MCID: MYF007
MIFTS: 35

Myofibromatosis, Infantile, 1 malady

Genetic diseases, Neuronal diseases, Skin diseases, Cancer diseases, Rare diseases categories
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Summaries for Myofibromatosis, Infantile, 1

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47OMIM, 33MalaCards
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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 ERK Signaling and PAK Pathway. The compound cysteine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung, and related mouse phenotypes are renal/urinary system and muscle.

Description from OMIM:47 228550,615293

Aliases & Classifications for Myofibromatosis, Infantile, 1

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49Orphanet, 47OMIM, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 47
infantile myofibromatosis 49


External Ids:

ICD10 via Orphanet26 D21
SNOMED-CT via Orphanet59 254146000
UMLS via Orphanet63 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 20)
idRelated DiseaseScoreTop Affiliating Genes
1infantile myofibromatosis11.3
2hemangiopericytoma10.4
3fibromatosis10.4
4intussusception10.3
5fibrosarcoma10.3
6myofibromatosis, infantile 210.3
7hemochromatosis10.1
8rectal prolapse10.1
9congenital fibrosarcoma10.1
10choroiditis10.1
11myofibroma10.1
12cerebritis10.1
13hepatitis10.1
14mediastinitis10.1
15pancreatitis10.1
16neonatal hemochromatosis10.1
17congenital generalized fibromatosis10.1
18fibromuscular dysplasia10.1
19aneurysm10.1
20gastric outlet obstruction10.1

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



Diseases related to myofibromatosis, infantile, 1

Symptoms for Myofibromatosis, Infantile, 1

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

228550

Clinical features from OMIM:

228550,615293

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Myofibromatosis, Infantile, 1:

33
Bone, Skin, Lung, Eye, Pancreas, Brain, Colon, Kidney

Animal Models for Myofibromatosis, Infantile, 1 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Myofibromatosis, Infantile, 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.2PDGFRB, NOTCH3
2MP:00053699.2NOTCH3, PDGFRB
3MP:00053799.1NOTCH3, PDGFRB
4MP:00053809.1NOTCH3, PDGFRB
5MP:00053909.0NOTCH3, PDGFRB
6MP:00107718.8PDGFRB, NOTCH3

Publications for Myofibromatosis, Infantile, 1

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Variations for Myofibromatosis, Infantile, 1

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

1
id Gene Name 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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2BioGPS, 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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Sources:
50PathCards, 53QIAGEN, 30KEGG, 5Cell 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
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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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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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet