MCID: INF049
MIFTS: 54

Infantile Myofibromatosis malady

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

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, 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 polypeptide), and among its related pathways are Angiogenesis and Cytoplasmic microtubules. The compounds guanosine and gefitinib have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung, and related mouse phenotypes are growth/size/body and cellular.

Aliases & Classifications for Infantile Myofibromatosis

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Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Infantile Myofibromatosis, Aliases & Descriptions:

Name: Infantile Myofibromatosis 43 45 49 62


Classifications:



Characteristics (Orphanet epidemiological data):

49
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


External Ids:

Orphanet49 2591
ICD10 via Orphanet28 D21
UMLS via Orphanet63 C0432284

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/GeneDecks gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1hemangiopericytoma30.6ACTC1, VIM, DES
2fibromatosis30.5PDGFRB, ACTC1, VIM, DES
3fibrosarcoma30.4DES, VIM, ACTC1, PDGFRB
4myofibromatosis, infantile, 110.4
5myofibromatosis, infantile 210.3
6intussusception10.3
7hemochromatosis10.2
8hepatitis10.2
9rectal prolapse10.2
10congenital fibrosarcoma10.2
11choroiditis10.2
12myofibroma10.2
13cerebritis10.2
14mediastinitis10.2
15pancreatitis10.2
16neonatal hemochromatosis10.2
17fibromuscular dysplasia10.2
18aneurysm10.2
19gastric outlet obstruction10.2
20fasciitis10.0ACTC1
21adenomatoid tumor10.0VIM
22cutaneous fibrous histiocytoma10.0ACTC1, DES
23adenosarcoma10.0ACTC1, DES
24mesenchymal chondrosarcoma10.0VIM, DES
25embryonal rhabdomyosarcoma10.0ACTC1, DES
26alveolar soft-part sarcoma10.0DES, VIM
27sertoli cell tumor10.0VIM, DES
28granular cell tumor10.0VIM, DES
29sex cord-gonadal stromal tumor10.0VIM, DES
30myoepithelioma10.0ACTC1, VIM
31liposarcoma10.0VIM, DES
32angiosarcoma10.0ACTC1, VIM
33dilated cardiomyopathy10.0ACTC1, DES
34malignant peripheral nerve sheath tumor10.0ACTC1, VIM
35sarcoma, synovial10.0DES, VIM
36uterine sarcoma10.0PDGFRB, DES
37medulloblastoma10.0ACTC1, DES
38noonan syndrome 110.0ACTC1, DES
39malignant mixed mullerian tumor10.0PDGFRB, VIM
40epithelioid leiomyosarcoma10.0ACTC1, VIM, DES
41pseudosarcomatous fibromatosis10.0DES, VIM, ACTC1
42spindle cell carcinoma10.0ACTC1, VIM, DES
43spindle cell sarcoma10.0DES, VIM, ACTC1
44fibrous histiocytoma10.0DES, VIM, ACTC1
45rhabdoid tumor10.0DES, VIM, ACTC1
46angiomyolipoma10.0DES, VIM, ACTC1
47glomus tumor10.0DES, VIM, ACTC1
48fibroma10.0DES, VIM, ACTC1
49smooth muscle tumor10.0ACTC1, VIM, DES
50abrikosov's 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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Symptoms:

 49 (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 24)
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 abnormality of the intestine typical (50%) HP:0002242
11 neoplasm of the lung typical (50%) HP:0100526
12 abnormality of the kidney occasional (7.5%) HP:0000077
13 abnormality of the eye occasional (7.5%) HP:0000478
14 limitation of joint mobility occasional (7.5%) HP:0001376
15 tracheoesophageal fistula occasional (7.5%) HP:0002575
16 osteolysis occasional (7.5%) HP:0002797
17 neoplasm of the pancreas occasional (7.5%) HP:0002894
18 hypercalcemia occasional (7.5%) HP:0003072
19 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
20 abnormality of the sacrum occasional (7.5%) HP:0005107
21 intestinal obstruction occasional (7.5%) HP:0005214
22 irregular hyperpigmentation occasional (7.5%) HP:0007400
23 benign neoplasm of the central nervous system occasional (7.5%) HP:0100835
24 skin ulcer occasional (7.5%) HP:0200042

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:

33
Bone, Skin, Lung, Eye, Kidney, Pancreas, Colon, Brain, Spinal cord, Smooth muscle, Ovary, Tongue

Animal Models for Infantile Myofibromatosis or affiliated genes

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MGI Mouse Phenotypes related to Infantile Myofibromatosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.2NOTCH3, PDGFRB, ACTC1, VIM
2MP:00053847.9VIM, 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 179)
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
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 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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Clinvar genetic disease variations for Infantile Myofibromatosis:

7
id Gene Variation Type Significance SNP ID Assembly Location
1PDGFRBNM_002609.3(PDGFRB): c.1681C> T (p.Arg561Cys)single nucleotide variantPathogenicrs367543286GRCh37Chr 5, 149505134: 149505134
2PDGFRBNM_002609.3(PDGFRB): c.1978C> A (p.Pro660Thr)single nucleotide variantPathogenicrs144050370GRCh37Chr 5, 149503858: 149503858
3NOTCH3NM_000435.2(NOTCH3): c.4556T> C (p.Leu1519Pro)single nucleotide variantPathogenicrs367543285GRCh37Chr 19, 15285059: 15285059

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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5NOTCH3, PDGFRB
2
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.3VIM, DES
3
Show member pathways
Signaling by Aurora kinases38
Aurora C signaling38
9.3VIM, DES
4
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.0ACTC1, DES
59.0VIM, PDGFRB, NOTCH3
6
Show member pathways
8.5ACTC1, VIM, DES
78.5DES, VIM, ACTC1
8
Show member pathways
8.4NOTCH3, 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
1guanosine45 26 1311.8VIM, PDGFRB
2gefitinib45 51 1311.8PDGFRB, VIM
3toluidine459.7VIM, DES
4phalloidin459.7VIM, DES
5gemfibrozil30 45 1311.7VIM, DES
6sphingosine45 26 1311.7VIM, PDGFRB
7bezafibrate45 30 1311.7VIM, DES
8acetaldehyde30 45 2611.7VIM, DES
9dermatan sulfate459.7DES, VIM
10fenofibrate45 51 1311.6VIM, DES
11progestin459.6DES, VIM
12tgf beta1459.6PDGFRB, VIM
13azathioprine45 3 51 1312.6VIM, DES
142-methoxyethanol459.5ACTC1, VIM
15adriamycin459.5VIM, DES
16actomyosin459.5ACTC1, VIM
17dihydrotestosterone45 30 26 1312.4VIM, DES
18heparan sulfate45 2610.3VIM, DES
19ganglioside459.3PDGFRB, VIM, DES
20bromodeoxyuridine459.3DES, VIM, PDGFRB
21methionine459.3PDGFRB, VIM, DES
22hyaluronic acid45 2610.2VIM, DES
23proline459.2PDGFRB, VIM, DES
24inositol 1,4,5 trisphosphate459.2PDGFRB, VIM
25h2o2459.2PDGFRB, VIM, DES
26matrigel459.1VIM, ACTC1, PDGFRB
27arginine459.0NOTCH3, VIM, DES
28imatinib45 51 1311.0DES, ACTC1, PDGFRB
29orcein459.0ACTC1, VIM, DES
30s 100459.0ACTC1, VIM, DES
31reticulin459.0DES, VIM, ACTC1
32mucicarmine459.0ACTC1, VIM, DES
33b 723459.0ACTC1, VIM, DES
34hematoxylin458.9ACTC1, VIM, DES
35procollagen458.9DES, VIM, ACTC1
36biotin45 26 1310.9DES, VIM, ACTC1
37formaldehyde45 269.9ACTC1, VIM, DES
38glycogen45 269.9DES, VIM, ACTC1
39iron45 269.9DES, VIM, ACTC1
40creatinine458.8ACTC1, VIM, DES
41cysteine458.7NOTCH3, PDGFRB, VIM, DES
42oxygen45 269.7PDGFRB, ACTC1, DES
43glucose458.6DES, ACTC1, PDGFRB
44paraffin458.5DES, VIM, ACTC1, PDGFRB
45progesterone45 30 61 26 1312.5PDGFRB, ACTC1, VIM, DES
46testosterone45 61 26 1311.5PDGFRB, ACTC1, VIM, DES
47vegf458.5DES, VIM, ACTC1, PDGFRB
48estrogen458.5PDGFRB, ACTC1, VIM, DES
49retinoic acid45 269.5DES, VIM, ACTC1, PDGFRB
50calcium45 51 26 1311.3NOTCH3, 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:00058829.0VIM, DES
2cytosolGO:00058298.0NOTCH3, ACTC1, VIM, DES

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of smooth muscle cell proliferationGO:00486619.5NOTCH3, PDGFRB
2cardiac myofibril assemblyGO:00550038.9PDGFRB, ACTC1
3muscle filament slidingGO:00300498.4ACTC1, VIM, DES

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.3VIM, DES

Products for genes affiliated with Infantile Myofibromatosis

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Sources for Infantile Myofibromatosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet