MYOFIBROMATOSIS, INFANTILE, 2

General Information (adopted from Orphanet):

Synonyms, Signs: IMF2
Number of Symptoms 2
OrphanetNr:
OMIM Id: 615293
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(OMIM) Myofibromatosis 1 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Infantile myofibromatosis is a disorder of mesenchymal proliferation characterized by the development of benign tumors in the skin, muscle, bone, and viscera. Soft tissue lesions may regress spontaneously. Visceral lesions are associated with high morbidity and mortality (summary ...
Clinical Description OMIM Martignetti et al. (2013) reported a 2-generation family (IM-9) in which 9 individuals had infantile myofibromatosis. Histopathologic examination of a soft tissue tumor isolated from this family was consistent with the diagnosis. No additional clinical information was provided, ...
Molecular genetics OMIM In affected members of a family with IMF2, Martignetti et al. (2013) identified a heterozygous mutation in the NOTCH3 gene (L1519P; 600276.0012). The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, segregated with the ...