MCID: INF049
MIFTS: 43

Infantile Myofibromatosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cancer diseases categories
Download this MalaCard

Summaries for Infantile Myofibromatosis

About this section
Sources:
65Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard
Wikipedia:65 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

About this section
Sources:
43NIH Rare Diseases, 45Novoseek, 62UMLS
See all sources

Classifications:



Aliases & Descriptions:

infantile myofibromatosis 43 45 62


Related Diseases for Infantile Myofibromatosis

About this section
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 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

About this section

Drugs & Therapeutics for Infantile Myofibromatosis

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Infantile Myofibromatosis

Search NIH Clinical Center for Infantile Myofibromatosis

Genetic Tests for Infantile Myofibromatosis

About this section

Anatomical Context for Infantile Myofibromatosis

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Infantile Myofibromatosis:

33
Bone, Spinal cord, Smooth muscle, Colon, Lung, Ovary, Tongue

Animal Models for Infantile Myofibromatosis or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Infantile Myofibromatosis:

37
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

About this section
Sources:
52PubMed
See all sources

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

About this section

Expression for genes affiliated with Infantile Myofibromatosis

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 60Thomson Reuters, 5Cell Signaling Technology, 55Reactome, 53QIAGEN
See all sources

Pathways related to Infantile Myofibromatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.5ACTC1, DES
2
Show member pathways
Signaling by Aurora kinases38
Aurora C signaling38
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

About this section
Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 51PharmGKB, 3BitterDB, 61Tocris Bioscience
See all sources

Compounds related to Infantile Myofibromatosis according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1toluidine459.8VIM, DES
2phalloidin459.8VIM, DES
3gemfibrozil29 45 1111.8VIM, DES
4bezafibrate45 29 1111.7VIM, DES
52-methoxyethanol459.7ACTC1, VIM
6acetaldehyde29 45 2411.7VIM, DES
7dermatan sulfate459.7DES, VIM
8fenofibrate45 51 1111.7VIM, DES
9actomyosin459.7ACTC1, VIM
10progestin459.7DES, VIM
11azathioprine45 3 51 1112.6VIM, DES
12adriamycin459.6VIM, DES
13dihydrotestosterone45 29 24 1112.5VIM, DES
14heparan sulfate45 2410.4VIM, DES
15orcein459.3ACTC1, VIM, DES
16s 100459.3ACTC1, VIM, DES
17guanosine45 24 1111.3VIM, PDGFRB
18reticulin459.3DES, VIM, ACTC1
19mucicarmine459.3ACTC1, VIM, DES
20b 723459.3ACTC1, VIM, DES
21hematoxylin459.3ACTC1, VIM, DES
22gefitinib45 51 1111.3PDGFRB, VIM
23procollagen459.3DES, VIM, ACTC1
24biotin45 24 1111.3DES, VIM, ACTC1
25hyaluronic acid45 2410.3VIM, DES
26formaldehyde45 2410.3ACTC1, VIM, DES
27glycogen45 2410.2DES, VIM, ACTC1
28iron45 2410.2DES, VIM, ACTC1
29creatinine459.2ACTC1, VIM, DES
30sphingosine45 24 1111.2VIM, PDGFRB
31arginine459.1NOTCH3, VIM, DES
32tgf beta1459.1PDGFRB, VIM
33imatinib45 51 1111.1DES, ACTC1, PDGFRB
34ganglioside459.0PDGFRB, VIM, DES
35bromodeoxyuridine459.0DES, VIM, PDGFRB
36methionine459.0PDGFRB, VIM, DES
37proline458.9PDGFRB, VIM, DES
38matrigel458.9VIM, ACTC1, PDGFRB
39h2o2458.9PDGFRB, VIM, DES
40oxygen45 249.8PDGFRB, ACTC1, DES
41inositol 1,4,5 trisphosphate458.7PDGFRB, VIM
42glucose458.7DES, ACTC1, PDGFRB
43paraffin458.5DES, VIM, ACTC1, PDGFRB
44progesterone45 29 61 24 1112.5PDGFRB, ACTC1, VIM, DES
45testosterone45 61 24 1111.5PDGFRB, ACTC1, VIM, DES
46vegf458.5DES, VIM, ACTC1, PDGFRB
47estrogen458.5PDGFRB, ACTC1, VIM, DES
48retinoic acid45 249.5DES, VIM, ACTC1, PDGFRB
49cysteine458.4NOTCH3, PDGFRB, VIM, DES
50calcium45 51 24 1111.4NOTCH3, PDGFRB, ACTC1, DES

GO Terms for genes affiliated with Infantile Myofibromatosis

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Infantile Myofibromatosis

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet