MCID: INF049
MIFTS: 44

Infantile Myofibromatosis malady

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

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Wikipedia:65 Infantile myofibromatosis (also known as \"Congenital generalized fibromatosis,\" and \"Congenital... more...

MalaCards based summary: 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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Sources:
42NIH Rare Diseases, 44Novoseek, 62UMLS
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Infantile Myofibromatosis, Aliases & Descriptions:

Name: Infantile Myofibromatosis 42 44 62


Classifications:



Related Diseases for Infantile Myofibromatosis

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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 75)
idRelated DiseaseScoreTop Affiliating Genes
1hemangiopericytoma30.5DES, ACTC1, VIM
2fibromatosis30.0PDGFRB, VIM, DES, ACTC1
3fibrosarcoma29.9ACTC1, VIM, DES, PDGFRB
4myofibromatosis, infantile, 110.5
5fasciitis10.4ACTC1
6adenomatoid tumor10.3VIM
7intussusception10.3
8myofibromatosis, infantile 210.3
9cutaneous fibrous histiocytoma10.2ACTC1, DES
10adenosarcoma10.2DES, ACTC1
11mesenchymal chondrosarcoma10.2DES, VIM
12hepatitis10.2
13hemochromatosis10.2
14rectal prolapse10.2
15myofibroma10.2
16congenital fibrosarcoma10.2
17choroiditis10.2
18cerebritis10.2
19mediastinitis10.2
20pancreatitis10.2
21neonatal hemochromatosis10.2
22congenital generalized fibromatosis10.2
23fibromuscular dysplasia10.2
24aneurysm10.2
25gastric outlet obstruction10.2
26embryonal rhabdomyosarcoma10.2ACTC1, DES
27alveolar soft part sarcoma10.2VIM, DES
28sertoli cell tumor10.1DES, VIM
29granular cell tumor10.1VIM, DES
30sex cord-gonadal stromal tumor10.1DES, VIM
31myoepithelioma10.1ACTC1, VIM
32liposarcoma10.1VIM, DES
33angiosarcoma10.1VIM, ACTC1
34dilated cardiomyopathy10.1ACTC1, DES
35malignant peripheral nerve sheath tumor10.1VIM, ACTC1
36synovial sarcoma10.1VIM, DES
37uterine sarcoma10.1DES, PDGFRB
38medulloblastoma10.0DES, ACTC1
39noonan syndrome10.0DES, ACTC1
40malignant mixed mullerian tumor10.0VIM, PDGFRB
41epithelioid leiomyosarcoma10.0ACTC1, VIM, DES
42pseudosarcomatous fibromatosis10.0ACTC1, VIM, DES
43spindle cell carcinoma10.0VIM, DES, ACTC1
44spindle cell sarcoma10.0ACTC1, VIM, DES
45fibrous histiocytoma10.0DES, VIM, ACTC1
46rhabdoid tumor10.0DES, VIM, ACTC1
47angiomyolipoma10.0DES, VIM, ACTC1
48paraganglioma10.0DES, VIM, ACTC1
49fibroma10.0VIM, ACTC1, DES
50smooth muscle tumor10.0DES, VIM, ACTC1

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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Drug clinical trials:

Search ClinicalTrials for Infantile Myofibromatosis

Search 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:

32
Bone, Spinal cord, Smooth muscle, Colon, Lung, Ovary, Tongue

Animal Models for Infantile Myofibromatosis or affiliated genes

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MGI Mouse Phenotypes related to Infantile Myofibromatosis:

36
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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Articles related to Infantile Myofibromatosis:

(show top 50)    (show all 181)
idTitleAuthorsYear
1
Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI. (22118778)
2014
2
Diagnosis of infantile myofibromatosis with pseudo-ulcerated plaque using prenatal ultrasound: A case report. (25371730)
2014
3
Infantile myofibromatosis as an unusual cause for unilateral atelectasis in an infant. (24453022)
2014
4
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. (23731537)
2013
5
Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. (23865785)
2013
6
Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement. (23223874)
2012
7
Risk-adapted therapy for infantile myofibromatosis in children. (22038698)
2012
8
Rapid spontaneous regression of multicentric infantile myofibromatosis in the posterior fossa and lumbar vertebra. (20949273)
2011
9
Solitary infantile myofibromatosis of the cranial vault: case report. (21279363)
2011
10
Infantile myofibromatosis: report of nine patients. (20199406)
2010
11
Development of renal and iliac aneurysms in a child with generalized infantile myofibromatosis. (19997940)
2010
12
Infantile myofibromatosis of the craniovertebral junction. (18661320)
2008
13
An unusual mesenchymal tumor of the skull: infantile myofibromatosis. (18230938)
2008
14
Infantile myofibromatosis of the scrotum. (18086598)
2008
15
Morphologic Overlap between Infantile Myofibromatosis and Infantile Fibrosarcoma: A Pitfall in Diagnosis. (19006426)
2008
16
Multicentric infantile myofibromatosis: two perinatal cases. (17186271)
2007
17
Pathology quiz case 1. Infantile myofibromatosis. (17576917)
2007
18
Successful treatment of relapsed multifocal nonvisceral infantile myofibromatosis. (16251175)
2005
19
Infantile myofibromatosis with multiple congenital anomalies. (15916589)
2005
20
Autosomal dominant inheritance of infantile myofibromatosis. (15054839)
2004
21
Infantile myofibromatosis: support for autosomal dominant inheritance. (12894106)
2003
22
Infantile myofibromatosis of the central nervous system. (12720031)
2003
23
Use of 2-chlorodeoxyadenosine to treat infantile myofibromatosis. (11902743)
2002
24
Magnetic resonance imaging assessment of infantile myofibromatosis. (11798206)
2002
25
Quiz case. Congenital infantile myofibromatosis. Diaphragmatic and skeletal involvement but no visceral changes. (12127215)
2002
26
Intracranial infantile myofibromatosis with intraparenchymal involvement. (12006757)
2002
27
Infantile myofibromatosis: case report of a solitary hand lesion with emphasis on differential diagnosis and management. (11192039)
2001
28
Four half-siblings with infantile myofibromatosis: a case for autosomal-recessive inheritance. (11260217)
2001
29
Self-healing generalized infantile myofibromatosis with elevated urinary bFGF. (11576403)
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 review. (8061994)
1994
41
Infantile myofibromatosis: a radiological review. (8332406)
1993
42
Familial occurrence of infantile myofibromatosis. (1739928)
1992
43
Infantile myofibromatosis of the temporal bone: a case report. (2012194)
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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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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Pathways related to Infantile Myofibromatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.5ACTC1, DES
2
Show member pathways
Signaling by Aurora kinases37
Aurora C signaling37
9.4VIM, DES
3
Show member pathways
Cytoskeleton remodeling Neurofilaments60
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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Compounds related to Infantile Myofibromatosis according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1toluidine449.8VIM, DES
2phalloidin449.8VIM, DES
3gemfibrozil28 44 1111.8VIM, DES
4bezafibrate44 28 1111.7VIM, DES
52-methoxyethanol449.7ACTC1, VIM
6acetaldehyde28 44 2411.7VIM, DES
7dermatan sulfate449.7DES, VIM
8fenofibrate44 50 1111.7VIM, DES
9actomyosin449.7ACTC1, VIM
10progestin449.7DES, VIM
11azathioprine44 2 50 1112.6VIM, DES
12adriamycin449.6VIM, DES
13dihydrotestosterone44 28 24 1112.5VIM, DES
14heparan sulfate44 2410.4VIM, DES
15orcein449.3ACTC1, VIM, DES
16s 100449.3ACTC1, VIM, DES
17guanosine44 24 1111.3VIM, PDGFRB
18reticulin449.3DES, VIM, ACTC1
19mucicarmine449.3ACTC1, VIM, DES
20b 723449.3ACTC1, VIM, DES
21hematoxylin449.3ACTC1, VIM, DES
22gefitinib44 50 1111.3PDGFRB, VIM
23procollagen449.3DES, VIM, ACTC1
24biotin44 24 1111.3DES, VIM, ACTC1
25hyaluronic acid44 2410.3VIM, DES
26formaldehyde44 2410.3ACTC1, VIM, DES
27glycogen44 2410.2DES, VIM, ACTC1
28iron44 2410.2DES, VIM, ACTC1
29creatinine449.2ACTC1, VIM, DES
30sphingosine44 24 1111.2VIM, PDGFRB
31arginine449.1NOTCH3, VIM, DES
32tgf beta1449.1PDGFRB, VIM
33imatinib44 50 1111.1DES, ACTC1, PDGFRB
34ganglioside449.0PDGFRB, VIM, DES
35bromodeoxyuridine449.0DES, VIM, PDGFRB
36methionine449.0PDGFRB, VIM, DES
37proline448.9PDGFRB, VIM, DES
38matrigel448.9VIM, ACTC1, PDGFRB
39h2o2448.9PDGFRB, VIM, DES
40oxygen44 249.8PDGFRB, ACTC1, DES
41inositol 1,4,5 trisphosphate448.7PDGFRB, VIM
42glucose448.7DES, ACTC1, PDGFRB
43paraffin448.5DES, VIM, ACTC1, PDGFRB
44progesterone44 28 61 24 1112.5PDGFRB, ACTC1, VIM, DES
45testosterone44 61 24 1111.5PDGFRB, ACTC1, VIM, DES
46vegf448.5DES, VIM, ACTC1, PDGFRB
47estrogen448.5PDGFRB, ACTC1, VIM, DES
48retinoic acid44 249.5DES, VIM, ACTC1, PDGFRB
49cysteine448.4NOTCH3, PDGFRB, VIM, DES
50calcium44 50 24 1111.4NOTCH3, PDGFRB, ACTC1, DES

GO Terms for genes affiliated with Infantile Myofibromatosis

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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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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