IllnessPsoriasis, generalised pustular; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Psoriasis, generalised pustular, comprising 2 core/core candidate genes and altogether 13 curated genes according to the clinical signs

PP7776

Number of genes

5 Accredited laboratory test

Examined sequence length

2,7 kb (Core-/Core-canditate-Genes)
5,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CARD14	2223	607211	NM_001257970.1	AD
IL36RN	468	605507	NM_012275.3	AR
AP1S3	465	615781	NM_001039569.2	AD
IL1RN	543	147679	NM_173841.3	n.k.
TRAF3IP2	1695	607043	NM_001164281.3	AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_PP7776

Synonyms

Allelic: Inflammatory bowel disease 1, Crohn disease (NOD2)
Allelic: Pseudo-TORCH syndrome 3 (STAT2)
Allelic: Yao syndrome (NOD2)
Acrodermatitis enteropathica (SLC39A4)
Blau syndrome (NOD2)
Immunodeficiency 44 (STAT2)
Interleukin 1 receptor antagonist deficiency (IL1RN)
Microcephaly, congenital cataract, psoriasiform dermatitis (MSMO1)
Olmsted syndrome 1 (TRPV3)
Palmoplantar keratoderma, nonepidermolytic, focal 2 (TRPV3)
Pityriasis rubra pilaris type-V variant (CARD14)
Psoriasis 14, pustular (IL36RN)
Psoriasis 15, pustular, susceptibility to (AP1S3)
Psoriasis 2 (CARD14)
Psoriasis susceptibility 1 (HLA-C)
Psoriasis susceptibility 13 (TRAF3IP2)
Pyogenic sterile arthritis, pyoderma gangrenosum + acne (PSTPIP1)
Seborrhea-like dermatitis with psoriasiform elements (ZNF750)

Heredity, heredity patterns etc.

AD
AR
n.k.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined