MCID: MYF007
MIFTS: 31

Myofibromatosis, Infantile, 1 malady

Neuronal diseases, Skin diseases, Cancer diseases categories

Summaries for Myofibromatosis, Infantile, 1

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46OMIM, 32MalaCards
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MalaCards: Myofibromatosis, Infantile, 1, also known as infantile myofibromatosis, is related to infantile myofibromatosis and hemangiopericytoma, and has symptoms including intestinal obstruction/ileus, renal/kidney anomalies and hemiplegia/diplegia/hemiparesia/limb palsy. An important gene associated with Myofibromatosis, Infantile, 1 is PDGFRB (platelet-derived growth factor receptor, beta polypeptide), and among its related pathways are PAK Pathway and MicroRNAs in cancer. Affiliated tissues include bone, skin and lung.

Description from OMIM:46 228550,615293

Aliases & Classifications for Myofibromatosis, Infantile, 1

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48Orphanet, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Neuronal diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
infantile myofibromatosis:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

myofibromatosis, infantile, 1 46
infantile myofibromatosis 48


External Ids:

ICD10 via Orphanet26 D21
SNOMED-CT via Orphanet57 254146000
UMLS via Orphanet61 C0432284

Related Diseases for Myofibromatosis, Infantile, 1

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17GeneCards, 18GeneDecks
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Diseases in the Myofibromatosis, Infantile, 1 family:

Infantile Myofibromatosis Myofibromatosis, Infantile 2

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

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1infantile myofibromatosis10.5
2hemangiopericytoma10.3
3intussusception10.3
4fibrosarcoma10.3
5myofibromatosis, infantile 210.3
6choroiditis10.1
7myofibroma10.1
8cerebritis10.1
9rectal prolapse10.1
10hemochromatosis10.1
11congenital fibrosarcoma10.1
12hepatitis a10.1
13hepatitis10.1
14mediastinitis10.1
15pancreatitis10.1
16neonatal hemochromatosis10.1
17congenital generalized fibromatosis10.1

Graphical network of diseases related to Myofibromatosis, Infantile, 1:



Diseases related to myofibromatosis, infantile, 1

Clinical Features for Myofibromatosis, Infantile, 1

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46OMIM, 48Orphanet
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Clinical features from OMIM:

228550,615293

Clinical synopsis from OMIM:

228550

Symptoms:

48 (show all 31)
  • intestinal obstruction/ileus
  • renal/kidney anomalies
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • osteolysis/osteoclasia/bone destruction/erosions
  • restricted joint mobility/joint stiffness/ankylosis
  • hypercalcemia
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • benign tumor of the brain/nervous system
  • autosomal recessive inheritance
  • early death/lethality
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • irregular/in bands/reticular skin hyperpigmentation
  • chronic skin infection/ulcerations/ulcers/cancrum
  • muscle anomalies
  • fibromatosis/bone fibroma
  • bone cyst
  • metaphyseal anomaly
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance
  • skull/cranial anomalies
  • face/facial anomalies
  • thickened/hypertrophic/fibromatous gingivae
  • anomalies of chest/thorax/trunk
  • intestinal/colonic anomaly
  • periarticular tissue anomaly/extraarticular calcifications
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • anomalies of eyes and vision
  • anomalies of spine, vertebrae and pelvis
  • sacro-coccyx/sacrum anomaly
  • subcutaneous nodules/lipomas/tumefaction/swelling

Drugs & Therapeutics for Myofibromatosis, Infantile, 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Myofibromatosis, Infantile, 1

Drug clinical trials:

Search ClinicalTrials for Myofibromatosis, Infantile, 1

Search NIH Clinical Center for Myofibromatosis, Infantile, 1

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Genetic Tests for Myofibromatosis, Infantile, 1

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Anatomical Context for Myofibromatosis, Infantile, 1

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32MalaCards
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MalaCards organs/tissues related to Myofibromatosis, Infantile, 1:

32
Bone, Skin, Lung, Eye, Pancreas, Brain, Colon, Kidney

Animal Models for Myofibromatosis, Infantile, 1 or affiliated genes

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Publications for Myofibromatosis, Infantile, 1

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Genetic Variations for Myofibromatosis, Infantile, 1

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Myofibromatosis, Infantile, 1:

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

Expression for genes affiliated with Myofibromatosis, Infantile, 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myofibromatosis, Infantile, 1

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

Pathways for genes affiliated with Myofibromatosis, Infantile, 1

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51QIAGEN, 29KEGG, 4Cell Signaling Technology
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Pathways related to Myofibromatosis, Infantile, 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1NOTCH3, PDGFRB
29.1NOTCH3, PDGFRB
39.1NOTCH3, PDGFRB

Compounds for genes affiliated with Myofibromatosis, Infantile, 1

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GO Terms for genes affiliated with Myofibromatosis, Infantile, 1

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16Gene Ontology
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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:0486619.1NOTCH3, PDGFRB

Products for genes affiliated with Myofibromatosis, Infantile, 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myofibromatosis, Infantile, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet