Details of Disease

General Information of Disease (ID: DISLZ6AP)

Disease Name Inflammatory skin and bowel disease, neonatal, 1
Synonyms
NISBD1; ADAM17 neonatal inflammatory skin and bowel disease; inflammatory skin and bowel disease, neonatal, type 1; neonatal inflammatory skin and bowel disease caused by mutation in ADAM17; inflammatory skin and bowel disease, neonatal, 1
Definition Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.
Disease Hierarchy
DISMIIM2: Neonatal inflammatory skin and bowel disease
DISLZ6AP: Inflammatory skin and bowel disease, neonatal, 1
Disease Identifiers
MONDO ID
MONDO_0013693
UMLS CUI
C3280501
OMIM ID
614328
MedGen ID
482131

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADAM17 TT6AZXG moderate Biomarker [1]
ADAM17 TT6AZXG Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADAM17 OTTM6KRB Strong Autosomal recessive [2]
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References

1 Inflammatory bowel disease and ADAM17 deletion.N Engl J Med. 2012 Jan 12;366(2):190; author reply 190. doi: 10.1056/NEJMc1113859.
2 Critical role of the disintegrin metalloprotease ADAM17 for intestinal inflammation and regeneration in mice. J Exp Med. 2010 Aug 2;207(8):1617-24. doi: 10.1084/jem.20092366. Epub 2010 Jul 5.