KEGG   DISEASE: Neonatal inflammatory skin and bowel disease
Entry
H02467                      Disease                                
Name
Neonatal inflammatory skin and bowel disease
Description
Neonatal inflammatory skin and bowel disease (NISBD) is a rare autosomal recessive disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. A few gene mutations that cause NISBD have been identified.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H02467  Neonatal inflammatory skin and bowel disease
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H02467  Neonatal inflammatory skin and bowel disease
Gene
(NISBD1) ADAM17 [HSA:6868] [KO:K06059]
(NISBD2) EGFR [HSA:1956] [KO:K04361]
Other DBs
ICD-11: 4A60.Y
ICD-10: D89.8
OMIM: 614328 616069
Reference
  Authors
Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP
  Title
Inflammatory skin and bowel disease linked to ADAM17 deletion.
  Journal
N Engl J Med 365:1502-8 (2011)
DOI:10.1056/NEJMoa1100721
Reference
  Authors
Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, Irwin McLean WH, Simpson MA, Parsons M, McGrath JA
  Title
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
  Journal
J Invest Dermatol 134:2570-2578 (2014)
DOI:10.1038/jid.2014.164
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