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ErkrankungKeratose, Keratoderma, Erythrokeratoderma; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Keratose, Keratoderma, Erythrokeratoderma mit 19 bzw. 35 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
KP9382
Anzahl Gene
32 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,1 kb (Core-/Basis-Gene)
57,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AAGAB621AD
AQP5798AD
ENPP12778AD und/oder AR und/oder Mult
GJA11149AD und/oder AR
GJB2681AD und/oder AR und/oder Dig
GJB3813AD und/oder Dig
JUP2238AD und/oder AR und/oder Dig
KDSR999AR
KRT101755AD und/oder AR
KRT141419AD und/oder AR und/oder Dig
KRT161422AD
KRT91872AD
RHBDF22484AD
RSPO1792AR
SERPINB71143AR
SLURP1312AR
TAT1365AR
TRPV32376AD
ALOX12B2106AR
ALOXE32532AR
CARD142223AD
CAST2253AR
CTSC426AR
DSC22706AD und/oder AR
DSG13150AD und/oder AR
DSP8616AD und/oder AR und/oder Dig
GJB4801AD
GJB6786AD und/oder AR und/oder Dig
KRT11935AD und/oder AR
KRT171299AD
SMARCAD13087AD
SNAP29777AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

 

Synonyme
  • 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: Pachyonychia congenita 1 (KRT16)
  • Allelic: Periodontitis 1, juvenile (CTSC)
  • 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)
  • Ichthyosis with confetti (KRT10)
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis (KRT10)
  • Keratitis-ichthyosis-deafness syndrome (GJB2)
  • Keratoderma, palmoplantar, punctate type IA (AAGAB)
  • Keratoderma, palmoplantar, with deafness (GJB2)
  • Meleda disease (SLURP1)
  • Naegeli-Franceschetti-Jadassohn syndrome (KRT14)
  • Naxos disease (JUP)
  • Olmsted syndrome (TRPV3)
  • Palmoplantar hyperkeratosis + true hermaphroditism (RSPO1)
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin + sex reversal (RSPO1)
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder Mult
  • AD und/oder Dig
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q82.8

Bioinformatik und klinische Interpretation

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