Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectd10b

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}.

Clinical Features

Top most frequent phenotypes and symptoms related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectd10b

  • Depressed nasal bridge
  • Nevus
  • Frontal bossing
  • Fever
  • Hyperkeratosis
  • Hyperhidrosis
  • Sparse hair
  • Everted lower lip vermilion
  • Hypodontia
  • Thick vermilion border
And another 21 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 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectd10b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EDARADD Gene Sequencing.

By GeneDx in United States.

EDARADD
Specificity
100 %
Genes
34 %
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
67 %
EDARADD. Complete sequencing.

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

EDARADD
Specificity
100 %
Genes
34 %
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
50 %
Genes
67 %
Anhidrotic ectodermal dysplasia (sequence analysis of EDARADD gene).

By CGC Genetics in Portugal.

EDARADD
Specificity
100 %
Genes
34 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics in Portugal.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85
Specificity
25 %
Genes
67 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics in Portugal.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85
Specificity
25 %
Genes
67 %
Ectodermal Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EDA, EDAR, WNT10A, EDARADD, KRT85, NECTIN1
Specificity
34 %
Genes
67 %
Ectodermal Dysplasia via EDARADD Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EDARADD
Specificity
100 %
Genes
34 %
Tooth Agenesis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AXIN2, EDA, EDAR, WNT10A, EDARADD, MSX1, PAX9, LTBP3
Specificity
25 %
Genes
67 %
Ectodermal dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85, KDF1
Specificity
23 %
Genes
67 %
Ectodermal dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85, KDF1
Specificity
23 %
Genes
67 %
Ectodermal dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

GJB6, EDA, EDAR, EDARADD, KRT74, MSX1, HOXC13, KRT85, KDF1
Specificity
23 %
Genes
67 %
Ectodermal dysplasia, hypohidrotic AR.

By Centogene AG - the Rare Disease Company in Germany.

EDARADD
Specificity
100 %
Genes
34 %
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
67 %
Test for Hypohidrotic Ectodermal Dysplasia, Autosomal.

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

EDAR, EDARADD
Specificity
100 %
Genes
67 %
Ectodermal dysplasia, hypohidrotic.

By Praxis fuer Humangenetik Wien in Austria.

EDARADD
Specificity
100 %
Genes
34 %
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
67 %
Ectodermal dysplasia, hypohidrotic.

By MedGene in Slovakia.

EDARADD
Specificity
100 %
Genes
34 %
Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel.

By Invitae in United States.

NFKBIA, EDA, EDAR, WNT10A, EDARADD, MSX1, PAX9, LTBP3
Specificity
25 %
Genes
67 %
Hypohidrotic Ectodermal dysplasia: EDARADD gene sequence analysis.

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

EDARADD
Specificity
100 %
Genes
34 %
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
67 %
Hypohidrotic ectodermal dysplasia.

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

EDA, EDAR, EDARADD
Specificity
67 %
Genes
67 %
Hypohidrotic Ectodermal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

EDA, EDAR, EDARADD
Specificity
67 %
Genes
67 %
Ectodermal Dysplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EDA, EDAR, EDARADD
Specificity
67 %
Genes
67 %
EDARADD.

By Fulgent Genetics Fulgent Genetics in United States.

EDARADD
Specificity
100 %
Genes
34 %
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
67 %
Ectodermal Dysplasia via the EDARADD Gene.

By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran.

EDARADD
Specificity
100 %
Genes
34 %
Hypohidrotic autosomal recessive ectodermal dysplasia.

By Bioarray in Spain.

EDARADD
Specificity
100 %
Genes
34 %
Autosomal hypohidrotic ectodermal dysplasia.

By Bioarray in Spain.

EDARADD
Specificity
100 %
Genes
34 %
Ectodermal Dysplasia via the EDARADD Gene.

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

EDARADD
Specificity
100 %
Genes
34 %
HYPOHIDROTIC/ANHIDROTIC ECTODERMAL DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

EDA, EDAR, EDARADD
Specificity
67 %
Genes
67 %
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Type 11B , Sequencing EDARADD Gene.

By Reference Laboratory Genetics in Spain.

EDARADD
Specificity
100 %
Genes
34 %
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Type 11A , Sequencing EDARADD Gene.

By Reference Laboratory Genetics in Spain.

EDARADD
Specificity
100 %
Genes
34 %
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Type 11A , Deletions-Duplications (MLPA) EDARADD Gene.

By Reference Laboratory Genetics in Spain.

EDARADD
Specificity
100 %
Genes
34 %
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Type 11B , Deletions-Duplications (MLPA) EDARADD Gene.

By Reference Laboratory Genetics in Spain.

EDARADD
Specificity
100 %
Genes
34 %
Hypohidrotic Ectodermal Dysplasia , Massive Sequencing (NGS) EDA,EDAR and EDARADD Genes.

By Reference Laboratory Genetics in Spain.

EDA, EDAR, EDARADD
Specificity
67 %
Genes
67 %
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
67 %
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome.

By Labor Dr. Wisplinghoff in Germany.

EDARADD
Specificity
100 %
Genes
34 %
Autosomal dominant hypohidrotic ectodermal dysplasia.

By Labor Dr. Wisplinghoff in Germany.

EDARADD
Specificity
100 %
Genes
34 %
RANBP2 Common Mutations Analysis.

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

RANBP2
Specificity
100 %
Genes
34 %
RANBP2. Complete sequencing.

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

RANBP2
Specificity
100 %
Genes
34 %
Encephalopathy, acute necrotizing (sequence analysis of RANBP2 gene).

By CGC Genetics in Portugal.

RANBP2
Specificity
100 %
Genes
34 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
34 %
RANBP2.

By MGZ Medical Genetics Center in Germany.

RANBP2
Specificity
100 %
Genes
34 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
34 %
Inflammatory epilepsy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

SCN1A, RANBP2
Specificity
50 %
Genes
34 %
Encephalopathy acute necrotizing 1.

By Centogene AG - the Rare Disease Company in Germany.

RANBP2
Specificity
100 %
Genes
34 %
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
34 %
RANBP2.

By Fulgent Genetics Fulgent Genetics in United States.

RANBP2
Specificity
100 %
Genes
34 %
Familial acute necrotizing encephalopathy.

By Bioarray in Spain.

RANBP2
Specificity
100 %
Genes
34 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
34 %
Familial Acute Necrotizing Encephalopathy , Sequencing RANBP2 Gene.

By Reference Laboratory Genetics in Spain.

RANBP2
Specificity
100 %
Genes
34 %
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
34 %
Susceptibility to Infection-Induced Acute Encephalopathy 3: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RANBP2
Specificity
100 %
Genes
34 %
EDAR.

By Institute for Human Genetics University Clinic Freiburg in Germany.

EDAR
Specificity
100 %
Genes
34 %
EDAR Gene Sequencing.

By GeneDx in United States.

EDAR
Specificity
100 %
Genes
34 %
EDAR. Complete sequencing.

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

EDAR
Specificity
100 %
Genes
34 %
Anhidrotic ectodermal dysplasia (sequence analysis of EDAR gene).

By CGC Genetics in Portugal.

EDAR
Specificity
100 %
Genes
34 %
Ectodermal Dysplasia via EDAR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EDAR
Specificity
100 %
Genes
34 %
Ectodermal dysplasia, hypohidrotic AR.

By Centogene AG - the Rare Disease Company in Germany.

EDAR
Specificity
100 %
Genes
34 %
Ectodermal dysplasia, hypohidrotic.

By Praxis fuer Humangenetik Wien in Austria.

EDAR
Specificity
100 %
Genes
34 %
Ectodermal dysplasia, hypohidrotic.

By MedGene in Slovakia.

EDAR
Specificity
100 %
Genes
34 %
Hypohidrotic ectodermal dysplasia: EDAR gene sequence analysis.

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

EDAR
Specificity
100 %
Genes
34 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
34 %
EDAR.

By Fulgent Genetics Fulgent Genetics in United States.

EDAR
Specificity
100 %
Genes
34 %
Hypohidrotic Ectodermal Dysplasia, EDAR gene.

By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran.

EDAR
Specificity
100 %
Genes
34 %
Autosomal hypohidrotic ectodermal dysplasia.

By Bioarray in Spain.

EDAR
Specificity
100 %
Genes
34 %
Hypohidrotic Ectodermal Dysplasia, EDAR gene.

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

EDAR
Specificity
100 %
Genes
34 %
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Type 10B , Sequencing EDAR Gene.

By Reference Laboratory Genetics in Spain.

EDAR
Specificity
100 %
Genes
34 %
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Type 10A , Sequencing EDAR Gene.

By Reference Laboratory Genetics in Spain.

EDAR
Specificity
100 %
Genes
34 %
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Type 10B , Deletions-Duplications (MLPA) EDAR Gene.

By Reference Laboratory Genetics in Spain.

EDAR
Specificity
100 %
Genes
34 %
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Type 10A , Deletions-Duplications (MLPA) EDAR Gene.

By Reference Laboratory Genetics in Spain.

EDAR
Specificity
100 %
Genes
34 %
Autosomal dominant hypohidrotic ectodermal dysplasia.

By Labor Dr. Wisplinghoff in Germany.

EDAR
Specificity
100 %
Genes
34 %
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome.

By Labor Dr. Wisplinghoff in Germany.

EDAR
Specificity
100 %
Genes
34 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
34 %

Alternate names

Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectd10b Is also known as ectodermal dysplasia, hypohidrotic;hed, ectodermal dysplasia, anhidrotic;eda.



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