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

IllnessKeratosis, keratoderma, erythrokeratoderma; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Keratosis, keratoderma, erythrokeratoderma comprising 19 core candidate genes and altogether 40 curated genes according to the clinical signs

ID
KP9382
Number of genes
33 Accredited laboratory test
Examined sequence length
25,1 kb (Core-/Core-canditate-Genes)
59,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AAGAB621NM_001271885.2AD
AQP5798NM_001651.4AD
ENPP12778NM_006208.3AD
GJA11149NM_000165.5AD
GJB2681NM_004004.6AD
GJB3813NM_024009.3AD, AR
JUP2238NM_002230.4AR
KDSR999NM_002035.4AR
KRT101755NM_000421.5AD
KRT141419NM_000526.5AD
KRT161422NM_005557.4AD
KRT91872NM_000226.4AD
RHBDF22484NM_001005498.4AD
RSPO1792NM_001038633.4AR
SERPINB71143NM_001040147.3AR
SLURP1312NM_020427.3AD, AR
TAT1365NM_000353.3AR
TRPV32376NM_001258205.2AD
ALOX12B2106NM_001139.3AR
ALOXE32532NM_021628.3AR
CARD142223NM_001257970.1AD
CAST2253NM_001042440.5AR
CTSC426NM_001114173.3AR
DSC22706NM_024422.6AR
DSG13150NM_001942.4AD, AR
DSP8616NM_004415.4AD, AR
GJB4801NM_153212.3AD
GJB6786NM_006783.5AD
KRT11935NM_006121.4AD
KRT171299NM_000422.3AD, AR
MBTPS21560NM_015884.4XLR
SMARCAD13087NM_001128429.3AD
SNAP29777NM_004782.4AR

Informations about the disease

Clinical Comment

Group of diseases

 

Synonyms
  • Allelic: Arrhythmogenic right ventricular dysplasia 12 (JUP)
  • Allelic: Deafness, digenic, GJB2/GJB3 (GJB3)
  • Allelic: Epidermolysis bullosa simplex, Dowling-Meara type (KRT14)
  • Allelic: Epidermolysis bullosa simplex, Koebner type (KRT14)
  • Allelic: Epidermolysis bullosa simplex, Weber-Cockayne type (KRT14)
  • Allelic: Epidermolysis bullosa simplex, recessive 1 (KRT14)
  • Allelic: Nephrotic syndrome, type 16 (KANK2)
  • Allelic: Osteogenesis imperfecta, type XIX (MBTPS2)
  • Allelic: Pachyonychia congenita 1 (KRT16)
  • Allelic: Periodontitis 1, juvenile (CTSC)
  • Allelic: Proteasome-associated autoinflammatory syndrome 2 (POMP)
  • Bart-Pumphrey syndrome (GJB2)
  • Cole disease (ENPP1)
  • Dermatopathia pigmentosa reticularis (KRT14)
  • Epidermolytic hyperkeratosis (KRT10)
  • Erythrokeratodermia variabilis et progressiva 1 (GJB3)
  • Erythrokeratodermia variabilis et progressiva 3 (GJA1)
  • Erythrokeratodermia variabilis et progressiva 4 (KDSR)
  • Haim-Munk syndrome (CTSC)
  • Hystrix-like ichthyosis with deafness (GJB2)
  • IFAP syndrome with or without BRESHECK syndrome (MBTPS2) 3
  • Ichthyosis with confetti (KRT10)
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis (KRT10)
  • Inflammatory skin + bowel disease, neonatal, 1 (ADAM17)
  • Keratitis-ichthyosis-deafness syndrome (GJB2)
  • Keratoderma, palmoplantar, punctate type IA (AAGAB)
  • Keratoderma, palmoplantar, with deafness (GJB2)
  • Keratosis follicularis spinulosa decalvans, XL (MBTPS2)
  • Keratosis linearis with ichthyosis congenita + sclerosing keratoderma (POMP)
  • Meleda disease (SLURP1)
  • Naegeli-Franceschetti-Jadassohn syndrome (KRT14)
  • Naxos disease (JUP)
  • Olmsted syndrome (TRPV3)
  • Olmsted syndrome, XL (MBTPS2)
  • Palmoplantar hyperkeratosis + true hermaphroditism (RSPO1)
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin + sex reversal (RSPO1)
  • Palmoplantar keratoderma and woolly hair (KANK2)
  • Palmoplantar keratoderma with congenital alopecia (GJA1)
  • Palmoplantar keratoderma, Bothnian type (AQP5)
  • Palmoplantar keratoderma, Nagashima type (SERPINB7)
  • Palmoplantar keratoderma, epidermolytic (KRT9)
  • Palmoplantar keratoderma, nonepidermolytic, focal (KRT16)
  • Palmoplantar keratoderma, nonepidermolytic, focal 2 (TRPV3)
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (KRT6C)
  • Papillon-Lefevre syndrome (CTSC)
  • Tylosis with esophageal cancer (RHBDF2)
  • Tyrosinemia, type II (TAT)
  • Vohwinkel syndrome (GJB2)
  • Vohwinkel syndrome with ichthyosis (LORICRIN)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined