X-linked Hypohidrotic Ectodermal Dysplasia

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).

Clinical Features

Top most frequent phenotypes and symptoms related to X-linked Hypohidrotic Ectodermal Dysplasia

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever
  • Frontal bossing
  • Respiratory distress
  • Intellectual disability, severe
  • Abnormality of the dentition
  • Short nose

And another 54 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available X-linked Hypohidrotic Ectodermal Dysplasia have a estimated birth prevalence of 0.75 per 100k worldwide.
No data available about the known clinical features onset.

Alternative 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.

Researches and researchers

Doctors, researchs, and experts related to X-linked Hypohidrotic Ectodermal Dysplasia extracted from public data.

X-linked Hypohidrotic Ectodermal Dysplasia Experts map



Current Researchs and researchers

  • HELSINKI — Dr Pekka NIEMINEN

    Investigator of research project

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

      The genetic basis of the development and malformations of teeth and craniofacial tissues


  • PARIS — Pr Christine BODEMER

    Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry - Coordinator of expert centre network - Coordinator of research network

    • Institution/s:
      — Service de dermatologie, CHU Paris - Hôpital Necker-Enfants Malades
      — CHU Paris - Hôpital Necker-Enfants Malades
    • Research area/topic::

      GM: study group on Incontinentia pigmenti and anhidrotic ectodermal dysplasia - part of the Genodermatosis in Mediterranean network


  • ERLANGEN — Pr Holm SCHNEIDER

    Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Director of laboratory - Director of department

    • Institution/s:
      — ZSEER - Zentrum für Seltene Erkrankungen Erlangen
      — Kinder- und Jugendklinik des Universitätsklinikums Erlangen
    • Research area/topic::

      ECP-002e: Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 - DE


  • SFAX — Pr Hamida TURKI

    Coordinator of research network

    • Institution/s:
      — EPS Hédi Chaker
    • Research area/topic::

      GM: study group on Incontinentia pigmenti and anhidrotic ectodermal dysplasia - part of the Genodermatosis in Mediterranean network



Mendelian

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X-linked Hypohidrotic Ectodermal Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EDA Sequencing.

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

EDA
Specificity
100 %
Genes
50 %
EDA.

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

EDA
Specificity
100 %
Genes
50 %
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
20 %
Genes
50 %
EDA. MLPA testing.

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

EDA
Specificity
100 %
Genes
50 %
EDA. Complete sequencing.

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

EDA
Specificity
100 %
Genes
50 %
Hypohidrotic ectodermal dysplasia 1, X-linked (sequence analysis of EDA gene).

By CGC Genetics (Portugal).

EDA
Specificity
100 %
Genes
50 %
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
25 %
Genes
50 %
Hypohidrotic ectodermal dysplasia 1, X-linked (sequence analysis of EDA gene).

By CGC Genetics (Portugal).

EDA
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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