MCID: MYF007
MIFTS: 31

Myofibromatosis, Infantile, 1

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

Aliases & Classifications for Myofibromatosis, Infantile, 1

MalaCards integrated aliases for Myofibromatosis, Infantile, 1:

Name: Myofibromatosis, Infantile, 1 54
Congenital Generalized Fibromatosis 50 71
Myofibromatosis, Infantile 1 24 71
Myofibromatosis 42 69
Synonyms Myofibromatosis, Juvenile, Fibromatosis, Congenital Generalized, Cgf 24
Infantile Myofibromatosis 1 29
Infantile Myofibromatosis 69
Juvenile Myofibromatosis 71
Imf1 71
Cgf 71

Characteristics:

OMIM:

54
Miscellaneous:
solitary disease is more common in males
visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin
tumors may show spontaneous regression
onset at birth or in early childhood

Inheritance:
autosomal dominant


HPO:

32
myofibromatosis, infantile, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 228550
MeSH 42 D018224

Summaries for Myofibromatosis, Infantile, 1

UniProtKB/Swiss-Prot : 71 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 peroxisome biogenesis disorder 5a and myofibromatosis, infantile 2, 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/superpathways are MicroRNAs in cancer and Angiogenesis (CST). Affiliated tissues include skin and bone, and related phenotypes are muscle and normal

OMIM : 54
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)

Related Diseases for Myofibromatosis, Infantile, 1

Graphical network of the top 20 diseases related to Myofibromatosis, Infantile, 1:



Diseases related to Myofibromatosis, Infantile, 1

Symptoms & Phenotypes for Myofibromatosis, Infantile, 1

Symptoms via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology
benign soft tissue developmental anomalies
small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk
myofibromatosis affecting skin, muscle, bone, and viscera


Clinical features from OMIM:

228550

Human phenotypes related to Myofibromatosis, Infantile, 1:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of connective tissue 32 HP:0003549
2 fibroma 32 HP:0010614

MGI Mouse Phenotypes related to Myofibromatosis, Infantile, 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.13 ACTC1 NOTCH3 PDGFRB
2 normal MP:0002873 8.8 ACTC1 NOTCH3 PDGFRB

Drugs & Therapeutics for Myofibromatosis, Infantile, 1

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

Cochrane evidence based reviews: myofibromatosis

Genetic Tests for Myofibromatosis, Infantile, 1

Genetic tests related to Myofibromatosis, Infantile, 1:

id Genetic test Affiliating Genes
1 Infantile Myofibromatosis 1 29
2 Myofibromatosis, Infantile 1 24 PDGFRB

Anatomical Context for Myofibromatosis, Infantile, 1

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

39
Skin, Bone

Publications for Myofibromatosis, Infantile, 1

Variations for Myofibromatosis, Infantile, 1

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

71
id Symbol AA change Variation ID SNP ID
1 PDGFRB p.Arg561Cys VAR_069925 rs367543286
2 PDGFRB p.Pro660Thr VAR_069926 rs144050370

ClinVar genetic disease variations for Myofibromatosis, Infantile, 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PDGFRB NM_002609.3(PDGFRB): c.1681C> T (p.Arg561Cys) single nucleotide variant Pathogenic rs367543286 GRCh37 Chromosome 5, 149505134: 149505134
2 PDGFRB NM_002609.3(PDGFRB): c.1978C> A (p.Pro660Thr) single nucleotide variant Pathogenic rs144050370 GRCh37 Chromosome 5, 149503858: 149503858
3 NOTCH3 NM_000435.2(NOTCH3): c.4556T> C (p.Leu1519Pro) single nucleotide variant Pathogenic rs367543285 GRCh37 Chromosome 19, 15285059: 15285059
4 PDGFRB NM_002609.3(PDGFRB): c.1998C> A (p.Asn666Lys) single nucleotide variant Pathogenic/Likely pathogenic rs864309711 GRCh38 Chromosome 5, 150124275: 150124275
5 PDGFRB NM_002609.3(PDGFRB): c.1699A> G (p.Lys567Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 150125553: 150125553

Expression for Myofibromatosis, Infantile, 1

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

Pathways for Myofibromatosis, Infantile, 1

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

id Super pathways Score Top Affiliating Genes
1 11.43 NOTCH3 PDGFRB
2 10.56 NOTCH3 PDGFRB

GO Terms for Myofibromatosis, Infantile, 1

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

id Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 8.62 ACTC1 PDGFRB

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of smooth muscle cell proliferation GO:0048661 8.96 NOTCH3 PDGFRB
2 cardiac myofibril assembly GO:0055003 8.62 ACTC1 PDGFRB

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

id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.62 NOTCH3 PDGFRB

Sources for Myofibromatosis, Infantile, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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