MCID: MYF007
MIFTS: 27

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 49
Myofibromatosis, Infantile 1 22 67 24
Congenital Generalized Fibromatosis 45 67
Synonyms Myofibromatosis, Juvenile, Fibromatosis, Congenital Generalized, Cgf 22
Peroxisome Biogenesis Disorder, Complementation Group F 65
 
Infantile Myofibromatosis 65
Juvenile Myofibromatosis 67
Imf1 67
Cgf 67

Characteristics:

HPO:

61
myofibromatosis, infantile, 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 228550
MeSH36 D018224
UMLS65 C0432284, C3539010

Summaries for Myofibromatosis, Infantile, 1

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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 infantile myofibromatosis, 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 and bone.

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.

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 fibroma HP:0010614
2 abnormality of connective tissue HP:0003549

Drugs & Therapeutics for Myofibromatosis, Infantile, 1

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Interventional clinical trials:

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

Genetic Tests for Myofibromatosis, Infantile, 1

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Genetic tests related to Myofibromatosis, Infantile, 1:

id Genetic test Affiliating Genes
1 Myofibromatosis, Infantile 122 PDGFRB

Anatomical Context for Myofibromatosis, Infantile, 1

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

33
Skin, Bone

Animal Models for Myofibromatosis, Infantile, 1 or affiliated genes

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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:

67
id Symbol AA change Variation ID SNP ID
1PDGFRBp.Arg561CysVAR_069925
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> Asingle 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
19.1NOTCH3, PDGFRB

GO Terms for genes affiliated with Myofibromatosis, Infantile, 1

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Sources for Myofibromatosis, Infantile, 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet