MCID: INF049
MIFTS: 44

Infantile Myofibromatosis malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Infantile Myofibromatosis

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Infantile Myofibromatosis:

Name: Infantile Myofibromatosis 11 46 13 52 25 48 66

Characteristics:

Orphanet epidemiological data:

52
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

Classifications:



External Ids:

Disease Ontology11 DOID:0080109
Orphanet52 ORPHA2591
ICD10 via Orphanet29 D48.1
UMLS via Orphanet67 C0432284

Summaries for Infantile Myofibromatosis

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Disease Ontology:11 A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.

MalaCards based summary: Infantile Myofibromatosis is related to myofibromatosis, infantile, 1 and harding ataxia, 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), and among its related pathways are Angiogenesis (CST) and Aurora B signaling. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are muscle and cardiovascular system.

Wikipedia:69 Infantile myofibromatosis (also known as \"Congenital generalized fibromatosis,\" and \"Congenital... more...

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 Suite gene sharing:

(show top 50)    (show all 98)
idRelated DiseaseScoreTop Affiliating Genes
1myofibromatosis, infantile, 111.4
2harding ataxia10.3DES, VIM
3lymphocytic vasculitis10.3DES, VIM
4pancreatic delta cell neoplasm10.3DES, VIM
5anterograde amnesia10.3DES, VIM
6monophasic synovial sarcoma10.3DES, VIM
7bartholin's gland benign neoplasm10.3DES, VIM
8malignant adenofibroma10.3DES, VIM
9xq12-q13.3 duplication syndrome10.3ACTC1, DES
10sclerosing liposarcoma10.3DES, VIM
11myofibromatosis, infantile 210.2
12angora hair nevus10.2DES, VIM
13intravascular fasciitis10.2ACTC1, DES
14hemangiopericytoma10.2
15gangliocytoma10.2DES, VIM
16skene gland carcinoma10.2DES, VIM
17emerinopathy10.2DES, VIM
18lymphangiomatosis10.2ACTC1, VIM
19myxoid liposarcoma of the ovary10.2ACTC1, VIM
20pura syndrome10.2ACTC1, DES
21iridogoniodysgenesis and skeletal anomalies10.2ACTC1, VIM
22pleuropulmonary blastoma type 210.2ACTC1, DES
23fibrosing mediastinitis10.2DES, VIM
24fibromatosis10.1
25skin sarcoma10.1ACTC1, VIM
26retroperitoneal germ cell neoplasm10.1PDGFRB, VIM
27vulvar alveolar soft part sarcoma10.1ACTC1, VIM
28eccrine papillary adenoma10.1ACTC1, VIM
29parovarian cyst10.1ACTC1, DES
30malignant peritoneal solitary fibrous tumor10.1ACTC1, VIM
31pineal parenchymal tumor of intermediate differenciation10.1ACTC1, VIM
32central cloudy dystrophy of francois10.1MB, PDGFRB
33ovarian cystadenocarcinoma10.1ACTC1, VIM
34vascular hemostatic disease10.1ACTC1, VIM
35premature aging syndrome, penttinen type10.1ACTC1, NOTCH3, PDGFRB
36fibrosarcoma10.1
37myofibroma10.1
38intussusception10.1
39fibromuscular dysplasia10.1
40paranasal sinus cancer, adult10.0ACTC1, VIM
41testis sarcoma10.0DES, MB
42geleophysic dwarfism10.0DES, MB
43cerebrovascular disease10.0DES, MB
44transitional papilloma10.0DES, MB
45subacute leukemia10.0DES, MB
46soft tissue peripheral neuroepithelioma10.0DES, MB
47dens in dente and palatal invaginations10.0ACTC1, VIM
48prostate rhabdomyosarcoma10.0DES, MB
49intraocular retinoblastoma10.0DES, MB
50polyomavirus allograft nephropathy10.0ACTC1, VIM

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:

 52 (show all 28)
  • abnormality of the kidney
  • gingival fibromatosis
  • abnormality of the face
  • abnormality of the eye
  • abnormality of the thorax
  • abnormality of the skull
  • chondrocalcinosis
  • abnormality of the metaphyses
  • limitation of joint mobility
  • subcutaneous nodule
  • abnormality of the hair
  • abnormality of the intestine
  • tracheoesophageal fistula
  • osteolysis
  • neoplasm of the pancreas
  • abnormality of the musculature
  • hypercalcemia
  • hemiplegia/hemiparesis
  • abnormality of the sacrum
  • intestinal obstruction
  • irregular hyperpigmentation
  • neoplasm of the skin
  • fibroma
  • bone cyst
  • sarcoma
  • neoplasm of the lung
  • benign neoplasm of the central nervous system
  • skin ulcer

HPO human phenotypes related to Infantile Myofibromatosis:

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

Drugs & Therapeutics for Infantile Myofibromatosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Infantile Myofibromatosis

Genetic Tests for Infantile Myofibromatosis

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Genetic tests related to Infantile Myofibromatosis:

id Genetic test Affiliating Genes
1 Infantile Myofibromatosis25

Anatomical Context for Infantile Myofibromatosis

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MalaCards organs/tissues related to Infantile Myofibromatosis:

34
Skin, Bone, Lung, Kidney, Eye, Pancreas, Uterus

Animal Models for Infantile Myofibromatosis or affiliated genes

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MGI Mouse Phenotypes related to Infantile Myofibromatosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.5ACTC1, DES, MB, NOTCH3, PDGFRB, VIM
2MP:00053857.1ACTC1, DES, MB, NOTCH3, PDGFRB, VIM
3MP:00053847.1ACTC1, DES, MB, NOTCH3, PDGFRB, PMS2
4MP:00053766.5ACTC1, DES, MB, NDRG4, NOTCH3, PDGFRB

Publications for Infantile Myofibromatosis

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Articles related to Infantile Myofibromatosis:

(show top 50)    (show all 191)
idTitleAuthorsYear
1
Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report. (26603035)
2015
2
Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI. (22118778)
2014
3
Infantile myofibromatosis as an unusual cause for unilateral atelectasis in an infant. (24453022)
2014
4
Infantile myofibromatosis: a series of 28 cases. (24894456)
2014
5
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. (23731537)
2013
6
Prenatal diagnosis of infantile myofibromatosis of the lung: a case report and review of the literature. (23686518)
2013
7
Recurrent infantile myofibromatosis in a 19-month-old boy presenting as ulcerated plaque. (24517046)
2013
8
Ulcerated congenital tumor. Solitary infantile myofibromatosis. (23375150)
2013
9
Risk-adapted therapy for infantile myofibromatosis in children. (22038698)
2012
10
Multicentric infantile myofibromatosis of the small bowel detected by video capsule endoscopy in a child. (22814908)
2012
11
Solitary infantile myofibromatosis of the cranial vault: case report. (21279363)
2011
12
First-line therapy of generalized infantile myofibromatosis with low-dose vinblastine and methotrexate. (18937326)
2009
13
Discrepant findings in a monoamniotic twin pregnancy affected by infantile myofibromatosis. (19306469)
2009
14
Solitary infantile myofibromatosis (myofibroma) of the skull: a case presentation and histopathological differential diagnosis. (18549297)
2008
15
Multicentric infantile myofibromatosis: two perinatal cases. (17186271)
2007
16
An historic perspective of infantile myofibromatosis. (17249306)
2006
17
A newborn with multiple fractures as first presentation of infantile myofibromatosis. (17006529)
2006
18
Multifocal infantile myofibromatosis and generalized fibromuscular dysplasia in a child: evidence for a common pathologic process? (15455480)
2004
19
Successful treatment of life-threatening generalized infantile myofibromatosis using low-dose chemotherapy. (12972815)
2003
20
Quiz case. Congenital infantile myofibromatosis. Diaphragmatic and skeletal involvement but no visceral changes. (12127215)
2002
21
Infantile myofibromatosis. (12014771)
2001
22
Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report. (11196755)
2000
23
Solitary form of infantile myofibromatosis: a histologic, immunohistochemical, and electronmicroscopic study of a regressing tumor over a 20-month period. (10446781)
1999
24
Solitary infantile myofibromatosis involving the clavicle. (10486019)
1999
25
Infantile myofibromatosis: a case study and review of literature. (10535254)
1999
26
Infantile myofibromatosis identified by fetal ultrasound. (10233284)
1999
27
Spinal canal involvement in infantile myofibromatosis: case report and review of the literature. (9703012)
1998
28
Generalized infantile myofibromatosis in a patient with Turner's syndrome: a trial of interferon-alpha. (9821432)
1998
29
Periorbital solitary-type infantile myofibromatosis. (9027683)
1997
30
Infantile myofibromatosis of orbital bone. A case report with computed tomography, magnetic resonance imaging, and histologic findings. (9307643)
1997
31
Infantile myofibromatosis: a case with unusual features and review of the literature. (8993185)
1996
32
Are infantile myofibromatosis, congenital fibrosarcoma and congenital haemangiopericytoma histogenetically related? (7713484)
1995
33
Solitary infantile myofibromatosis of the skull. (7793367)
1995
34
Massive apoptosis in infantile myofibromatosis. A putative mechanism of tumor regression. (8129033)
1994
35
Intracranial infantile myofibromatosis. (7931587)
1994
36
Infantile hemangiopericytoma versus infantile myofibromatosis. Study of a series suggesting a continuous spectrum of infantile myofibroblastic lesions. (8067513)
1994
37
Infantile myofibromatosis: a radiological review. (8332406)
1993
38
Infantile myofibromatosis: an unusual presentation and a review of the literature. (8353122)
1993
39
Infantile myofibromatosis of the temporal bone: a case report. (2012194)
1991
40
CT of infantile myofibromatosis of the orbit with intracranial involvement: a case report. (1899509)
1991
41
Major malformations in a case of infantile myofibromatosis. (2303073)
1990
42
Infantile myofibromatosis with a solitary lesion in the skull--case report. (1697046)
1990
43
Gastrointestinal multicentric infantile myofibromatosis: characteristic histology on rectal biopsy. (2672792)
1989
44
Congenital multiple fibromatosis (infantile myofibromatosis). (3337781)
1988
45
Infantile myofibromatosis of omentum. (3376593)
1988
46
Radiological case of the month. Infantile myofibromatosis. (3381784)
1988
47
Collagen biosynthesis in a case of infantile myofibromatosis. (3402159)
1988
48
Infantile myofibromatosis. (4069869)
1985
49
Infantile myofibromatosis. Evidence for an autosomal-dominant disorder. (6742314)
1984
50
Infantile myofibromatosis--a solitary lesion. A case report. (6623250)
1983

Variations for Infantile Myofibromatosis

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Cosmic variations for Infantile Myofibromatosis:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM584NRASskin,neck,benign melanocytic nevus,congenitalc.182A>Gp.Q61R0

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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4NDRG4, NOTCH3, PDGFRB
2
Show member pathways
9.3DES, VIM
39.2NOTCH3, PDGFRB, VIM
48.5ACTC1, DES, VIM
58.5ACTC1, DES, VIM

GO Terms for genes affiliated with Infantile Myofibromatosis

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Cellular components related to Infantile Myofibromatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeletonGO:00451119.8DES, VIM
2extracellular exosomeGO:00700627.4ACTC1, DES, MB, PDGFRB, PTPRG, VIM

Biological processes related to Infantile Myofibromatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to hydrogen peroxideGO:00425429.8MB, PDGFRB
2cardiac myofibril assemblyGO:00550039.5ACTC1, PDGFRB
3negative regulation of neuron projection developmentGO:00109779.5PTPRG, VIM
4intermediate filament organizationGO:00451099.2DES, VIM
5muscle filament slidingGO:00300498.2ACTC1, DES, VIM

Sources for Infantile Myofibromatosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet