IMF1
MCID: MYF007
MIFTS: 43
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Myofibromatosis, Infantile, 1 (IMF1)
Categories:
Bone diseases, Cancer diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Myofibromatosis, Infantile, 1:
Name: Myofibromatosis, Infantile, 1
57
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset at birth or in early childhood tumors may show spontaneous regression visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin solitary disease is more common in males HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Neuronal diseases Skin diseases Bone diseases Muscle diseases |
UniProtKB/Swiss-Prot
:
75
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.
MalaCards based summary : Myofibromatosis, Infantile, 1, also known as congenital generalized fibromatosis, is related to infantile myofibromatosis and myopericytoma. An important gene associated with Myofibromatosis, Infantile, 1 is PDGFRB (Platelet Derived Growth Factor Receptor Beta), and among its related pathways/superpathways are MicroRNAs in cancer and Angiogenesis (CST). Affiliated tissues include skin, bone and spinal cord, and related phenotypes are fibroma and abnormality of connective tissue OMIM : 57 Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules 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 50% of 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 (summary by Arcangeli and Calista, 2006). (228550) Wikipedia : 76 Infantile myofibromatosis (also known as "Congenital generalized fibromatosis," and "Congenital... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:228550Human phenotypes related to Myofibromatosis, Infantile, 1:32
MGI Mouse Phenotypes related to Myofibromatosis, Infantile, 1:46
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Cochrane evidence based reviews: myofibromatosis |
MalaCards organs/tissues related to Myofibromatosis, Infantile, 1:41
Skin,
Bone,
Spinal Cord
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Articles related to Myofibromatosis, Infantile, 1:(show all 25)
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UniProtKB/Swiss-Prot genetic disease variations for Myofibromatosis, Infantile, 1:75
ClinVar genetic disease variations for Myofibromatosis, Infantile, 1:6 (show top 50) (show all 54)
Cosmic variations for Myofibromatosis, Infantile, 1:9
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Search
GEO
for disease gene expression data for Myofibromatosis, Infantile, 1.
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Cellular components related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:
Biological processes related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:
Molecular functions related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:
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