MCID: MYF007
MIFTS: 32

Myofibromatosis, Infantile, 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Myofibromatosis, Infantile, 1

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Aliases & Descriptions for Myofibromatosis, Infantile, 1:

Name: Myofibromatosis, Infantile, 1 50
Myofibromatosis, Infantile 1 23 68 25
Congenital Generalized Fibromatosis 46 68
Synonyms Myofibromatosis, Juvenile, Fibromatosis, Congenital Generalized, Cgf 23
Infantile Myofibromatosis 66
 
Juvenile Myofibromatosis 68
Myofibromatosis 37
Imf1 68
Cgf 68

Characteristics:

HPO:

62
myofibromatosis, infantile, 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 228550
MeSH37 D018224

Summaries for Myofibromatosis, Infantile, 1

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OMIM:50 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 abnormality of connective tissue and fibroma. An important gene associated with Myofibromatosis, Infantile, 1 is PDGFRB (Platelet Derived Growth Factor Receptor Beta), and among its related pathways are MicroRNAs in cancer and Angiogenesis (CST). Affiliated tissues include skin and bone, and related mouse phenotypes are muscle and cardiovascular system.

UniProtKB/Swiss-Prot:68 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.

Related Diseases for Myofibromatosis, Infantile, 1

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Graphical network of diseases related to Myofibromatosis, Infantile, 1:



Diseases related to myofibromatosis, infantile, 1

Symptoms for Myofibromatosis, Infantile, 1

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Symptoms by clinical synopsis from OMIM:

228550

Clinical features from OMIM:

228550

HPO human phenotypes related to Myofibromatosis, Infantile, 1:

id Description Frequency HPO Source Accession
1 abnormality of connective tissue HP:0003549
2 fibroma HP:0010614

Drugs & Therapeutics for Myofibromatosis, Infantile, 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myofibromatosis, Infantile, 1


Cochrane evidence based reviews: myofibromatosis

Genetic Tests for Myofibromatosis, Infantile, 1

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Genetic tests related to Myofibromatosis, Infantile, 1:

id Genetic test Affiliating Genes
1 Infantile Myofibromatosis 125
2 Myofibromatosis, Infantile 123 PDGFRB

Anatomical Context for Myofibromatosis, Infantile, 1

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MalaCards organs/tissues related to Myofibromatosis, Infantile, 1:

34
Skin, Bone

Animal Models for Myofibromatosis, Infantile, 1 or affiliated genes

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MGI Mouse Phenotypes related to Myofibromatosis, Infantile, 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6ACTC1, NOTCH3, PDGFRB
2MP:00053858.5ACTC1, NOTCH3, PDGFRB
3MP:00028738.2ACTC1, NOTCH3, PDGFRB

Publications for Myofibromatosis, Infantile, 1

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Variations for Myofibromatosis, Infantile, 1

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UniProtKB/Swiss-Prot genetic disease variations for Myofibromatosis, Infantile, 1:

68
id Symbol AA change Variation ID SNP ID
1PDGFRBp.Arg561CysVAR_069925rs367543286
2PDGFRBp.Pro660ThrVAR_069926rs144050370

Clinvar genetic disease variations for Myofibromatosis, Infantile, 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PDGFRBNM_002609.3(PDGFRB): c.1998C> A (p.Asn666Lys)single nucleotide variantLikely pathogenicrs864309711GRCh38Chr 5, 150124275: 150124275
2PDGFRBNM_002609.3(PDGFRB): c.1681C> T (p.Arg561Cys)single nucleotide variantPathogenicrs367543286GRCh37Chr 5, 149505134: 149505134
3PDGFRBNM_002609.3(PDGFRB): c.1978C> A (p.Pro660Thr)single nucleotide variantPathogenicrs144050370GRCh37Chr 5, 149503858: 149503858
4NOTCH3NM_000435.2(NOTCH3): c.4556T> C (p.Leu1519Pro)single nucleotide variantPathogenicrs367543285GRCh37Chr 19, 15285059: 15285059

Expression for genes affiliated with Myofibromatosis, Infantile, 1

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Search GEO for disease gene expression data for Myofibromatosis, Infantile, 1.

Pathways for genes affiliated with Myofibromatosis, Infantile, 1

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Pathways related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0NOTCH3, PDGFRB
2
Show member pathways
9.0NOTCH3, PDGFRB

GO Terms for genes affiliated with Myofibromatosis, Infantile, 1

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Cellular components related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1focal adhesionGO:00059259.3ACTC1, PDGFRB

Biological processes related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cardiac myofibril assemblyGO:00550039.2ACTC1, PDGFRB
2positive regulation of smooth muscle cell proliferationGO:00486619.0NOTCH3, PDGFRB

Sources for Myofibromatosis, Infantile, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet