MCID: MYF007
MIFTS: 31

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 52
Myofibromatosis, Infantile 1 24 70 27
Congenital Generalized Fibromatosis 48 70
Myofibromatosis 39 68
Synonyms Myofibromatosis, Juvenile, Fibromatosis, Congenital Generalized, Cgf 24
 
Peroxisome Biogenesis Disorder, Complementation Group F 68
Infantile Myofibromatosis 68
Juvenile Myofibromatosis 70
Imf1 70
Cgf 70

Characteristics:

HPO:

64
myofibromatosis, infantile, 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 228550
MeSH39 D018224

Summaries for Myofibromatosis, Infantile, 1

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OMIM:52 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 dupuytren contracture dupuytren contracture 1, included, 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 cardiovascular system and muscle.

UniProtKB/Swiss-Prot:70 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 & Phenotypes for Myofibromatosis, Infantile, 1

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Symptoms by clinical synopsis from OMIM:

228550

Clinical features from OMIM:

228550

Human phenotypes related to Myofibromatosis, Infantile, 1:

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of connective tissue64 HP:0003549
2 fibroma64 HP:0010614

MGI Mouse Phenotypes related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.3ACTC1, NOTCH3, PDGFRB
2MP:00053699.2ACTC1, NOTCH3, PDGFRB
3MP:00028738.5ACTC1, NOTCH3, PDGFRB

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 127
2 Myofibromatosis, Infantile 124 PDGFRB

Anatomical Context for Myofibromatosis, Infantile, 1

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

36
Skin, Bone

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:

70
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)SNVLikely pathogenicrs864309711GRCh38Chr 5, 150124275: 150124275
2PDGFRBNM_002609.3(PDGFRB): c.1681C> T (p.Arg561Cys)SNVPathogenicrs367543286GRCh37Chr 5, 149505134: 149505134
3PDGFRBNM_002609.3(PDGFRB): c.1978C> A (p.Pro660Thr)SNVPathogenicrs144050370GRCh37Chr 5, 149503858: 149503858
4NOTCH3NM_000435.2(NOTCH3): c.4556T> C (p.Leu1519Pro)SNVPathogenicrs367543285GRCh37Chr 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:00550039.8ACTC1, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet