Details of Disease | DrugMAP

General Information of Disease (ID: DISGZ327)

Disease Name	Myofibromatosis, infantile, 2
Synonyms	IMF2; NOTCH3 myofibromatosis; myofibromatosis, infantile, 2; myofibromatosis, infantile, type 2; myofibromatosis caused by mutation in NOTCH3; myofibromatosis, infantile 2
Definition	Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.
Disease Hierarchy	DISXT8Z7: Infantile myofibromatosis DISGZ327: Myofibromatosis, infantile, 2
Disease Identifiers	MONDO ID MONDO_0014122 UMLS CUI C3809084 OMIM ID 615293 MedGen ID 815414

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
NOTCH3	TTVX7IA	Limited	Autosomal dominant	[1]
NOTCH3	TTVX7IA	Limited	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NOTCH3	OTMVVA7F	Limited	Autosomal dominant	[1]
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References

1	Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet. 2013 Jun 6;92(6):1001-7. doi: 10.1016/j.ajhg.2013.04.024. Epub 2013 May 23.