Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

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

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 %

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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