypodontia/oligodontia, x-linked, 1

Most common symptoms of TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1

  • Hyperhidrosis
  • Hypodontia
  • Ectodermal dysplasia
  • Oligodontia
  • Anodontia


More info about TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1

SOURCES: OMIM MESH

OLIGODONTIA


Alternate names

OLIGODONTIA Is also known as selective tooth agenesis

Description

Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.

Most common symptoms of OLIGODONTIA

  • Micrognathia
  • Hypoplasia of the maxilla
  • Microdontia
  • Abnormality of the face
  • Oligodontia


More info about OLIGODONTIA

SOURCES: ORPHANET


Potential gene panels for EDA gene

EDA Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the EDA gene.

More info about this panel

EDA Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the EDA gene.

More info about this panel

TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS that also includes the following genes: WNT10A EDARADD TP63 EDAR EDA

More info about this panel

EDA. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the EDA gene.

More info about this panel

EDA. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the EDA gene.

More info about this panel

Hypohidrotic ectodermal dysplasia 1, X-linked (sequence analysis of EDA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EDA gene.

More info about this panel

Ectodermal dysplasia 1, hypohidrotic, X-linked (deletion/duplication analysis of genes EDA, EDAR, EDARADD and WNT10A) Panel

Portugal.

By CGC Genetics Ectodermal dysplasia 1, hypohidrotic, X-linked (deletion/duplication analysis of genes EDA, EDAR, EDARADD and WNT10A) that also includes the following genes: WNT10A EDARADD EDAR EDA

More info about this panel

Hypohidrotic ectodermal dysplasia 1, X-linked (sequence analysis of EDA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EDA gene.

More info about this panel

Ectodermal dysplasia (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Ectodermal dysplasia (NGS panel for 8 genes) that also includes the following genes: EDARADD KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1

More info about this panel

Ectodermal dysplasia (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Ectodermal dysplasia (NGS panel for 8 genes) that also includes the following genes: EDARADD KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1

More info about this panel

Ectodermal Dysplasia - hypohidrotic X - linked Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the EDA gene.

More info about this panel

Ectodermal Dysplasia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ectodermal Dysplasia Sequencing Panel with CNV Detection that also includes the following genes: WNT10A EDARADD EDAR EDA KRT85 NECTIN1

More info about this panel

Ectodermal Dysplasia via EDA Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the EDA gene.

More info about this panel

Tooth Agenesis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Tooth Agenesis Sequencing Panel with CNV Detection that also includes the following genes: WNT10A EDARADD EDAR EDA LTBP3 MSX1 PAX9 AXIN2

More info about this panel

Ectodermal dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Ectodermal dysplasia Comprehensive panel that also includes the following genes: EDARADD KDF1 KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1

More info about this panel

Ectodermal dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Ectodermal dysplasia Deletion / Duplication panel that also includes the following genes: EDARADD KDF1 KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1

More info about this panel

Ectodermal dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Ectodermal dysplasia NGS panel that also includes the following genes: EDARADD KDF1 KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1

More info about this panel

Oligodontia - Selective tooth agenesis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis Comprehensive panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel

Oligodontia - Selective tooth agenesis NGS panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis NGS panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel

Oligodontia - Selective tooth agenesis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis Deletion / Duplication panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel

Ectodermal dysplasia 1, hypohidrotic, X-linked Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the EDA gene.

More info about this panel

Ectodermal dysplasia 1, hypohidrotic, X-linked Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the EDA gene.

More info about this panel

Ectodermal dysplasia 1, hypohidrotic, X-linked Sequencing Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the EDA gene.

More info about this panel

Ectodermal dysplasia, hypohidrotic, X-linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EDA gene.

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

Test for Hypohidrotic Ectodermal Dysplasia, X-Linked Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics

This panel specifically test the EDA gene.

More info about this panel

EDA Panel

Spain.

By Innovagenomics Innovagenomics S.L

This panel specifically test the EDA gene.

More info about this panel

Ectodermal dysplasia, X-linked (ED1) Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the EDA gene.

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Ectodermal dysplasia, X-linked (ED1) Panel

Slovakia.

By MedGene

This panel specifically test the EDA gene.

More info about this panel

Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel Panel

United States.

By Invitae Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel that also includes the following genes: WNT10A EDARADD EDAR EDA LTBP3 MSX1 NFKBIA PAX9

More info about this panel

Hypohidrotic ectodermal dysplasia, X-linked: EDA gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the EDA gene.

More info about this panel

Hypohidrotic ectodermal dysplasia, X-linked: EDA gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the EDA gene.

More info about this panel

Ectodermal dysplasia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ectodermal dysplasia that also includes the following genes: TRAF6 WNT10A EDARADD TP63 CDH3 EDA2R EDAR EDA GJB6 IKBKG

More info about this panel

Hypohidrotic ectodermal dysplasia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypohidrotic ectodermal dysplasia that also includes the following genes: EDARADD EDAR EDA

More info about this panel

Hypohidrotic Ectodermal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hypohidrotic Ectodermal Dysplasia: Sequencing Panel that also includes the following genes: EDARADD EDAR EDA

More info about this panel

Ectodermal Dysplasia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Ectodermal Dysplasia NGS Panel that also includes the following genes: EDARADD EDAR EDA

More info about this panel

EDA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EDA gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

Ectodermal Dysplasia Panel Panel

Finland.

By Blueprint Genetics Ectodermal Dysplasia Panel that also includes the following genes: RMRP BCS1L IFT122 WNT10A EDARADD TP63 MPLKIP CDH3 PORCN EVC2

More info about this panel

X-linked hypohidrotic ectodermal dysplasia Panel

Spain.

By Bioarray

This panel specifically test the EDA gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

HYPOHIDROTIC/ANHIDROTIC ECTODERMAL DYSPLASIA Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPOHIDROTIC/ANHIDROTIC ECTODERMAL DYSPLASIA that also includes the following genes: EDARADD EDAR EDA

More info about this panel

X-Linked Hypohidrotic Ectodermal Dysplasia , Sequencing EDA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EDA gene.

More info about this panel

X-Linked Hypohidrotic Ectodermal Dysplasia, Deletions-Duplications (MLPA) EDA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EDA gene.

More info about this panel

Hypohidrotic Ectodermal Dysplasia , Massive Sequencing (NGS) EDA,EDAR and EDARADD Genes Panel

Spain.

By Reference Laboratory Genetics Hypohidrotic Ectodermal Dysplasia , Massive Sequencing (NGS) EDA,EDAR and EDARADD Genes that also includes the following genes: EDARADD EDAR EDA

More info about this panel

Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: WNT10A EDARADD TP63 CDH3 EDAR EDA GJB6 IKBKG NFKBIA

More info about this panel

Hypohidrotic X-linked ectodermal dysplasia Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the EDA gene.

More info about this panel

Anhidrotic Ectodermal Dysplasia-X linked Panel

India.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics

This panel specifically test the EDA gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SYT14 ICOS SGK1 DCXR NBN TSPAN12

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more