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ErkrankungMorbus Crohn, genetische Prädisposition

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Morbus Crohn mit 4 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
CP5180
Anzahl Gene
4 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
6,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS + SNP

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
IL10537AR und/oder Mult und/oder Ass
IL6639Mult und/oder SMu
NOD23123AD und/oder Mult
STAT32313AD und/oder Mult

Infos zur Erkrankung

Klinischer Kommentar

Keine ORPHA#, da nicht so selten -

Chronisch rezidivierende Darmentzündung, unterteilt in M. Crohn + Colitis ulcerosa. M. Crohn kann alle Teile des Gastrointestinaltrakts betreffen, am häufigsten jedoch das terminale Ileum und den Dickdarm.

 

Synonyme
  • Alias: Crohn disease
  • Alias: Inflammatory bowel disease
  • Alias: Regional enteritis
  • Allelic: Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
  • Allelic: Blau syndrome (NOD2)
  • Allelic: Budd-Chiari syndrome, somatic (JAK2)
  • Allelic: Colchicine resistance (ABCB1)
  • Allelic: Diabetes, susceptibility to (IL6)
  • Allelic: Graft-versus-host disease, protection against (IL10)
  • Allelic: HIV-1, susceptibility to (IL10)
  • Allelic: Hepatitis B virus, susceptibility to (IL10RB)
  • Allelic: Hyper-IgE recurrent infection syndrome (STAT3)
  • Allelic: Immunodeficiency 29, mycobacteriosis (IL12B)
  • Allelic: Immunodeficiency 35 (TYK2)
  • Allelic: Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility (IL6)
  • Allelic: Kaposi sarcoma, susceptibility to (IL6)
  • Allelic: Multiple sclerosis, susceptibility to, 1 (HLA-DRB1)
  • Allelic: Mycobacterium tuberculosis, protection against (IRGM)
  • Allelic: Parkinson disease 8 (LRRK2)
  • Allelic: Psoriasis, protection against (IL23R)
  • Allelic: Rheumatoid arthritis, progression of (IL10)
  • Allelic: Rheumatoid arthritis, susceptibility to (SLC22A4)
  • Allelic: Rheumatoid arthritis, systemic juvenile (IL6)
  • Allelic: Sarcoidosis, susceptibility to, 1 (HLA-DRB1)
  • Allelic: Yao syndrome (NOD2)
  • Carnitine deficiency, systemic primary (SLC22A5)
  • Crohn disease-associated growth failure (IL6)
  • Inflammatory bowel disease 1, Crohn disease (NOD2)
  • Inflammatory bowel disease 13 (ABCB1)
  • Inflammatory bowel disease 17, protection against (IL23R)
  • Inflammatory bowel disease 25, early onset, AR (IL10RB)
  • Inflammatory bowel disease 28, early onset, AR (IL10RA)
  • Inflammatory bowel disease, Crohn disease 10 (ATG16L1)
  • Inflammatory bowel disease, Crohn disease 19 (IRGM)
  • Inflammatory bowel disease, Crohn disease 30 (CARD8)
  • Inflammatory bowel disease, infantile ulcerative colitis 31 (IL37)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder Mult
  • AR und/oder Mult und/oder Ass
  • Mult und/oder SMu
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
K50.0

Bioinformatik und klinische Interpretation

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