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.
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
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
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
Search interest in EDA
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 United States.
EDA Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the EDA gene.
More info about this panel Germany.
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.
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 Spain.
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 Spain.
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 Portugal.
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.
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 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 - 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 India.
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 EDA Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the EDA 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.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 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, 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 United Kingdom.
EDA Panel
Spain.
By Innovagenomics Innovagenomics S.L
This panel specifically test the EDA gene.
More info about this panel Spain.
Ectodermal dysplasia, X-linked (ED1) Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the EDA 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, X-linked (ED1) Panel
Slovakia.
By MedGene
This panel specifically test the EDA 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, 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 Spain.
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 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.
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.
EDA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EDA gene.
More info about this panel United States.
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 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.
X-linked hypohidrotic ectodermal dysplasia Panel
Spain.
By Bioarray
This panel specifically test the EDA gene.
More info about this panel Spain.
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 United States.
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 United States.
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.
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 Spain.
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 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.
Hypohidrotic X-linked ectodermal dysplasia Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the EDA gene.
More info about this panel Germany.
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 India.
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