MCID: INF049
MIFTS: 42

Infantile Myofibromatosis malady

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

Aliases & Classifications for Infantile Myofibromatosis

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Infantile Myofibromatosis:

Name: Infantile Myofibromatosis 10 45 47 51 24 65

Characteristics:

Orphanet epidemiological data:

51
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 Ontology10 DOID:0080109
Orphanet51 2591
ICD10 via Orphanet28 D48.1
UMLS via Orphanet66 C0432284
UMLS65 C0432284

Summaries for Infantile Myofibromatosis

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Disease Ontology:10 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 premature aging syndrome, penttinen type, 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 Aurora B signaling and MicroRNAs in cancer. Affiliated tissues include bone, skin and lung, and related mouse phenotypes are cardiovascular system and muscle.

Wikipedia:68 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 68)
idRelated DiseaseScoreTop Affiliating Genes
1myofibromatosis, infantile, 111.4
2premature aging syndrome, penttinen type10.3NOTCH3, PDGFRB
3pulmonary venous return anomaly10.3ACTC1, DES
4uveal diseases10.3DES, PDGFRB
5benign deep fibrous histiocytoma10.3ACTC1, DES
6thymus lipoma10.3ACTC1, DES
7proliferative fasciitis10.2ACTC1, DES
8myofibromatosis, infantile 210.2
9hemangiopericytoma10.2
10gingival hypertrophy10.2DES, VIM
11malignant teratocarcinosarcoma10.2DES, VIM
12autosomal dominant charcot-marie-tooth disease type 2a210.2ACTC1, DES
13spindle cell variant squamous cell breast carcinoma10.2DES, VIM
14birdshot chorioretinopathy10.2ACTC1, NOTCH3
15absence of fingerprints congenital milia10.1ACTC1, VIM
16vulvar angiokeratoma10.1DES, VIM
17fibromatosis10.1
18familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement10.1ACTC1, VIM
19transverse vaginal septum10.1ACTC1, DES
20uterine corpus adenocarcinofibroma10.1DES, VIM
21ovarian mucinous cystadenocarcinoma10.1ACTC1, VIM
2246xy sex reversal 510.1DES, VIM
23fibrosarcoma10.1
24myofibroma10.1
25intussusception10.1
26fibromuscular dysplasia10.1
27renal tubular acidosis, distal, autosomal recessive10.0DES, VIM
28eosinophilic pneumonia10.0PDGFRB, VIM
29desmoplastic infantile astrocytoma10.0ACTC1, DES, PDGFRB
30myoclonic cerebellar dyssynergia10.0ACTC1, DES
31cellular schwannoma9.9DES, VIM
32hemochromatosis9.9
33hepatitis9.9
34choroiditis9.9
35dermoid cyst9.9
36cerebritis9.9
37pancreatitis9.9
38mediastinitis9.9
39congenital fibrosarcoma9.9
40rectal prolapse9.9
41neonatal hemochromatosis9.9
42aneurysm9.9
43hypothyroidism due to deficient transcription factors involved in pituitary development or function9.8ACTC1, PDGFRB, VIM
44esophageal lipoma9.8ACTC1, DES, VIM
45benign multicystic peritoneal mesothelioma9.8ACTC1, DES, VIM
46benign mesothelioma9.8ACTC1, DES, VIM
47adult mesoblastic nephroma9.8ACTC1, DES, VIM
48iris spindle cell melanoma9.8ACTC1, DES, VIM
49pulmonary immaturity9.8ACTC1, DES, VIM
50epidermal appendage tumor9.8ACTC1, DES, 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:

 51 (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 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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Anatomical Context for Infantile Myofibromatosis

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MalaCards organs/tissues related to Infantile Myofibromatosis:

33
Bone, Skin, Lung, Kidney, Pancreas, Eye, Colon

Animal Models for Infantile Myofibromatosis or affiliated genes

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MGI Mouse Phenotypes related to Infantile Myofibromatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.9ACTC1, DES, NOTCH3, PDGFRB, VIM
2MP:00053697.6ACTC1, DES, NOTCH3, PDGFRB, VIM
3MP:00053767.3ACTC1, DES, NDRG4, NOTCH3, PDGFRB, VIM

Publications for Infantile Myofibromatosis

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Articles related to Infantile Myofibromatosis:

(show top 50)    (show all 189)
idTitleAuthorsYear
1
Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report. (26603035)
2015
2
Generalized infantile myofibromatosis with a monophasic primitive pattern. (25989870)
2015
3
Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI. (22118778)
2014
4
Diagnosis of infantile myofibromatosis with pseudo-ulcerated plaque using prenatal ultrasound: A case report. (25371730)
2014
5
Infantile myofibromatosis as an unusual cause for unilateral atelectasis in an infant. (24453022)
2014
6
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. (23731537)
2013
7
Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. (23865785)
2013
8
Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement. (23223874)
2012
9
Risk-adapted therapy for infantile myofibromatosis in children. (22038698)
2012
10
Rapid spontaneous regression of multicentric infantile myofibromatosis in the posterior fossa and lumbar vertebra. (20949273)
2011
11
Infantile myofibromatosis: report of nine patients. (20199406)
2010
12
Development of renal and iliac aneurysms in a child with generalized infantile myofibromatosis. (19997940)
2010
13
Infantile myofibromatosis of the craniovertebral junction. (18661320)
2008
14
An unusual mesenchymal tumor of the skull: infantile myofibromatosis. (18230938)
2008
15
Infantile myofibromatosis of the scrotum. (18086598)
2008
16
Morphologic Overlap between Infantile Myofibromatosis and Infantile Fibrosarcoma: A Pitfall in Diagnosis. (19006426)
2008
17
Multicentric infantile myofibromatosis: two perinatal cases. (17186271)
2007
18
Pathology quiz case 1. Infantile myofibromatosis. (17576917)
2007
19
Successful treatment of relapsed multifocal nonvisceral infantile myofibromatosis. (16251175)
2005
20
Infantile myofibromatosis with multiple congenital anomalies. (15916589)
2005
21
Autosomal dominant inheritance of infantile myofibromatosis. (15054839)
2004
22
Infantile myofibromatosis: support for autosomal dominant inheritance. (12894106)
2003
23
Infantile myofibromatosis of the central nervous system. (12720031)
2003
24
Use of 2-chlorodeoxyadenosine to treat infantile myofibromatosis. (11902743)
2002
25
Magnetic resonance imaging assessment of infantile myofibromatosis. (11798206)
2002
26
Quiz case. Congenital infantile myofibromatosis. Diaphragmatic and skeletal involvement but no visceral changes. (12127215)
2002
27
Intracranial infantile myofibromatosis with intraparenchymal involvement. (12006757)
2002
28
Infantile myofibromatosis: case report of a solitary hand lesion with emphasis on differential diagnosis and management. (11192039)
2001
29
Four half-siblings with infantile myofibromatosis: a case for autosomal-recessive inheritance. (11260217)
2001
30
Self-healing generalized infantile myofibromatosis with elevated urinary bFGF. (11576403)
2001
31
Solitary infantile myofibromatosis in the femur. (10792791)
2000
32
Solitary form of infantile myofibromatosis: a histologic, immunohistochemical, and electronmicroscopic study of a regressing tumor over a 20-month period. (10446781)
1999
33
Solitary infantile myofibromatosis involving the clavicle. (10486019)
1999
34
Spinal canal involvement in infantile myofibromatosis: case report and review of the literature. (9703012)
1998
35
Generalized infantile myofibromatosis in a patient with Turner's syndrome: a trial of interferon-alpha. (9821432)
1998
36
Periorbital solitary-type infantile myofibromatosis. (9027683)
1997
37
Infantile myofibromatosis. A case report. (8560612)
1995
38
Are infantile myofibromatosis, congenital fibrosarcoma and congenital haemangiopericytoma histogenetically related? (7713484)
1995
39
Massive apoptosis in infantile myofibromatosis. A putative mechanism of tumor regression. (8129033)
1994
40
Intracranial infantile myofibromatosis. (7931587)
1994
41
Infantile myofibromatosis--a review. (8061994)
1994
42
Infantile myofibromatosis: a radiological review. (8332406)
1993
43
Familial occurrence of infantile myofibromatosis. (1739928)
1992
44
Infantile myofibromatosis of the temporal bone: a case report. (2012194)
1991
45
Major malformations in a case of infantile myofibromatosis. (2303073)
1990
46
Gastrointestinal multicentric infantile myofibromatosis: characteristic histology on rectal biopsy. (2672792)
1989
47
Congenital multiple fibromatosis (infantile myofibromatosis). (3337781)
1988
48
Infantile myofibromatosis of omentum. (3376593)
1988
49
Infantile myofibromatosis: the most common fibrous tumor of infancy. (3385581)
1988
50
Solitary nodule on the arm of an infant. Infantile myofibromatosis (IM). (3942412)
1986

Variations for Infantile Myofibromatosis

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Cosmic variations for Infantile Myofibromatosis:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM584NRASskin,neck,benign melanocytic nevus,congenital3

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
9.2DES, VIM
28.9NOTCH3, PDGFRB, VIM
38.7ACTC1, 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:00451119.2DES, VIM

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

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:00300499.1ACTC1, VIM

Sources for Infantile Myofibromatosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet