Autosomal Dominant Hypohidrotic Ectodermal Dysplasia

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Hypohidrotic Ectodermal Dysplasia

  • Abnormality of the dentition
  • Prominent forehead
  • Hypotrichosis
  • Abnormality of skin pigmentation
  • Thick vermilion border
  • Hypodontia
  • Eczema
  • Depressed nasal ridge
  • Thin skin
  • Hypohidrosis

And another 5 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Is also known as autosomal dominant anhidrotic ectodermal dysplasia, ad-hed.

Researches and researchers

Doctors, researchs, and experts related to Autosomal Dominant Hypohidrotic Ectodermal Dysplasia extracted from public data.

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Experts map



Current Researchs and researchers

  • HELSINKI — Pr Irma THESLEFF

    Investigator of research project

    • Institution/s:
      — Biocenter 1, University of Helsinki
    • Research area/topic::

      Genetic basis in mouse models of the development of teeth and other ectodermal appendages and pathogenesis of their congenital defects


Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ectodermal dysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

EDARADD, KDF1, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
34 %
Genes
75 %
Ectodermal dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

EDARADD, KDF1, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
34 %
Genes
75 %
Ectodermal dysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

EDARADD, KDF1, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
34 %
Genes
75 %
KDF1.

By Fulgent Genetics Fulgent Genetics (United States).

KDF1
Specificity
100 %
Genes
25 %
Ectodermal dysplasia.

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

TRAF6, WNT10A, EDARADD, TP63, CDH3, EDA2R, EDAR, EDA, GJB6, IKBKG, MSX1, NFKBIA
Specificity
25 %
Genes
75 %
TRAF6.

By Fulgent Genetics Fulgent Genetics (United States).

TRAF6
Specificity
100 %
Genes
25 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
25 %
EDAR.

By Institute for Human Genetics University Clinic Freiburg (Germany).

EDAR
Specificity
100 %
Genes
25 %

You can get up to 56 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

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