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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPachyonychia congenita, differential diagnosis

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Summary

Short information

A curated panel containing 5 core candidate genes and altogether 9 genes for the comprehensive analysis of the genetically caused forms of Pachyonychia congenita

ID
PP1928
Number of genes
3 Accredited laboratory test
Examined sequence length
2,8 kb (Core-/Core-canditate-Genes)
3,5 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
KRT161422NM_005557.4AD
KRT171299NM_000422.3AD
USB1744NM_001195302.2AR

Informations about the disease

Clinical Comment

Genodermatosis with painful palmoplantar keratoderma, thickened nails, cysts, whitish oral mucosa

 

Synonyms
  • Alias: Dystrophic nails
  • Allelic: Deafness, AD 3B (GJB6)
  • Allelic: Deafness, AR 1B (GJB6)
  • Allelic: Deafness, Dig GJB2/GJB6 (GJB6)
  • Allelic: Palmoplantar keratoderma, nonepidermolytic, focal (KRT16)
  • Allelic: Steatocystoma multiplex (KRT17)
  • Ectodermal dysplasia 2, Clouston type (GJB6)
  • Keratoderma, palmoplantar, punctate type IA (AAGAB)
  • Nail disorder, nonsyndromic congenital, 1 (FZD6)
  • Pachyonychia congenita 1; Jadassohn-Lewandowsky syndrome (KRT16)
  • Pachyonychia congenita 2 (KRT17)
  • Pachyonychia congenita 3 (KRT6A)
  • Pachyonychia congenita 4 (KRT6B)
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (KRT6C)
  • Poikiloderma with neutropenia (USB1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined