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)
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
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
AAGAB | 621 | NM_001271885.2 | AD | |
AQP5 | 798 | NM_001651.4 | AD | |
ENPP1 | 2778 | NM_006208.3 | AD | |
GJA1 | 1149 | NM_000165.5 | AD | |
GJB2 | 681 | NM_004004.6 | AD | |
GJB3 | 813 | NM_024009.3 | AD, AR | |
JUP | 2238 | NM_002230.4 | AR | |
KDSR | 999 | NM_002035.4 | AR | |
KRT10 | 1755 | NM_000421.5 | AD | |
KRT14 | 1419 | NM_000526.5 | AD | |
KRT16 | 1422 | NM_005557.4 | AD | |
KRT9 | 1872 | NM_000226.4 | AD | |
RHBDF2 | 2484 | NM_001005498.4 | AD | |
RSPO1 | 792 | NM_001038633.4 | AR | |
SERPINB7 | 1143 | NM_001040147.3 | AR | |
SLURP1 | 312 | NM_020427.3 | AD, AR | |
TAT | 1365 | NM_000353.3 | AR | |
TRPV3 | 2376 | NM_001258205.2 | AD | |
ALOX12B | 2106 | NM_001139.3 | AR | |
ALOXE3 | 2532 | NM_021628.3 | AR | |
CARD14 | 2223 | NM_001257970.1 | AD | |
CAST | 2253 | NM_001042440.5 | AR | |
CTSC | 426 | NM_001114173.3 | AR | |
DSC2 | 2706 | NM_024422.6 | AR | |
DSG1 | 3150 | NM_001942.4 | AD, AR | |
DSP | 8616 | NM_004415.4 | AD, AR | |
GJB4 | 801 | NM_153212.3 | AD | |
GJB6 | 786 | NM_006783.5 | AD | |
KRT1 | 1935 | NM_006121.4 | AD | |
KRT17 | 1299 | NM_000422.3 | AD, AR | |
MBTPS2 | 1560 | NM_015884.4 | XLR | |
SMARCAD1 | 3087 | NM_001128429.3 | AD | |
SNAP29 | 777 | NM_004782.4 | AR |
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