MCID: INF049
MIFTS: 32

Infantile Myofibromatosis malady

Summaries for Infantile Myofibromatosis

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 Infantile myofibromatosis (also known as \"Congenital generalized fibromatosis,\" and \"Congenital... more...

MalaCards: Infantile Myofibromatosis is related to fibromatosis and myofibroma. An important gene associated with Infantile Myofibromatosis is DES (desmin), and among its related pathways are Aurora B signaling and Cytoskeleton remodeling Neurofilaments. The compounds toluidine and phalloidin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, smooth muscle and skeletal muscle, and related mouse phenotype muscle.

Aliases & Classifications for Infantile Myofibromatosis

Sources:
43NIH Rare Diseases, 45Novoseek, 61UMLS
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Aliases & Descriptions:

infantile myofibromatosis 43 45 61


Related Diseases for Infantile Myofibromatosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the myofibromatosis, infantile, 1 family:

infantile myofibromatosis myofibromatosis, infantile 2

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

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1fibromatosis30.5VIM, DES, ACTC1
2myofibroma11.3
3myofibromatosis, infantile, 110.4
4intussusception10.3
5myofibromatosis, infantile 210.3
6rectal prolapse10.1
7hemochromatosis10.1
8congenital fibrosarcoma10.1
9turner syndrome10.1
10neonatal hemochromatosis10.1
11congenital generalized fibromatosis10.1
12fibromuscular dysplasia10.1
13gastric outlet obstruction10.1
14adenomatoid tumor10.0VIM
15perineurioma10.0VIM
16lymphangioleiomyomatosis10.0DES
17lipoma10.0DES
18epidermolysis bullosa simplex10.0DES
19meningioma10.0VIM
20fasciitis10.0ACTC1
21myopathy10.0DES
22teratoma10.0ACTC1
23hemangioma10.0ACTC1
24endometriosis10.0ACTC1
25mesenchymal chondrosarcoma10.0DES, VIM
26liposarcoma10.0DES, VIM
27alveolar soft part sarcoma10.0DES, VIM
28adenoma10.0ACTC1
29chondrosarcoma10.0VIM, DES
30sex cord-gonadal stromal tumor10.0DES, VIM
31tuberous sclerosis10.0VIM
32papilloma10.0ACTC1
33sertoli cell tumor10.0VIM, DES
34granular cell tumor10.0VIM, DES
35myoepithelioma10.0VIM, ACTC1
36synovial sarcoma10.0VIM, DES
37angiosarcoma10.0VIM, ACTC1
38peripheral primitive neuroectodermal tumor10.0VIM, DES
39malignant peripheral nerve sheath tumor10.0ACTC1, VIM
40chordoma10.0VIM, DES
41adenoid cystic carcinoma10.0VIM, ACTC1
42cutaneous fibrous histiocytoma10.0ACTC1, DES
43adenosarcoma10.0DES, ACTC1
44embryonal rhabdomyosarcoma10.0DES, ACTC1
45medulloblastoma10.0DES, ACTC1
46desmoid tumor10.0DES, ACTC1
47neurofibroma10.0VIM, ACTC1
48noonan syndrome10.0ACTC1, DES
49epithelioid leiomyosarcoma10.0ACTC1, DES, VIM
50pseudosarcomatous fibromatosis10.0ACTC1, DES, VIM

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



Diseases related to infantile myofibromatosis

Clinical Features for Infantile Myofibromatosis

Drugs & Therapeutics for Infantile Myofibromatosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Infantile Myofibromatosis

Drug clinical trials:

Search ClinicalTrials for Infantile Myofibromatosis

Search NIH Clinical Center for Infantile Myofibromatosis

Search CenterWatch for Infantile Myofibromatosis

Genetic Tests for Infantile Myofibromatosis

Anatomical Context for Infantile Myofibromatosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Infantile Myofibromatosis:

33
Spinal cord, Smooth muscle, Skeletal muscle, Small intestine, Colon, Lung, Ovary, Tongue, Fetal lung

Animal Models for Infantile Myofibromatosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Infantile Myofibromatosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5ACTC1, DES, VIM

Publications for Infantile Myofibromatosis

Sources:
51PubMed
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Articles related to Infantile Myofibromatosis:

(show top 50)    (show all 174)
idTitleAuthorsYear
1
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. (23731537)
2013
2
Solitary infantile myofibromatosis in the bones of the upper extremities: Two rare cases and a review of the literature. (24179532)
2013
3
Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement. (23223874)
2012
4
Multicentric infantile myofibromatosis of the small bowel detected by video capsule endoscopy in a child. (22814908)
2012
5
Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance. (23217896)
2012
6
Isolated infantile myofibromatosis of the upper eyelid: uncommon localization and long-term results after surgical management. (22813815)
2012
7
Discrepant findings in a monoamniotic twin pregnancy affected by infantile myofibromatosis. (19306469)
2009
8
Infantile myofibromatosis of the scrotum. (18086598)
2008
9
Solitary infantile myofibromatosis (myofibroma) of the skull: a case presentation and histopathological differential diagnosis. (18549297)
2008
10
Self-healing generalized infantile myofibromatosis. (18211420)
2008
11
Infantile myofibromatosis. (18074145)
2008
12
Colorectal infantile myofibromatosis: an unusual cause of rectal prolapse and sigmoid colo-colonic intussusception: a case report. (19077316)
2008
13
Combined endoscopy-assisted cranionasal approach for resection of infantile myofibromatosis of the ethmoid and anterior skull base. Case report. (18590397)
2008
14
Multicentric infantile myofibromatosis: two perinatal cases. (17186271)
2007
15
Re: a newborn with multiple fractures as first presentation of infantile myofibromatosis. (17262051)
2007
16
An enlarging tender nodule on the finger of a 4-year-old boy: an unusual presentation of infantile myofibromatosis. (17637366)
2007
17
An historic perspective of infantile myofibromatosis. (17249306)
2006
18
Infantile myofibromatosis with multiple congenital anomalies. (15916589)
2005
19
Autosomal dominant inheritance of infantile myofibromatosis. (15054839)
2004
20
Infantile myofibromatosis: a case report and review of the literature. (15134320)
2004
21
Infantile myofibromatosis: support for autosomal dominant inheritance. (12894106)
2003
22
Magnetic resonance imaging assessment of infantile myofibromatosis. (11798206)
2002
23
Infantile myofibromatosis with visceral involvement and complete spontaneous regression. (11510506)
2001
24
Solitary infantile myofibromatosis in the femur. (10792791)
2000
25
del(6)(q12q15) as the sole cytogenetic anomaly in a case of solitary infantile myofibromatosis. (10425309)
1999
26
An unusual presentation of congenital infantile myofibromatosis arising from the interspinous ligament. (9880725)
1998
27
Multicentric infantile myofibromatosis. (9865442)
1998
28
Solitary hepatic infantile myofibromatosis in a female adolescent. (9590431)
1998
29
Image interpretation session: 1997. Infantile myofibromatosis. (9460125)
1998
30
Infantile myofibromatosis. (9361358)
1997
31
Infantile myofibromatosis located in the temporal bone. (9454983)
1997
32
Infantile myofibromatosis with hemangiopericytoma-like features of the tongue: a case study including ultrastructure. (9086537)
1997
33
Solitary infantile myofibromatosis of the skull. (7793367)
1995
34
Infantile myofibromatosis. (8614868)
1995
35
Special imaging casebook. Infantile myofibromatosis: solitary and multifocal varieties. (7666279)
1995
36
Infantile myofibromatosis--a review. (8061994)
1994
37
Solitary infantile myofibromatosis of axis. A case report. (8153812)
1994
38
Solitary infantile myofibromatosis of bone. An immunohistochemical and ultrastructural study. (8434710)
1993
39
Intracranial solitary-type infantile myofibromatosis. (8402709)
1993
40
Familial occurrence of infantile myofibromatosis. (1739928)
1992
41
Infantile myofibromatosis of the temporal bone: a case report. (2012194)
1991
42
Major malformations in a case of infantile myofibromatosis. (2303073)
1990
43
Infantile myofibromatosis with a solitary lesion in the skull--case report. (1697046)
1990
44
Quiz. Infantile myofibromatosis. (2279425)
1990
45
Infantile myofibromatosis of omentum. (3376593)
1988
46
Infantile myofibromatosis. (3236168)
1988
47
A newborn with a solitary nodule on the scalp. Infantile myofibromatosis (solitary type). (3662574)
1987
48
Solitary nodule on the arm of an infant. Infantile myofibromatosis (IM). (3942412)
1986
49
Infantile myofibromatosis. Report of two cases. (3788568)
1986
50
Localized infantile myofibromatosis. Report of a case originating in the mandible. (6585459)
1984

Genetic Variations for Infantile Myofibromatosis

Expression for genes affiliated with Infantile Myofibromatosis

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

Search GEO for disease gene expression data for Infantile Myofibromatosis.

Pathways for genes affiliated with Infantile Myofibromatosis

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 54Reactome, 4Cell Signaling Technology
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Compounds for genes affiliated with Infantile Myofibromatosis

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB, 60Tocris Bioscience
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Compounds related to Infantile Myofibromatosis according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1toluidine459.7DES, VIM
2phalloidin459.7VIM, DES
3gemfibrozil45 29 1111.7DES, VIM
4bezafibrate45 29 1111.6VIM, DES
5acetaldehyde45 29 2411.6VIM, DES
6fenofibrate45 50 1111.6DES, VIM
7ganglioside459.6DES, VIM
8progestin459.6DES, VIM
92-methoxyethanol459.5ACTC1, VIM
10azathioprine45 50 2 1112.5DES, VIM
11actomyosin459.5ACTC1, VIM
12adriamycin459.4DES, VIM
13bromodeoxyuridine459.4VIM, DES
14dihydrotestosterone45 29 11 2412.3VIM, DES
15heparan sulfate45 2410.3DES, VIM
16hyaluronic acid45 2410.2DES, VIM
17orcein458.9DES, ACTC1, VIM
18s 100458.9VIM, DES, ACTC1
19reticulin458.9ACTC1, VIM, DES
20mucicarmine458.9DES, ACTC1, VIM
21b 723458.9DES, VIM, ACTC1
22hematoxylin458.9ACTC1, VIM, DES
23procollagen458.9DES, ACTC1, VIM
24biotin45 11 2410.9ACTC1, DES, VIM
25formaldehyde45 249.9ACTC1, DES, VIM
26glycogen45 249.9ACTC1, DES, VIM
27paraffin458.9ACTC1, VIM, DES
28iron45 249.9ACTC1, DES, VIM
29creatinine458.8VIM, DES, ACTC1
30progesterone45 60 29 11 2412.8ACTC1, VIM, DES
31testosterone45 60 11 2411.8ACTC1, VIM, DES
32vegf458.8ACTC1, DES, VIM
33imatinib45 50 1110.7DES, ACTC1
34estrogen458.7VIM, ACTC1, DES
35retinoic acid45 249.7VIM, DES, ACTC1

GO Terms for genes affiliated with Infantile Myofibromatosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Infantile Myofibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.3DES, VIM
2extracellular vesicular exosomeGO:0700628.8ACTC1, VIM

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

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:0300498.5ACTC1, DES, VIM

Molecular functions related to Infantile Myofibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.3DES, VIM

Products for genes affiliated with Infantile Myofibromatosis

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Sources for Infantile Myofibromatosis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet