MCID: MYF007
MIFTS: 24

Myofibromatosis, Infantile, 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cancer diseases categories

Aliases & Classifications for Myofibromatosis, Infantile, 1

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Myofibromatosis, Infantile, 1, Aliases & Descriptions:

Name: Myofibromatosis, Infantile, 1 45
Congenital Generalized Fibromatosis 41
 
Infantile Myofibromatosis 60


Classifications:



External Ids:

OMIM45 228550

Summaries for Myofibromatosis, Infantile, 1

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OMIM:45 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 congenital generalized fibromatosis, is related to fibromatosis and fibroma, and has symptoms including autosomal dominant inheritance, abnormality of connective tissue and fibroma. An important gene associated with Myofibromatosis, Infantile, 1 is PDGFRB (platelet-derived growth factor receptor, beta polypeptide), and among its related pathways are ERK Signaling and PAK Pathway. The compound cysteine have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related mouse phenotypes are renal/urinary system and muscle.

Related Diseases for Myofibromatosis, Infantile, 1

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Diseases in the Infantile Myofibromatosis family:

myofibromatosis, infantile, 1 Myofibromatosis, Infantile 2

Diseases related to Myofibromatosis, Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fibromatosis10.8
2fibroma10.1
3gingival hypertrophy10.1
4porencephaly10.1
5gingivitis10.1
6cutis marmorata telangiectatica congenita10.1
7infantile myofibromatosis10.1

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 autosomal dominant inheritance HP:0000006
2 abnormality of connective tissue HP:0003549
3 fibroma HP:0010614

Drugs & Therapeutics for Myofibromatosis, Infantile, 1

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Drug clinical trials:

Search ClinicalTrials for Myofibromatosis, Infantile, 1

Search NIH Clinical Center for Myofibromatosis, Infantile, 1

Genetic Tests for Myofibromatosis, Infantile, 1

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Anatomical Context for Myofibromatosis, Infantile, 1

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

31
Bone, Skin

Animal Models for Myofibromatosis, Infantile, 1 or affiliated genes

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MGI Mouse Phenotypes related to Myofibromatosis, Infantile, 1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.2NOTCH3, PDGFRB
2MP:00053699.2NOTCH3, PDGFRB
3MP:00053799.1NOTCH3, PDGFRB
4MP:00053809.1NOTCH3, PDGFRB
5MP:00053909.0PDGFRB, NOTCH3
6MP:00107718.8NOTCH3, 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:

62
id Symbol AA change Variation ID SNP ID
1PDGFRBp.Arg561CysVAR_069925
2PDGFRBp.Pro660ThrVAR_069926rs144050370

Clinvar genetic disease variations for Myofibromatosis, Infantile, 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PDGFRBNM_002609.3(PDGFRB): c.1681C> T (p.Arg561Cys)single nucleotide variantPathogenicrs367543286GRCh37Chr 5, 149505134: 149505134
2PDGFRBNM_002609.3(PDGFRB): c.1978C> A (p.Pro660Thr)single nucleotide variantPathogenicrs144050370GRCh37Chr 5, 149503858: 149503858
3NOTCH3NM_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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1NOTCH3, PDGFRB
2
Show member pathways
9.1NOTCH3, PDGFRB
39.1NOTCH3, PDGFRB
49.1NOTCH3, PDGFRB

Compounds for genes affiliated with Myofibromatosis, Infantile, 1

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Sources:
43Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1cysteine439.1NOTCH3, PDGFRB

GO Terms for genes affiliated with Myofibromatosis, Infantile, 1

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of smooth muscle cell proliferationGO:00486619.1NOTCH3, PDGFRB

Products for genes affiliated with Myofibromatosis, Infantile, 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myofibromatosis, Infantile, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet