English
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)
57,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| AAGAB | 621 | AD | |
| AQP5 | 798 | AD | |
| ENPP1 | 2778 | AD und/oder AR und/oder Mult | |
| GJA1 | 1149 | AD und/oder AR | |
| GJB2 | 681 | AD und/oder AR und/oder Dig | |
| GJB3 | 813 | AD und/oder Dig | |
| JUP | 2238 | AD und/oder AR und/oder Dig | |
| KDSR | 999 | AR | |
| KRT10 | 1755 | AD und/oder AR | |
| KRT14 | 1419 | AD und/oder AR und/oder Dig | |
| KRT16 | 1422 | AD | |
| KRT9 | 1872 | AD | |
| RHBDF2 | 2484 | AD | |
| RSPO1 | 792 | AR | |
| SERPINB7 | 1143 | AR | |
| SLURP1 | 312 | AR | |
| TAT | 1365 | AR | |
| TRPV3 | 2376 | AD | |
| ALOX12B | 2106 | AR | |
| ALOXE3 | 2532 | AR | |
| CARD14 | 2223 | AD | |
| CAST | 2253 | AR | |
| CTSC | 426 | AR | |
| DSC2 | 2706 | AD und/oder AR | |
| DSG1 | 3150 | AD und/oder AR | |
| DSP | 8616 | AD und/oder AR und/oder Dig | |
| GJB4 | 801 | AD | |
| GJB6 | 786 | AD und/oder AR und/oder Dig | |
| KRT1 | 1935 | AD und/oder AR | |
| KRT17 | 1299 | AD | |
| SMARCAD1 | 3087 | AD | |
| SNAP29 | 777 | AR |
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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