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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
1 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Core-canditate-Gene)
0,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
GJB2681NM_004004.6AD

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)
Erbgänge, Vererbungsmuster etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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