EDAR gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to EDAR gene

Symptoms // Phenotype % Cases
Hypohidrosis Common - Between 50% and 80% cases
Hypotrichosis Common - Between 50% and 80% cases
Thick vermilion border Common - Between 50% and 80% cases
Hypodontia Common - Between 50% and 80% cases
Thin skin Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with EDAR gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hyperhidrosis
  • Anodontia
  • Sparse body hair
  • Depressed nasal ridge
  • Premature loss of primary teeth
  • Abnormality of dental morphology
  • Sparse hair
  • Hypohidrotic ectodermal dysplasia

And 46 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to EDAR gene

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


ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A


Alternate names

ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A Is also known as hed, ectodermal dysplasia, hypohidrotic, autosomal dominant

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 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A

  • Hyperhidrosis
  • Sparse hair
  • Hypotrichosis
  • Dry skin
  • Thick vermilion border


More info about ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A

SOURCES: OMIM

AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA


Alternate names

AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as ar-hed, autosomal recessive anhidrotic ectodermal dysplasia

Most common symptoms of AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA

  • Alopecia
  • Dry skin
  • Fine hair
  • Hypohidrosis
  • Abnormality of the hair


More info about AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA

SOURCES: 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

HAIR MORPHOLOGY 1; HRM1


Alternate names

HAIR MORPHOLOGY 1; HRM1 Is also known as hair thickness, variation in


More info about HAIR MORPHOLOGY 1; HRM1

SOURCES: OMIM

AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA


Alternate names

AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as autosomal dominant anhidrotic ectodermal dysplasia, ad-hed

Most common symptoms of AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA

  • Abnormality of the dentition
  • Prominent forehead
  • Hypotrichosis
  • Abnormality of skin pigmentation
  • Thick vermilion border


More info about AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA

SOURCES: ORPHANET


Potential gene panels for EDAR gene

EDAR Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the EDAR gene.

More info about this panel

EDAR Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the EDAR 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

EDAR. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the EDAR 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

Anhidrotic ectodermal dysplasia (sequence analysis of EDAR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EDAR 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 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 EDAR Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the EDAR 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

Ectodermal dysplasia, hypohidrotic AR Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EDAR 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, Autosomal Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics Test for Hypohidrotic Ectodermal Dysplasia, Autosomal that also includes the following genes: EDARADD EDAR

More info about this panel

Ectodermal dysplasia, hypohidrotic Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the EDAR 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, hypohidrotic Panel

Slovakia.

By MedGene

This panel specifically test the EDAR 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: EDAR gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the EDAR 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

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

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

EDAR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EDAR gene.

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

Hypohidrotic Ectodermal Dysplasia, EDAR gene Panel

Iran.

By Genomic Research Center Shahid Beheshti University of Medical Sciences

This panel specifically test the EDAR gene.

More info about this panel

Autosomal hypohidrotic ectodermal dysplasia Panel

Spain.

By Bioarray

This panel specifically test the EDAR gene.

More info about this panel

Hypohidrotic Ectodermal Dysplasia, EDAR gene Panel

Iran.

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences

This panel specifically test the EDAR gene.

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

Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Type 10B , Sequencing EDAR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EDAR gene.

More info about this panel

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Type 10A , Sequencing EDAR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EDAR gene.

More info about this panel

Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Type 10B , Deletions-Duplications (MLPA) EDAR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EDAR gene.

More info about this panel

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Type 10A , Deletions-Duplications (MLPA) EDAR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EDAR 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

Autosomal dominant hypohidrotic ectodermal dysplasia Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the EDAR gene.

More info about this panel

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the EDAR gene.

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel


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