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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MalaCards based summary: Myofibromatosis, Infantile, 1, also known as infantile myofibromatosis, is related to infantile myofibromatosis and hemangiopericytoma, and has symptoms including subcutaneous nodules/lipomas/tumefaction/swelling, muscle anomalies and fibromatosis/bone 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, skin and eye, and related mouse phenotypes are renal/urinary system and muscle.

Descriptions from OMIM:46 228550,615293

Aliases & Classifications for Myofibromatosis, Infantile, 1

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Sources:
48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Myofibromatosis, Infantile, 1, Aliases & Descriptions:

Name: Myofibromatosis, Infantile, 1 46
 
Infantile Myofibromatosis 48 62


Classifications:



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


External Ids:

ICD10 via Orphanet26 D21
UMLS via Orphanet63 C0432284

Related Diseases for Myofibromatosis, Infantile, 1

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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
7hepatitis10.2
8hemochromatosis10.2
9rectal prolapse10.2
10myofibroma10.2
11congenital fibrosarcoma10.2
12choroiditis10.2
13cerebritis10.2
14mediastinitis10.2
15pancreatitis10.2
16neonatal hemochromatosis10.2
17congenital generalized fibromatosis10.2
18fibromuscular dysplasia10.2
19aneurysm10.2
20gastric outlet obstruction10.2

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:

228550,615293

Symptoms:

48 (show all 31)
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • 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
  • chronic skin infection/ulcerations/ulcers/cancrum
  • irregular/in bands/reticular skin hyperpigmentation
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • 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

HPO human phenotypes related to Myofibromatosis, Infantile, 1:

(show all 27)
id Description Frequency HPO Source Accession
1 abnormality of the metaphyses hallmark (90%) HP:0000944
2 abnormality of the musculature hallmark (90%) HP:0003011
3 neoplasm of the skeletal system hallmark (90%) HP:0010622
4 bone cyst hallmark (90%) HP:0012062
5 sarcoma hallmark (90%) HP:0100242
6 gingival overgrowth typical (50%) HP:0000212
7 abnormality of the thorax typical (50%) HP:0000765
8 abnormality of the skull typical (50%) HP:0000929
9 chondrocalcinosis typical (50%) HP:0000934
10 abnormality of the intestine typical (50%) HP:0002242
11 neoplasm of the lung typical (50%) HP:0100526
12 abnormality of the kidney occasional (7.5%) HP:0000077
13 abnormality of the eye occasional (7.5%) HP:0000478
14 limitation of joint mobility occasional (7.5%) HP:0001376
15 tracheoesophageal fistula occasional (7.5%) HP:0002575
16 osteolysis occasional (7.5%) HP:0002797
17 neoplasm of the pancreas occasional (7.5%) HP:0002894
18 hypercalcemia occasional (7.5%) HP:0003072
19 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
20 abnormality of the sacrum occasional (7.5%) HP:0005107
21 intestinal obstruction occasional (7.5%) HP:0005214
22 irregular hyperpigmentation occasional (7.5%) HP:0007400
23 benign neoplasm of the central nervous system occasional (7.5%) HP:0100835
24 skin ulcer occasional (7.5%) HP:0200042
25 autosomal dominant inheritance HP:0000006
26 abnormality of connective tissue HP:0003549
27 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:

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

Animal Models for Myofibromatosis, Infantile, 1 or affiliated genes

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MGI Mouse Phenotypes related to Myofibromatosis, Infantile, 1:

36
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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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:

6
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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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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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:
44Novoseek
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Compounds related to Myofibromatosis, Infantile, 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cysteine449.1NOTCH3, 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:0486619.1NOTCH3, 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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet