Details of Disease

General Information of Disease (ID: DISXT8Z7)

Disease Name Infantile myofibromatosis
Synonyms IMS; infantile hemangiopericytoma; myofibromatosis; multicentric myofibromatosis; infantile myofibromatosis
Definition
A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.
Disease Hierarchy
DISDLGYB: Benign perivascular tumor
DISOHT1D: Benign soft tissue neoplasm
DIS8I9FS: Hereditary disorder of connective tissue
DISXT8Z7: Infantile myofibromatosis
Disease Identifiers
MONDO ID
MONDO_0016824
MESH ID
C562978
UMLS CUI
C0432284
MedGen ID
140933
Orphanet ID
2591
SNOMED CT ID
1285183007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NOTCH3 TTVX7IA Supportive Autosomal dominant [1]
PDGFRB TTI7421 Supportive Autosomal dominant [2]
NOTCH3 TTVX7IA Strong GermlineCausalMutation [1]
PDGFRB TTI7421 Strong Genetic Variation [3]
SHCBP1 TTZ9WGL Strong Biomarker [4]
------------------------------------------------------------------------------------
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NOTCH3 OTMVVA7F Supportive Autosomal dominant [1]
PDGFRB OTYSNK9Q Supportive Autosomal dominant [2]
LRIT1 OTNEQPMZ Strong Biomarker [4]
NDRG4 OTJBOTD8 Strong Genetic Variation [5]
------------------------------------------------------------------------------------

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.
2 A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet. 2013 Jun 6;92(6):996-1000. doi: 10.1016/j.ajhg.2013.04.026. Epub 2013 May 23.
3 A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. Am J Med Genet A. 2019 Jul;179(7):1304-1309. doi: 10.1002/ajmg.a.61151. Epub 2019 Apr 19.
4 Monophasic cellular variant of infantile myofibromatosis. An unusual histopathologic pattern in two siblings.Am J Dermatopathol. 1995 Apr;17(2):131-8. doi: 10.1097/00000372-199504000-00004.
5 Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.Eur J Med Genet. 2014 Nov-Dec;57(11-12):643-8. doi: 10.1016/j.ejmg.2014.08.010. Epub 2014 Sep 18.