©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessEctodermal dysplasia, hypohydrotic; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for ectodermal dysplasia, hypoydrotic comprising 1 guideline-curated gene, 6 additional core candidate genes as well as altogether 14 curated genes according to the clinical signs

ID
EP0261
Number of genes
7 Accredited laboratory test
Examined sequence length
7,4 kb (Core-/Core-canditate-Genes)
8,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
EDA1176NM_001399.5XLR
EDAR1347NM_022336.4AD, AR
EDARADD648NM_145861.4AD, AR
NFKBIA954NM_020529.3AD
TSPEAR2010NM_144991.3AR
WNT10A1254NM_025216.3AR
GJB2681NM_004004.6AD

Informations about the disease

Clinical Comment

illness_ClinicalComment_EP0261

 

Synonyms
  • Alias: Hypo-/anhidrotic ectodermal dysplasia: hypotrichosis, an-/hypodontia, an-/hypohidrosis
  • Alias: XLR hypohidrotic ectodermal dysplasia [Christ-Siemens-Touraine syndrome] (EDA)
  • Allelic: Amelogenesis imperfecta, type IV (DLX3)
  • Allelic: Bart-Pumphrey syndrome (GJB2)
  • Allelic: Deafness, AD 1B (GJB6)
  • Allelic: Deafness, AD 3A (GJB2)
  • Allelic: Deafness, AD 3B (GJB6)
  • Allelic: Deafness, AR 1A (GJB2)
  • Allelic: Deafness, AR 98 (TSPEAR)
  • Allelic: Deafness, digenic GJB2/GJB6 (GJB6)
  • Allelic: Hypotrichosis 3 (KRT74)
  • Allelic: Orofacial cleft 5 (MSX1)
  • Allelic: Tooth agenesis, selective, 1, +/- orofacial cleft (MSX1)
  • Allelic: Woolly hair, AD (KRT74)
  • Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
  • Ectodermal dysplasia 1, hypohidrotic, XLR (EDA)
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, AR (EDAR)
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, AD (EDARADD)
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, AR (EDARADD)
  • Ectodermal dysplasia 14, hair/tooth type with/-out hypohidrosis
  • Ectodermal dysplasia 2, Clouston type (GJB6)
  • Ectodermal dysplasia 3, Witkop type (MSX1)
  • Ectodermal dysplasia 4, hair/nail type (KRT85)
  • Ectodermal dysplasia 7, hair/nail type (KRT74)
  • Ectodermal dysplasia 9, hair/nail type (HOXC13)
  • Ectodermal dysplasia and immunodeficiency 2 (NFKBIA)
  • Ectodermal dysplasia, hypohydrotic, with immunodeficiency 2 (NFKBIA)
  • Hystrix-like ichthyosis with deafness (GJB2)
  • Immunodeficiency 33 (IKBKG)
  • Incontinentia pigmenti (IKBKG)
  • Keratitis-ichthyosis-deafness syndrome (GJB2)
  • Keratoderma, palmoplantar, with deafness (GJB2)
  • Odontoonychodermal dysplasia (WNT10A)
  • Schopf-Schulz-Passarge syndrome (WNT10A)
  • Tooth agenesis, selective, 4 (WNT10A)
  • Tooth agenesis, selective, XL 1 (EDA)
  • Trichodontoosseous syndrome (DLX3)
  • Vohwinkel syndrome (GJB2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined