Klinische FragestellungMorbus 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-/Core-canditate-Gene)
6,7 kb (Erweitertes Panel: inkl. additional genes)
6,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS + SNP
[Sanger]
Genpanel
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
- AR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
K50.0
Bioinformatik und klinische Interpretation
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