MCID: MYF007
MIFTS: 28

Myofibromatosis, Infantile, 1 malady

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

Summaries for Myofibromatosis, Infantile, 1

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OMIM:47 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.

Aliases & Classifications for Myofibromatosis, Infantile, 1

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Myofibromatosis, Infantile, 1, Aliases & Descriptions:

Name: Myofibromatosis, Infantile, 1 47
Congenital Generalized Fibromatosis 43
 
Infantile Myofibromatosis 62


Classifications:



External Ids:

OMIM47 228550

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/GeneDecks gene sharing:

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

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:

33
Bone, Skin

Animal Models for Myofibromatosis, Infantile, 1 or affiliated genes

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MGI Mouse Phenotypes related to Myofibromatosis, Infantile, 1:

37
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:

64
id Symbol AA change Variation ID SNP ID
1PDGFRBp.Arg561CysVAR_069925
2PDGFRBp.Pro660ThrVAR_069926rs144050370

Clinvar genetic disease variations for Myofibromatosis, Infantile, 1:

7
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/GeneDecks:

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:
45Novoseek
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Compounds related to Myofibromatosis, Infantile, 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cysteine459.1NOTCH3, PDGFRB

GO Terms for genes affiliated with Myofibromatosis, Infantile, 1

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Biological processes related to Myofibromatosis, Infantile, 1 according to GeneCards/GeneDecks:

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
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Sources for Myofibromatosis, Infantile, 1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet