Klinische FragestellungIchthyosen, syndromisch; Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein umfassendes panel für Ichthyosen, syndromisch; Differentialdiagnose mit 35 kuratierten Genen, zumeist auch Leitlinien-kuratiert
ID
IP7119
Anzahl Gene
0
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Keine Gene verlinkt
Infos zur Erkrankung
Synonyme
- Allelic: CK syndrome (NSDHL)
- Allelic: Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
- Allelic: Chondrodysplasia punctata, XLD (EBP)
- Allelic: Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
- Allelic: Lewy body dementia, susceptibility to (GBA)
- Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
- Allelic: Peeling skin syndrome 1 (CDSN)
- Allelic: Proteasome-associated autoinflammatory syndrome 2 (POMP)
- Allelic: Psoriasis 2 (CARD14)
- Allelic: Spinocerebellar ataxia 34 (ELOVL4)
- Allelic: Stargardt disease 3 (ELOVL4)
- Allelic: Xeroderma pigmentosum, group B (ERCC3)
- Allelic: Xeroderma pigmentosum, group D (ERCC2)
- Adermatoglyphia (SMARCAD1)
- Allelic: Kahrizi syndrome (SRD5A3)
- Allelic: Osteogenesis imperfecta, type XIX (MBTPS2)
- Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
- Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratod. + woolly hair (DSC2)
- Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
- Basan syndrome (SMARCAD1)
- CHILD syndrome (NSDHL)
- CHIME syndrome (PIGL)
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (SNAP29)
- Chanarin-Dorfman syndrome (ABHD5)
- Chanarin-Dorfman syndrome (ABHHD5)
- Cole disease (ENPP)
- Congenital disorder of glycosylation, type IIi (COG5)
- Congenital disorder of glycosylation, type IIl (COG6)
- Congenital disorder of glycosylation, type If (MPDU1)
- Congenital disorder of glycosylation, type Im (DOLK)
- Congenital disorder of glycosylation, type Iq (SRD5A3)
- Dermatopathia pigmentosa reticularis (KRT14)
- Ectodermal dysplasia 2, Clouston type (GJB6)
- Epidermolysis bullosa simplex, Dowling-Meara type (KRT14)
- Epidermolysis bullosa simplex, Koebner type (KRT14)
- Epidermolysis bullosa simplex, Weber-Cockayne type (KRT14)
- Epidermolysis bullosa simplex, recessive 1 (KRT14)
- Epidermolysis bullosa, lethal acantholytic (DSP)
- Epidermolytic hyperkeratosis (KRT1)
- Epidermolytic hyperkeratosis (KRT10)
- Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis + hyper IgE (DSG1)
- Erythrokeratodermia variabilis et progressiva 1 (GJB3)
- Erythrokeratodermia variabilis et progressiva 2 (GJB4)
- Erythrokeratodermia variabilis et progressiva 3 (GJA1)
- Erythrokeratodermia variabilis et progressiva 4 (KDSR)
- Gaucher disease, perinatal lethal (GBA)
- Gaucher disease, type I, II, III, IIIC (GBA)
- HELIX syndrome (CLDN10)
- Holocarboxylase synthetase deficiency (HLCS)
- Huriez syndrome (SMARCAD1)
- IFAP syndrome with or without BRESHECK syndrome (MBTPS2)
- Ichthyosis bullosa of Siemens (KRT2)
- Ichthyosis histrix, Curth-Macklin type (KRT1)
- Ichthyosis prematurity syndrome (SLC27A4)
- Ichthyosis vulgaris (FLG)
- Ichthyosis with confetti (KRT10)
- Ichthyosis, XL (STS)
- Ichthyosis, congenital, AR 1 (TGM1)
- Ichthyosis, congenital, AR 10 (PNPLA1)
