Details of Disease | DrugMAP

General Information of Disease (ID: DISMIIM2)

Disease Name	Neonatal inflammatory skin and bowel disease
Synonyms	inflammatory skin and bowel disease, neonatal
Definition	Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.
Disease Hierarchy	DISIDQ39: Epidermal disease DISCMCGL: Autoinflammatory syndrome DIS8I9FS: Hereditary disorder of connective tissue DISGN23E: Inflammatory bowel disease DISSCALK: Hereditary skin disorder DISMIIM2: Neonatal inflammatory skin and bowel disease
Disease Identifiers	MONDO ID MONDO_0017411 UMLS CUI C4751120 MedGen ID 1648296 Orphanet ID 294023 SNOMED CT ID 773662009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADAM17	TT6AZXG	Supportive	Autosomal recessive	[1]
EGFR	TTZ04AF	Supportive	Autosomal recessive	[2]
ADAM17	TT6AZXG	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAM17	OTTM6KRB	Supportive	Autosomal recessive	[1]
EGFR	OTAPLO1S	Supportive	Autosomal recessive	[2]
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References

1	Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J Med. 2011 Oct 20;365(16):1502-8. doi: 10.1056/NEJMoa1100721.
2	Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. J Invest Dermatol. 2014 Oct;134(10):2570-2578. doi: 10.1038/jid.2014.164. Epub 2014 Apr 1.