Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

Clinical Features

Phenotypes and symptoms related to Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

  • Alopecia
  • Dry skin
  • Fine hair
  • Hypohidrosis
  • Abnormality of the hair
  • Abnormality of the fingernails
  • Abnormality of dental morphology
  • Abnormal toenail morphology
  • Hypoplasia of teeth
  • Premature loss of primary teeth

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 Recessive Hypohidrotic Ectodermal Dysplasia Is also known as ar-hed, autosomal recessive anhidrotic ectodermal dysplasia.

Researches and researchers

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

Autosomal Recessive 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



Mendelian

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Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EDAR.

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

EDAR
Specificity
100 %
Genes
34 %
EDAR Gene Sequencing.

By GeneDx (United States).

EDAR
Specificity
100 %
Genes
34 %
TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

WNT10A, EDARADD, TP63, EDAR, EDA
Specificity
60 %
Genes
100 %
EDAR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

EDAR
Specificity
100 %
Genes
34 %
Ectodermal dysplasia 1, hypohidrotic, X-linked (deletion/duplication analysis of genes EDA, EDAR, EDARADD and WNT10A).

By CGC Genetics (Portugal).

WNT10A, EDARADD, EDAR, EDA
Specificity
75 %
Genes
100 %
Anhidrotic ectodermal dysplasia (sequence analysis of EDAR gene).

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
25 %
Genes
67 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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