- Ichthyosis, congenital, AR 11 (ST14)
- Ichthyosis, congenital, AR 12 (CASP14)
- Ichthyosis, congenital, AR 14 (SULT2B1)
- Ichthyosis, congenital, AR 2 (ALOX12B)
- Ichthyosis, congenital, AR 3 (ALOXE3)
- Ichthyosis, congenital, AR 4A, 4B [harlequin] (ABCA12)
- Ichthyosis, congenital, AR 5 (CYP4F22)
- Ichthyosis, congenital, AR 6 (NIPAL4)
- Ichthyosis, congenital, AR 8 (LIPN)
- Ichthyosis, congenital, AR 9 (CERS3)
- Ichthyosis, congenital, Ar 13 (SDR9C7)
- Ichthyosis, cyclic, with epidermolytic hyperkeratosis (KRT1)
- Ichthyosis, cyclic, with epidermolytic hyperkeratosis (KRT10)
- Ichthyosis, lamellar, AD (ASPRV1)
- Ichthyosis, leukocyte vacuoles, alopecia + sclerosing cholangitis (CLDN1)
- Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
- Ichthyotic keratoderma, spasticity, hypomyelination + dysmorphic facies (ELOVL1)
- Keratitis-ichthyosis-deafness syndrome (GJB2)
- Keratitis-ichthyosis-deafness syndrome, AR (AP1B1)
- 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)
- Keratosis palmoplantaris striata I, AD (DSG1)
- Keratosis palmoplantaris striata II (DSP)
- Keratosis palmoplantaris striata III (KRT1)
- MEDNIK syndrome (AP1S1)
- MEND syndrome (EBP)
- Meleda disease (SLURP1)
- Microcephaly, congenital cataract + psoriasiform dermatitis (MSMO1)
- Multiple sulfatase deficiency (SUMF1)
- Naegeli-Franceschetti-Jadassohn syndrome (KRT14)
- Naxos disease (JUP)
- Netherton syndrome (SPINK5)
- Olmsted syndrome 1 (TRPV3)
- Olmsted syndrome, XL (MBTPS2)
- Pachyonychia congenita 1 (KRT16)
- Pachyonychia congenita 2 (KRT17)
- Pachyonychia congenita 3 (KRT6A)
- Pachyonychia congenita 4 (KRT6B)
- Palmoplantar hyperkeratosis and 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 (KRT1)
- Palmoplantar keratoderma, epidermolytic (KRT9)
- Palmoplantar keratoderma, nonepidermolytic (KRT1)
- Palmoplantar keratoderma, nonepidermolytic, focal (KRT16)
- Palmoplantar keratoderma, nonepidermolytic, focal 2 (TRPV3)
- Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (KRT6C)
- Peeling skin syndrome 2 (TGM5)
- Peeling skin syndrome 3 (CHST8)
- Peeling skin syndrome 4 (CSTA)
- Peeling skin syndrome 6 (FLG2)
- Peeling skin with leukonychia, acral punctate keratoses, cheilitis + knuckle pads (CAST)
- Peroxisome biogenesis disorder 9B (PEX7)
- Pityriasis rubra pilaris (CARD14)
- Refsum disease (PHYH)
- Shaheen syndrome (COG6)
- Sjogren-Larsson syndrome (ALH3A2)
- Skin fragility-woolly hair syndrome (DSP)
- Steatocystoma multiplex (KRT17)
- Transaldolase deficiency (TALDO1)
- Trichothiodystrophy 1, photosensitive (ERCC2)
- Trichothiodystrophy 2, photosensitive (ERCC3)
- Trichothiodystrophy 3, photosensitive (GTF2H5)
- Trichothiodystrophy 4, nonphotosensitive (MPLKIP)
- Trichothiodystrophy 5, nonphotosensitive (RNF113A)
- Trichothiodystrophy 6, nonphotosensitive (GTF2E2)
- Tylosis with esophageal cancer (RHBDF2)
- Tyrosinemia, type II (TAT)
- Vohwinkel syndrome with ichthyosis (LORICRIN)
- Weill-Marchesani 4 syndrome, AR (ADAMTS17)
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q80.8
Bioinformatik und klinische Interpretation
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