MCID: INF049
MIFTS: 42

Infantile Myofibromatosis malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Infantile Myofibromatosis

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Infantile Myofibromatosis:

Name: Infantile Myofibromatosis 10 45 47 51 24 65

Characteristics:

Orphanet epidemiological data:

51
infantile myofibromatosis:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:0080109
Orphanet51 2591
ICD10 via Orphanet28 D48.1
UMLS via Orphanet66 C0432284
UMLS65 C0432284

Summaries for Infantile Myofibromatosis

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Disease Ontology:10 A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.

MalaCards based summary: Infantile Myofibromatosis is related to melanoma and gastrointestinal stromal tumor, and has symptoms including abnormality of the metaphyses, abnormality of the musculature and neoplasm of the skeletal system. An important gene associated with Infantile Myofibromatosis is PDGFRB (Platelet Derived Growth Factor Receptor Beta), and among its related pathways are Aurora B signaling and MicroRNAs in cancer. Affiliated tissues include bone, skin and lung, and related mouse phenotypes are cardiovascular system and muscle.

Wikipedia:68 Infantile myofibromatosis (also known as \"Congenital generalized fibromatosis,\" and \"Congenital... more...

Related Diseases for Infantile Myofibromatosis

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Diseases in the Infantile Myofibromatosis family:

Myofibromatosis, Infantile, 1 Myofibromatosis, Infantile 2

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

(show top 50)    (show all 185)
idRelated DiseaseScoreTop Affiliating Genes
1melanoma30.2ACTC1, DES, VIM
2gastrointestinal stromal tumor30.0ACTC1, PDGFRB, VIM
3myofibromatosis, infantile, 111.8
4myofibromatosis, infantile 210.6
5hepatocellular carcinoma10.4
6hiv-110.4
7breast cancer10.4
8prostatitis10.4
9prostate cancer10.3
10arthritis10.3
11hepatitis10.3
12leukemia10.3
13cerebritis10.3
14salpingitis10.3
15adenoma10.3
16hypoxia10.3
17endotheliitis10.3
18premature aging syndrome, penttinen type10.2NOTCH3, PDGFRB
19pulmonary venous return anomaly10.2ACTC1, DES
20uveal diseases10.2DES, PDGFRB
21benign deep fibrous histiocytoma10.2ACTC1, DES
22thymus lipoma10.2ACTC1, DES
23proliferative fasciitis10.2ACTC1, DES
24gingival hypertrophy10.1DES, VIM
25malignant teratocarcinosarcoma10.1DES, VIM
26schizophrenia10.1
27neuroblastoma10.1
28colorectal cancer10.1
29myocardial infarction10.1
30malaria10.1
31lung cancer10.1
32whim syndrome10.1
33asthma10.1
34obesity10.1
35attention deficit-hyperactivity disorder10.1
36osteoporosis10.1
37celiac disease10.1
38saethre-chotzen syndrome10.1
39gastroesophageal reflux10.1
40cryptorchidism10.1
41norrie disease10.1
42rett syndrome10.1
43alpha 1-antitrypsin deficiency10.1
44atherosclerosis10.1
45chronic lymphocytic leukemia10.1
46colorectal adenoma10.1
47heart valve disease10.1
48hereditary hemorrhagic telangiectasia10.1
49liver cirrhosis10.1
50polycystic ovary syndrome10.1

Graphical network of the top 20 diseases related to Infantile Myofibromatosis:



Diseases related to infantile myofibromatosis

Symptoms for Infantile Myofibromatosis

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Symptoms:

 51 (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 Infantile Myofibromatosis:

(show all 23)
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 neoplasm of the lung typical (50%) HP:0100526
11 abnormality of the kidney occasional (7.5%) HP:0000077
12 abnormality of the eye occasional (7.5%) HP:0000478
13 limitation of joint mobility occasional (7.5%) HP:0001376
14 tracheoesophageal fistula occasional (7.5%) HP:0002575
15 osteolysis occasional (7.5%) HP:0002797
16 neoplasm of the pancreas occasional (7.5%) HP:0002894
17 hypercalcemia occasional (7.5%) HP:0003072
18 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
19 abnormality of the sacrum occasional (7.5%) HP:0005107
20 intestinal obstruction occasional (7.5%) HP:0005214
21 irregular hyperpigmentation occasional (7.5%) HP:0007400
22 benign neoplasm of the central nervous system occasional (7.5%) HP:0100835
23 skin ulcer occasional (7.5%) HP:0200042

Drugs & Therapeutics for Infantile Myofibromatosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Infantile Myofibromatosis

Genetic Tests for Infantile Myofibromatosis

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Anatomical Context for Infantile Myofibromatosis

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MalaCards organs/tissues related to Infantile Myofibromatosis:

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

Animal Models for Infantile Myofibromatosis or affiliated genes

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MGI Mouse Phenotypes related to Infantile Myofibromatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.9ACTC1, DES, NOTCH3, PDGFRB, VIM
2MP:00053697.6ACTC1, DES, NOTCH3, PDGFRB, VIM
3MP:00053767.3ACTC1, DES, NDRG4, NOTCH3, PDGFRB, VIM

Publications for Infantile Myofibromatosis

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Articles related to Infantile Myofibromatosis:

(show top 50)    (show all 185)
idTitleAuthorsYear
1
Sexual Violence, Weight Perception, and Eating Disorder Indicators in College Females. (26502797)
2015
2
Wild-type human I^D-crystallin promotes aggregation of its oxidation-mimicking, misfolding-prone W42Q mutant. (25787081)
2015
3
Surgically Confirmed Intra- and Extratesticular Hematoma Clinically Mimicing Epididymo-Orchitis and Radiologically Mimicing Traumatic Torsion. (26600877)
2015
4
Role of CDH1 promoter polymorphism and DNA methylation in bladder carcinogenesis: a meta-analysis. (24491043)
2014
5
Aging impairs VEGF-mediated, androgen-dependent regulation of angiogenesis. (25058601)
2014
6
Learning to fail in aphasia: an investigation of error learning in naming. (23816662)
2013
7
Impact of paroxysmal sympathetic hyperactivity on nutrition management after brain injury: A case series. (24378107)
2013
8
Leiomyoma of the greater saphenous vein mimicking inguinal lymphadenopathy. (24363945)
2013
9
Association of MRI findings and visual outcome in idiopathic intracranial hypertension. (23883223)
2013
10
Blindness caused by septic superior ophthalmic vein thrombosis in a Lemierre Syndrome variant. (23084837)
2013
11
A comparison of neuropeptide expression in skin with allergic contact dermatitis in human and mouse. (22788810)
2012
12
Cholesterol regulates VEGFR-1 (FLT-1) expression and signaling in acute leukemia cells. (21209384)
2011
13
Apolipoprotein E4 and sex affect neurobehavioral performance in primary school children. (19952867)
2010
14
Carbonic anhydrase XII expression is associated with histologic grade of cervical cancer and superior radiotherapy outcome. (21040567)
2010
15
Interaction of reelin with amyloid precursor protein promotes neurite outgrowth. (19515914)
2009
16
Technetium-99m scan in the laparoscopic management of a misdiagnosed Meckel's diverticulum: a case report. (19830131)
2009
17
Venezuelan equine encephalitis virus in the mosquito vector Aedes taeniorhynchus: infection initiated by a small number of susceptible epithelial cells and a population bottleneck. (18023837)
2008
18
Activity of lapatinib a novel HER2 and EGFR dual kinase inhibitor in human endometrial cancer cells. (18334972)
2008
19
Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers. (17151928)
2007
20
Common polymorphisms in 5-lipoxygenase and 12-lipoxygenase genes and the risk of incident, sporadic colorectal adenoma. (17236225)
2007
21
DNA topoisomerase IIalpha (TOP2A) inhibitors up-regulate fatty acid synthase gene expression in SK-Br3 breast cancer cells: in vitro evidence for a 'functional amplicon' involving FAS, Her-2/neu and TOP2A genes. (17089011)
2006
22
Roles of rifampicin in drug-drug interactions: underlying molecular mechanisms involving the nuclear pregnane X receptor. (16480505)
2006
23
A common pathway in differentiation and inflammation: p38 mediates expression of the acute phase SIP24 iron binding lipocalin in chondrocytes. (16222708)
2006
24
Renin-angiotensin system and haemostasis gene polymorphisms and outcome after coronary artery bypass graft surgery. (15676177)
2005
25
Peroxisome proliferator activated receptor-gamma ligands induced cell growth inhibition and its influence on matrix metalloproteinase activity in human myeloid leukemia cells. (15838654)
2005
26
Response of Plasmodium falciparum to cotrimoxazole therapy: relationship with plasma drug concentrations and dihydrofolate reductase and dihydropteroate synthase genotypes. (16014854)
2005
27
Differential effects of forskolin on tyrosine hydroxylase gene transcription in identified brainstem catecholaminergic neuronal subtypes in organotypic culture. (15787695)
2005
28
Ezrin controls the macromolecular complexes formed between an adapter protein Na+/H+ exchanger regulatory factor and the cystic fibrosis transmembrane conductance regulator. (16129695)
2005
29
Significance of MMP-2 and TIMP-2 mRNA expressions on glomerular cells in the development of glomerulosclerosis. (15250240)
2004
30
Polymorphisms in the DNA repair gene XRCC1 and age-related disease. (12618003)
2003
31
Extended investigation of tau and mutation screening of other candidate genes on chromosome 17q21 in a Swedish FTDP-17 family. (12898585)
2003
32
Concurrence of relapsing polychondritis and psoriatic arthritis. (17041338)
2002
33
Manipulation of the expression of regulatory genes of polyamine metabolism results in specific alterations of the cell-cycle progression. (11171097)
2001
34
CRMP-5 neuronal autoantibody: marker of lung cancer and thymoma- related autoimmunity. (11220734)
2001
35
Natural killer cell recognition of HLA class I molecules. (11256749)
2000
36
Pancreatic head mass from metastatic meningeal hemangiopericytoma. (18521297)
2000
37
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. (10360771)
1999
38
Treatment of fibrosing cholestatic hepatitis with lamivudine. (9649474)
1998
39
Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). (9109432)
1997
40
Connective tissue in skin biopsies from patients suffering systemic sclerosis. (8964053)
1996
41
nm23 in ovarian cancer: correlation with clinical outcome and other clinicopathologic and biochemical prognostic parameters. (8636741)
1996
42
Neuropeptide Y accounts for sympathetic vasoconstriction in guinea-pig vena cava: evidence using BIBP 3226 and 3435. (8750731)
1995
43
Pharmacokinetic, insulinotropic, and glucagonostatic properties of GLP-1 [7-36 amide] after subcutaneous injection in healthy volunteers. Dose-response-relationships. (7672496)
1995
44
Recombinagenic activity of the phorbol ester 12-O-tetradecanoylphorbol-13-acetate in human lymphoblastoid cells. (7634395)
1995
45
Slipped capital femoral epiphysis in children. (7728212)
1995
46
Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant. (8074148)
1994
47
Uses and limitations of monoclonal antibodies to Giardia lamblia-specific 66-kDa copro-antigen in copro-immunodiagnosis of giardiasis. (7682467)
1993
48
Prenatal diagnosis of a large liver cavernous haemangioma associated with polyhydramnios. (1557314)
1992
49
Is unilateral multicystic renal dysplasia sometimes heritable, and what is the risk of recurrence? (2088471)
1990
50
HARTNUP DISEASE: A GENETIC MODIFICATION OF INTESTINAL AND RENAL TRANSPORT OF CERTAIN NEUTRAL ALPHA-AMINO ACIDS. (14324515)
1965

Variations for Infantile Myofibromatosis

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Cosmic variations for Infantile Myofibromatosis:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM584NRASskin,neck,benign melanocytic nevus,congenital1

Expression for genes affiliated with Infantile Myofibromatosis

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Search GEO for disease gene expression data for Infantile Myofibromatosis.

Pathways for genes affiliated with Infantile Myofibromatosis

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Pathways related to Infantile Myofibromatosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2DES, VIM
28.9NOTCH3, PDGFRB, VIM
38.7ACTC1, DES, VIM

GO Terms for genes affiliated with Infantile Myofibromatosis

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Cellular components related to Infantile Myofibromatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeletonGO:00451119.2DES, VIM

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

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:00300499.1ACTC1, VIM

Sources for Infantile Myofibromatosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet