MCID: INF049
MIFTS: 43

Infantile Myofibromatosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cancer diseases categories

Summaries for Infantile Myofibromatosis

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66Wikipedia, 34MalaCards
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Wikipedia:66 Infantile myofibromatosis (also known as \"Congenital generalized fibromatosis,\" and \"Congenital... more...

MalaCards: Infantile Myofibromatosis is related to hemangiopericytoma and fibromatosis. An important gene associated with Infantile Myofibromatosis is DES (desmin), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Aurora B signaling. The compounds toluidine and phalloidin have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and smooth muscle, and related mouse phenotypes are growth/size/body and cellular.

Aliases & Classifications for Infantile Myofibromatosis

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44NIH Rare Diseases, 46Novoseek, 63UMLS
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Classifications:



Aliases & Descriptions:

infantile myofibromatosis 44 46 63


Related Diseases for Infantile Myofibromatosis

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Sources:
18GeneCards, 19GeneDecks
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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 76)
idRelated DiseaseScoreTop Affiliating Genes
1hemangiopericytoma30.6ACTC1, VIM, DES
2fibromatosis30.4PDGFRB, ACTC1, VIM, DES
3fibrosarcoma30.3DES, VIM, ACTC1, PDGFRB
4myofibromatosis, infantile, 110.4
5intussusception10.3
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
21fasciitis10.1ACTC1
22adenomatoid tumor10.1VIM
23cutaneous fibrous histiocytoma10.0ACTC1, DES
24adenosarcoma10.0ACTC1, DES
25mesenchymal chondrosarcoma10.0VIM, DES
26embryonal rhabdomyosarcoma10.0ACTC1, DES
27alveolar soft part sarcoma10.0DES, VIM
28sertoli cell tumor10.0VIM, DES
29granular cell tumor10.0VIM, DES
30sex cord-gonadal stromal tumor10.0VIM, DES
31myoepithelioma10.0ACTC1, VIM
32liposarcoma10.0VIM, DES
33angiosarcoma10.0ACTC1, VIM
34dilated cardiomyopathy10.0ACTC1, DES
35malignant peripheral nerve sheath tumor10.0ACTC1, VIM
36synovial sarcoma10.0DES, VIM
37uterine sarcoma10.0PDGFRB, DES
38medulloblastoma10.0ACTC1, DES
39noonan syndrome10.0ACTC1, DES
40malignant mixed mullerian tumor10.0PDGFRB, VIM
41epithelioid leiomyosarcoma10.0ACTC1, VIM, DES
42pseudosarcomatous fibromatosis10.0DES, VIM, ACTC1
43spindle cell carcinoma10.0ACTC1, VIM, DES
44spindle cell sarcoma10.0DES, VIM, ACTC1
45fibrous histiocytoma10.0DES, VIM, ACTC1
46rhabdoid tumor10.0DES, VIM, ACTC1
47angiomyolipoma10.0DES, VIM, ACTC1
48glomus tumor10.0DES, VIM, ACTC1
49fibroma10.0DES, VIM, ACTC1
50smooth muscle tumor10.0ACTC1, VIM, DES

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



Diseases related to infantile myofibromatosis

Symptoms for Infantile Myofibromatosis

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Drugs & Therapeutics for Infantile Myofibromatosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

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Genetic Tests for Infantile Myofibromatosis

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Anatomical Context for Infantile Myofibromatosis

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34MalaCards
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MalaCards organs/tissues related to Infantile Myofibromatosis:

34
Bone, Spinal cord, Smooth muscle, Colon, Lung, Ovary, Tongue

Animal Models for Infantile Myofibromatosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Infantile Myofibromatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.0NOTCH3, PDGFRB, ACTC1, VIM
2MP:00053847.7VIM, ACTC1, PDGFRB, NOTCH3
3MP:00053697.6NOTCH3, PDGFRB, ACTC1, VIM, DES
4MP:00053857.6DES, VIM, ACTC1, PDGFRB, NOTCH3
5MP:00053767.5DES, VIM, ACTC1, PDGFRB, NOTCH3
6MP:00107687.4NOTCH3, PDGFRB, ACTC1, VIM, DES

Publications for Infantile Myofibromatosis

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53PubMed
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Articles related to Infantile Myofibromatosis:

(show top 50)    (show all 170)
idTitleAuthorsYear
1
Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI. (22118778)
2014
2
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. (23731537)
2013
3
Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. (23865785)
2013
4
Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement. (23223874)
2012
5
Risk-adapted therapy for infantile myofibromatosis in children. (22038698)
2012
6
Rapid spontaneous regression of multicentric infantile myofibromatosis in the posterior fossa and lumbar vertebra. (20949273)
2011
7
Solitary infantile myofibromatosis of the cranial vault: case report. (21279363)
2011
8
Infantile myofibromatosis: report of nine patients. (20199406)
2010
9
Development of renal and iliac aneurysms in a child with generalized infantile myofibromatosis. (19997940)
2010
10
Infantile myofibromatosis of the craniovertebral junction. (18661320)
2008
11
An unusual mesenchymal tumor of the skull: infantile myofibromatosis. (18230938)
2008
12
Infantile myofibromatosis of the scrotum. (18086598)
2008
13
Morphologic Overlap between Infantile Myofibromatosis and Infantile Fibrosarcoma: A Pitfall in Diagnosis. (19006426)
2008
14
Mediastinal and pulmonary infantile myofibromatosis: an unusual surgical presentation. (18970917)
2008
15
Multicentric infantile myofibromatosis: two perinatal cases. (17186271)
2007
16
Pathology quiz case 1. Infantile myofibromatosis. (17576917)
2007
17
Successful treatment of relapsed multifocal nonvisceral infantile myofibromatosis. (16251175)
2005
18
Infantile myofibromatosis with multiple congenital anomalies. (15916589)
2005
19
Autosomal dominant inheritance of infantile myofibromatosis. (15054839)
2004
20
Infantile myofibromatosis: support for autosomal dominant inheritance. (12894106)
2003
21
Infantile myofibromatosis of the central nervous system. (12720031)
2003
22
Use of 2-chlorodeoxyadenosine to treat infantile myofibromatosis. (11902743)
2002
23
Magnetic resonance imaging assessment of infantile myofibromatosis. (11798206)
2002
24
Quiz case. Congenital infantile myofibromatosis. Diaphragmatic and skeletal involvement but no visceral changes. (12127215)
2002
25
Intracranial infantile myofibromatosis with intraparenchymal involvement. (12006757)
2002
26
Infantile myofibromatosis: case report of a solitary hand lesion with emphasis on differential diagnosis and management. (11192039)
2001
27
Four half-siblings with infantile myofibromatosis: a case for autosomal-recessive inheritance. (11260217)
2001
28
Self-healing generalized infantile myofibromatosis with elevated urinary bFGF. (11576403)
2001
29
Solitary infantile myofibromatosis in the lateral orbit floor showing spontaneous regression. (11410140)
2001
30
Solitary infantile myofibromatosis in the femur. (10792791)
2000
31
Solitary form of infantile myofibromatosis: a histologic, immunohistochemical, and electronmicroscopic study of a regressing tumor over a 20-month period. (10446781)
1999
32
Solitary infantile myofibromatosis involving the clavicle. (10486019)
1999
33
Spinal canal involvement in infantile myofibromatosis: case report and review of the literature. (9703012)
1998
34
Generalized infantile myofibromatosis in a patient with Turner's syndrome: a trial of interferon-alpha. (9821432)
1998
35
Periorbital solitary-type infantile myofibromatosis. (9027683)
1997
36
Infantile myofibromatosis. A case report. (8560612)
1995
37
Are infantile myofibromatosis, congenital fibrosarcoma and congenital haemangiopericytoma histogenetically related? (7713484)
1995
38
Massive apoptosis in infantile myofibromatosis. A putative mechanism of tumor regression. (8129033)
1994
39
Intracranial infantile myofibromatosis. (7931587)
1994
40
Infantile myofibromatosis: a radiological review. (8332406)
1993
41
Familial occurrence of infantile myofibromatosis. (1739928)
1992
42
Infantile myofibromatosis of the temporal bone: a case report. (2012194)
1991
43
Solitary congenital fibromatosis (infantile myofibromatosis) of bone. (1928549)
1991
44
Major malformations in a case of infantile myofibromatosis. (2303073)
1990
45
Gastrointestinal multicentric infantile myofibromatosis: characteristic histology on rectal biopsy. (2672792)
1989
46
Congenital multiple fibromatosis (infantile myofibromatosis). (3337781)
1988
47
Infantile myofibromatosis of omentum. (3376593)
1988
48
Infantile myofibromatosis: the most common fibrous tumor of infancy. (3385581)
1988
49
Radiological case of the month. Infantile myofibromatosis. (3381784)
1988
50
Solitary nodule on the arm of an infant. Infantile myofibromatosis (IM). (3942412)
1986

Variations for Infantile Myofibromatosis

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Expression for genes affiliated with Infantile Myofibromatosis

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Sources:
2BioGPS, 16Gene 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

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51PathCards, 31KEGG, 39NCBI BioSystems Database, 13EMD Millipore, 61Thomson Reuters, 5Cell Signaling Technology, 56Reactome, 54QIAGEN
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Pathways related to Infantile Myofibromatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
9.5ACTC1, DES
2
Show member pathways
Signaling by Aurora kinases39
Aurora C signaling39
9.4VIM, DES
3
Show member pathways
Cytoskeleton remodeling Neurofilaments61
9.4VIM, DES
49.1NOTCH3, PDGFRB
5
Show member pathways
8.9ACTC1, VIM, DES
68.9DES, VIM, ACTC1
78.5VIM, PDGFRB, NOTCH3
8
Show member pathways
8.1NOTCH3, PDGFRB, VIM, DES

Compounds for genes affiliated with Infantile Myofibromatosis

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Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 25HMDB, 52PharmGKB, 3BitterDB, 62Tocris Bioscience
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Compounds related to Infantile Myofibromatosis according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1toluidine469.8VIM, DES
2phalloidin469.8VIM, DES
3gemfibrozil30 46 1211.8VIM, DES
4bezafibrate46 30 1211.7VIM, DES
52-methoxyethanol469.7ACTC1, VIM
6acetaldehyde30 46 2511.7VIM, DES
7dermatan sulfate469.7DES, VIM
8fenofibrate46 52 1211.7VIM, DES
9actomyosin469.7ACTC1, VIM
10progestin469.7DES, VIM
11azathioprine46 3 52 1212.6VIM, DES
12adriamycin469.6VIM, DES
13dihydrotestosterone46 30 25 1212.5VIM, DES
14heparan sulfate46 2510.4VIM, DES
15orcein469.3ACTC1, VIM, DES
16s 100469.3ACTC1, VIM, DES
17guanosine46 25 1211.3VIM, PDGFRB
18reticulin469.3DES, VIM, ACTC1
19mucicarmine469.3ACTC1, VIM, DES
20b 723469.3ACTC1, VIM, DES
21hematoxylin469.3ACTC1, VIM, DES
22gefitinib46 52 1211.3PDGFRB, VIM
23procollagen469.3DES, VIM, ACTC1
24biotin46 25 1211.3DES, VIM, ACTC1
25hyaluronic acid46 2510.3VIM, DES
26formaldehyde46 2510.3ACTC1, VIM, DES
27glycogen46 2510.2DES, VIM, ACTC1
28iron46 2510.2DES, VIM, ACTC1
29creatinine469.2ACTC1, VIM, DES
30sphingosine46 25 1211.2VIM, PDGFRB
31arginine469.1NOTCH3, VIM, DES
32tgf beta1469.1PDGFRB, VIM
33imatinib46 52 1211.1DES, ACTC1, PDGFRB
34ganglioside469.0PDGFRB, VIM, DES
35bromodeoxyuridine469.0DES, VIM, PDGFRB
36methionine469.0PDGFRB, VIM, DES
37proline468.9PDGFRB, VIM, DES
38matrigel468.9VIM, ACTC1, PDGFRB
39h2o2468.9PDGFRB, VIM, DES
40oxygen46 259.8PDGFRB, ACTC1, DES
41inositol 1,4,5 trisphosphate468.7PDGFRB, VIM
42glucose468.7DES, ACTC1, PDGFRB
43paraffin468.5DES, VIM, ACTC1, PDGFRB
44progesterone46 30 62 25 1212.5PDGFRB, ACTC1, VIM, DES
45testosterone46 62 25 1211.5PDGFRB, ACTC1, VIM, DES
46vegf468.5DES, VIM, ACTC1, PDGFRB
47estrogen468.5PDGFRB, ACTC1, VIM, DES
48retinoic acid46 259.5DES, VIM, ACTC1, PDGFRB
49cysteine468.4NOTCH3, PDGFRB, VIM, DES
50calcium46 52 25 1211.4NOTCH3, PDGFRB, ACTC1, DES

GO Terms for genes affiliated with Infantile Myofibromatosis

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17Gene Ontology
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Cellular components related to Infantile Myofibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.1VIM, DES
2cytosolGO:0058298.4NOTCH3, ACTC1, VIM, DES

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of smooth muscle cell proliferationGO:0486619.1NOTCH3, PDGFRB
2cardiac myofibril assemblyGO:0550038.8PDGFRB, ACTC1
3muscle filament slidingGO:0300498.8ACTC1, VIM, DES

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.4VIM, DES

Products for genes affiliated with Infantile Myofibromatosis

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Sources for Infantile Myofibromatosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet