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.
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
Search interest in EDAR
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 Germany.
EDAR Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the EDAR gene.
More info about this panel United States.
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 Spain.
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 Spain.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 United Kingdom.
Ectodermal dysplasia, hypohidrotic Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the EDAR gene.
More info about this panel Austria.
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 Spain.
Ectodermal dysplasia, hypohidrotic Panel
Slovakia.
By MedGene
This panel specifically test the EDAR gene.
More info about this panel Slovakia.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
EDAR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EDAR gene.
More info about this panel United States.
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 Finland.
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 Iran.
Autosomal hypohidrotic ectodermal dysplasia Panel
Spain.
By Bioarray
This panel specifically test the EDAR gene.
More info about this panel Spain.
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 Iran.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
Autosomal dominant hypohidrotic ectodermal dysplasia Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the EDAR gene.
More info about this panel Germany.
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the EDAR gene.
More info about this panel Germany.
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 Canada.
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