MCID: INF049
MIFTS: 45

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, 13DISEASES, 26GTR, 30ICD10 via Orphanet, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Infantile Myofibromatosis:

Name: Infantile Myofibromatosis 11 47 53 26 49 13 67
 
Myofibromatosis 67

Characteristics:

Orphanet epidemiological data:

53
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
Orphanet53 ORPHA2591
ICD10 via Orphanet30 D48.1
UMLS via Orphanet68 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, also known as myofibromatosis, is related to myofibromatosis, infantile, 1 and myofibromatosis, infantile 2, 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 Alzheimers Disease Pathway and Aurora B signaling. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are behavior/neurological and vision/eye.

Wikipedia:70 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 96)
idRelated DiseaseScoreTop Affiliating Genes
1myofibromatosis, infantile, 111.6
2myofibromatosis, infantile 211.1
3testis sarcoma10.4DES, MB
4geleophysic dwarfism10.4DES, MB
5transitional papilloma10.4DES, MB
6subacute leukemia10.4DES, MB
7soft tissue peripheral neuroepithelioma10.4DES, MB
8prostate rhabdomyosarcoma10.4DES, MB
9central cloudy dystrophy of francois10.4MB, PDGFRB
10intraocular retinoblastoma10.4DES, MB
11harding ataxia10.4DES, VIM
12lymphocytic vasculitis10.3DES, VIM
13pancreatic delta cell neoplasm10.3DES, VIM
14anterograde amnesia10.3DES, VIM
15monophasic synovial sarcoma10.3DES, VIM
16bone remodeling disease10.3DES, MB
17bartholin's gland benign neoplasm10.3DES, VIM
18malignant adenofibroma10.3DES, VIM
19xq12-q13.3 duplication syndrome10.3ACTC1, DES
20sclerosing liposarcoma10.3DES, VIM
21intravascular fasciitis10.3ACTC1, DES
22angora hair nevus10.3DES, VIM
23gangliocytoma10.2DES, VIM
24omphalocele10.2DES, MB
25pediatric fibrosarcoma10.2MB, NTRK3
26emerinopathy10.2DES, VIM
27adult central nervous system primitive neuroectodermal neoplasm10.2DES, MB
28pura syndrome10.2ACTC1, DES
29pleuropulmonary blastoma type 210.2ACTC1, DES
30fibrosing mediastinitis10.2DES, VIM
31vulvar sebaceous carcinoma10.2DES, MB
32parovarian cyst10.1ACTC1, DES
33lymphangiomatosis10.1ACTC1, VIM
34myxoid liposarcoma of the ovary10.1ACTC1, VIM
35iridogoniodysgenesis and skeletal anomalies10.1ACTC1, VIM
36retroperitoneal germ cell neoplasm10.1PDGFRB, VIM
37follicular adenoma10.1MB, VIM
38skin sarcoma10.1ACTC1, VIM
39vulvar alveolar soft part sarcoma10.1ACTC1, VIM
40eccrine papillary adenoma10.1ACTC1, VIM
41premature aging syndrome, penttinen type10.1ACTC1, NOTCH3, PDGFRB
42malignant peritoneal solitary fibrous tumor10.1ACTC1, VIM
43pineal parenchymal tumor of intermediate differenciation10.0ACTC1, VIM
44ovarian cystadenocarcinoma10.0ACTC1, VIM
45fibromatosis10.0
46reactive arthritis10.0MB, VIM
47vascular hemostatic disease10.0ACTC1, VIM
48rhabdomyosarcoma 2, alveolar10.0DES, MB
49absence of fingerprints congenital milia10.0DES, MB, VIM
50paranasal sinus cancer, adult10.0ACTC1, 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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Human phenotypes related to Infantile Myofibromatosis:

 63 53 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphyses63 53 hallmark (90%) Very frequent (99-80%) HP:0000944
2 abnormality of the musculature63 53 hallmark (90%) Very frequent (99-80%) HP:0003011
3 neoplasm of the skeletal system63 hallmark (90%) HP:0010622
4 bone cyst63 53 hallmark (90%) Very frequent (99-80%) HP:0012062
5 sarcoma63 53 hallmark (90%) Very frequent (99-80%) HP:0100242
6 gingival overgrowth63 typical (50%) HP:0000212
7 abnormality of the thorax63 53 typical (50%) Frequent (79-30%) HP:0000765
8 abnormality of the skull63 53 typical (50%) Frequent (79-30%) HP:0000929
9 chondrocalcinosis63 53 typical (50%) Frequent (79-30%) HP:0000934
10 neoplasm of the lung63 53 typical (50%) Frequent (79-30%) HP:0100526
11 abnormality of the kidney63 53 occasional (7.5%) Occasional (29-5%) HP:0000077
12 abnormality of the eye63 53 occasional (7.5%) Occasional (29-5%) HP:0000478
13 limitation of joint mobility63 53 occasional (7.5%) Occasional (29-5%) HP:0001376
14 tracheoesophageal fistula63 53 occasional (7.5%) Occasional (29-5%) HP:0002575
15 osteolysis63 53 occasional (7.5%) Occasional (29-5%) HP:0002797
16 neoplasm of the pancreas63 53 occasional (7.5%) Occasional (29-5%) HP:0002894
17 hypercalcemia63 53 occasional (7.5%) Occasional (29-5%) HP:0003072
18 hemiplegia/hemiparesis63 53 occasional (7.5%) Occasional (29-5%) HP:0004374
19 abnormality of the sacrum63 53 occasional (7.5%) Occasional (29-5%) HP:0005107
20 intestinal obstruction63 53 occasional (7.5%) Occasional (29-5%) HP:0005214
21 irregular hyperpigmentation63 53 occasional (7.5%) Occasional (29-5%) HP:0007400
22 benign neoplasm of the central nervous system63 53 occasional (7.5%) Occasional (29-5%) HP:0100835
23 skin ulcer63 53 occasional (7.5%) Occasional (29-5%) HP:0200042
24 gingival fibromatosis53 Frequent (79-30%)
25 abnormality of the face53 Frequent (79-30%)
26 subcutaneous nodule53 Very frequent (99-80%)
27 abnormality of the hair53 Frequent (79-30%)
28 abnormality of the intestine53 Frequent (79-30%)
29 neoplasm of the skin53 Very frequent (99-80%)
30 fibroma53 Very frequent (99-80%)

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 Myofibromatosis26

Anatomical Context for Infantile Myofibromatosis

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MalaCards organs/tissues related to Infantile Myofibromatosis:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.0DES, MYH10, NDRG4, NOTCH3, NTRK3, PTPRG
2MP:00053918.0MYH10, NOTCH3, NTRK3, PDGFRB, VIM
3MP:00053847.9ACTC1, DES, MB, MYH10, NOTCH3, PDGFRB
4MP:00053697.8ACTC1, DES, MB, MYH10, NOTCH3, PDGFRB
5MP:00053767.5ACTC1, DES, MB, MYH10, NDRG4, NOTCH3
6MP:00053857.4ACTC1, DES, MB, MYH10, NOTCH3, NTRK3
7MP:00107687.3ACTC1, DES, MB, MYH10, NOTCH3, NTRK3

Publications for Infantile Myofibromatosis

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Articles related to Infantile Myofibromatosis:

(show top 50)    (show all 192)
idTitleAuthorsYear
1
Extracalvarial Composite Infantile Myofibromatosis: Case Report and Literature Review. (28018804)
2016
2
Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report. (26603035)
2015
3
Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI. (22118778)
2014
4
Infantile myofibromatosis as an unusual cause for unilateral atelectasis in an infant. (24453022)
2014
5
Infantile myofibromatosis: a series of 28 cases. (24894456)
2014
6
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. (23731537)
2013
7
Prenatal diagnosis of infantile myofibromatosis of the lung: a case report and review of the literature. (23686518)
2013
8
Recurrent infantile myofibromatosis in a 19-month-old boy presenting as ulcerated plaque. (24517046)
2013
9
Ulcerated congenital tumor. Solitary infantile myofibromatosis. (23375150)
2013
10
Risk-adapted therapy for infantile myofibromatosis in children. (22038698)
2012
11
Multicentric infantile myofibromatosis of the small bowel detected by video capsule endoscopy in a child. (22814908)
2012
12
Solitary infantile myofibromatosis of the cranial vault: case report. (21279363)
2011
13
First-line therapy of generalized infantile myofibromatosis with low-dose vinblastine and methotrexate. (18937326)
2009
14
Discrepant findings in a monoamniotic twin pregnancy affected by infantile myofibromatosis. (19306469)
2009
15
Solitary infantile myofibromatosis (myofibroma) of the skull: a case presentation and histopathological differential diagnosis. (18549297)
2008
16
Multicentric infantile myofibromatosis: two perinatal cases. (17186271)
2007
17
An historic perspective of infantile myofibromatosis. (17249306)
2006
18
A newborn with multiple fractures as first presentation of infantile myofibromatosis. (17006529)
2006
19
Multifocal infantile myofibromatosis and generalized fibromuscular dysplasia in a child: evidence for a common pathologic process? (15455480)
2004
20
Successful treatment of life-threatening generalized infantile myofibromatosis using low-dose chemotherapy. (12972815)
2003
21
Quiz case. Congenital infantile myofibromatosis. Diaphragmatic and skeletal involvement but no visceral changes. (12127215)
2002
22
Infantile myofibromatosis. (12014771)
2001
23
Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report. (11196755)
2000
24
Solitary form of infantile myofibromatosis: a histologic, immunohistochemical, and electronmicroscopic study of a regressing tumor over a 20-month period. (10446781)
1999
25
Solitary infantile myofibromatosis involving the clavicle. (10486019)
1999
26
Infantile myofibromatosis: a case study and review of literature. (10535254)
1999
27
Infantile myofibromatosis identified by fetal ultrasound. (10233284)
1999
28
Spinal canal involvement in infantile myofibromatosis: case report and review of the literature. (9703012)
1998
29
Generalized infantile myofibromatosis in a patient with Turner's syndrome: a trial of interferon-alpha. (9821432)
1998
30
Periorbital solitary-type infantile myofibromatosis. (9027683)
1997
31
Infantile myofibromatosis of orbital bone. A case report with computed tomography, magnetic resonance imaging, and histologic findings. (9307643)
1997
32
Infantile myofibromatosis: a case with unusual features and review of the literature. (8993185)
1996
33
Are infantile myofibromatosis, congenital fibrosarcoma and congenital haemangiopericytoma histogenetically related? (7713484)
1995
34
Solitary infantile myofibromatosis of the skull. (7793367)
1995
35
Massive apoptosis in infantile myofibromatosis. A putative mechanism of tumor regression. (8129033)
1994
36
Intracranial infantile myofibromatosis. (7931587)
1994
37
Infantile hemangiopericytoma versus infantile myofibromatosis. Study of a series suggesting a continuous spectrum of infantile myofibroblastic lesions. (8067513)
1994
38
Infantile myofibromatosis: a radiological review. (8332406)
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.Q61R3

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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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:004511110.0DES, VIM
2extracellular exosomeGO:00700627.0ACTC1, DES, MB, MYH10, PDGFRB, PTPRG

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:00451099.6DES, VIM
2negative regulation of neuron projection developmentGO:00109779.6PTPRG, VIM
3actin filament-based movementGO:00300489.6ACTC1, MYH10
4actomyosin structure organizationGO:00310329.4ACTC1, MYH10
5cardiac myofibril assemblyGO:00550039.1ACTC1, MYH10, PDGFRB
6muscle filament slidingGO:00300499.1ACTC1, DES, VIM
7heart developmentGO:00075078.6MB, MYH10, NTRK3
8brain developmentGO:00074208.6MYH10, NDRG4, PTPRG

Sources for Infantile Myofibromatosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet