Myofibromatosis, Infantile, 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cancer diseases
Aliases & Descriptions for Myofibromatosis, Infantile, 1:
myofibromatosis, infantile, 1:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Neuronal diseases, Skin diseases
OMIM:49 Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated... (228550) more...
MalaCards based summary: Myofibromatosis, Infantile, 1, also known as myofibromatosis, infantile 1, is related to peroxisome biogenesis disorder 5a and fibromatosis, and has symptoms including fibromaand abnormality of connective tissue. An important gene associated with Myofibromatosis, Infantile, 1 is PDGFRB (Platelet Derived Growth Factor Receptor Beta), and among its related pathways is MicroRNAs in cancer. Affiliated tissues include skin, bone and prostate.
UniProtKB/Swiss-Prot:67 Myofibromatosis, infantile 1: A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality.
Diseases in the Infantile Myofibromatosis family:
Diseases related to Myofibromatosis, Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:(show all 12)
Graphical network of diseases related to Myofibromatosis, Infantile, 1:
MalaCards organs/tissues related to Myofibromatosis, Infantile, 1:33
Skin, Bone, Prostate, Lung, Temporal lobe
UniProtKB/Swiss-Prot genetic disease variations for Myofibromatosis, Infantile, 1:67
Clinvar genetic disease variations for Myofibromatosis, Infantile, 1:5
Search GEO for disease gene expression data for Myofibromatosis, Infantile, 1.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet