Details of Disease | DrugMAP

General Information of Disease (ID: DIS1RP9A)

Disease Name	Inflammatory skin and bowel disease, neonatal, 2
Synonyms	NISBD2; inflammatory skin and bowel disease, neonatal, 2; inflammatory skin and bowel disease, neonatal, type 2; EGFR neonatal inflammatory skin and bowel disease; neonatal inflammatory skin and bowel disease caused by mutation in EGFR
Definition	Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.
Disease Hierarchy	DISMIIM2: Neonatal inflammatory skin and bowel disease DIS1RP9A: Inflammatory skin and bowel disease, neonatal, 2
Disease Identifiers	MONDO ID MONDO_0014481 UMLS CUI C4015130 OMIM ID 616069 MedGen ID 863567

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
EGFR	TTZ04AF	Strong	Autosomal recessive	[1]
EGFR	TTGKNB4	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EGFR	OTAPLO1S	Strong	Autosomal recessive	[1]
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References

1	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.
2	EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.Mol Genet Genomic Med. 2015 Sep;3(5):452-8. doi: 10.1002/mgg3.156. Epub 2015 Jun 4.