Details of Disease | DrugMAP

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.