MCID: INF049
MIFTS: 40

Infantile Myofibromatosis malady

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

Aliases & Classifications for Infantile Myofibromatosis

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Sources:
45NIH Rare Diseases, 47Novoseek, 51Orphanet, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Infantile Myofibromatosis:

Name: Infantile Myofibromatosis 45 47 51 65


Classifications:



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


External Ids:

Orphanet51 2591
UMLS via Orphanet66 C0432284
ICD10 via Orphanet28 D21

Summaries for Infantile Myofibromatosis

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MalaCards based summary: Infantile Myofibromatosis is related to myofibromatosis, infantile, 1 and hemangiopericytoma, 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 Aurora B signaling and MicroRNAs in cancer. Affiliated tissues include bone, skin and lung, and related mouse phenotypes are muscle and cardiovascular system.

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 122)
idRelated DiseaseScoreTop Affiliating Genes
1myofibromatosis, infantile, 130.9NOTCH3, PDGFRB
2hemangiopericytoma10.4
3fibromatosis10.4
4myofibromatosis, infantile 210.3
5intussusception10.3
6fibrosarcoma10.3
7spigelian hernia-cryptorchidism syndrome10.2ACTC1, DES
8necrotizing fasciitis10.2ACTC1, DES
9infantile free sialic acid storage disease10.2DES, VIM
10lymphatic neoplasm10.2DES, VIM
11pulmonary venous return anomaly10.2ACTC1, DES
12esophageal disease10.2DES, VIM
13absence of fingerprints congenital milia10.2DES, VIM
14lymphangiomatosis10.2ACTC1, VIM
15malignant teratocarcinosarcoma10.2DES, VIM
16epithelioid cell synovial sarcoma10.2DES, VIM
17gastric signet ring cell adenocarcinoma10.2ACTC1, VIM
18uterine corpus serous adenocarcinoma10.2DES, VIM
19autosomal dominant charcot-marie-tooth disease type 2a210.2ACTC1, DES
20iodine antenatal infection10.2ACTC1, VIM
21spindle cell liposarcoma10.2DES, VIM
22hemochromatosis10.2
23hepatitis10.2
24choroiditis10.2
25rectal prolapse10.2
26congenital fibrosarcoma10.2
27myofibroma10.2
28cerebritis10.2
29mediastinitis10.2
30pancreatitis10.2
31neonatal hemochromatosis10.2
32fibromuscular dysplasia10.2
33aneurysm10.2
34pancreatic colloid cystadenoma10.2DES, VIM
35familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement10.2ACTC1, VIM
36paralytic poliomyelitis10.2ACTC1, VIM
37vulvar syringoma10.2DES, VIM
38basal cell carcinoma 710.2ACTC1, VIM
39pediatric cns choriocarcinoma10.2ACTC1, VIM
40familial syringomyelia10.2DES, VIM
41hand dermatosis10.2ACTC1, VIM
42mesenchymoma10.2DES, VIM
43adenoma10.2ACTC1, VIM
44multilocular cystic renal cell carcinoma10.2ACTC1, VIM
45cervical verrucous carcinoma10.2DES, VIM
46prostate adenoid cystic carcinoma10.2ACTC1, VIM
47dendritic cell thymoma10.2ACTC1, VIM
48embryonal tumor with multilayered rosettes10.2DES, VIM
49uterine corpus adenocarcinofibroma10.2DES, VIM
50non-proliferative fibrocystic change of the breast10.2ACTC1, DES

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, Eye, Pancreas, Kidney, 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:00053697.7ACTC1, DES, MB, NOTCH3, PDGFRB, VIM
2MP:00053857.6ACTC1, DES, MB, NOTCH3, PDGFRB, VIM
3MP:00053766.9ACTC1, DES, MB, NDRG4, NOTCH3, PDGFRB

Publications for Infantile Myofibromatosis

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Articles related to Infantile Myofibromatosis:

(show top 50)    (show all 184)
idTitleAuthorsYear
1
Generalized infantile myofibromatosis with a monophasic primitive pattern. (25989870)
2015
2
Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI. (22118778)
2014
3
Diagnosis of infantile myofibromatosis with pseudo-ulcerated plaque using prenatal ultrasound: A case report. (25371730)
2014
4
Infantile myofibromatosis as an unusual cause for unilateral atelectasis in an infant. (24453022)
2014
5
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. (23731537)
2013
6
Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. (23865785)
2013
7
Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement. (23223874)
2012
8
Risk-adapted therapy for infantile myofibromatosis in children. (22038698)
2012
9
Rapid spontaneous regression of multicentric infantile myofibromatosis in the posterior fossa and lumbar vertebra. (20949273)
2011
10
Solitary infantile myofibromatosis of the cranial vault: case report. (21279363)
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
Infantile myofibromatosis: support for autosomal dominant inheritance. (12894106)
2003
22
Infantile myofibromatosis of the central nervous system. (12720031)
2003
23
Use of 2-chlorodeoxyadenosine to treat infantile myofibromatosis. (11902743)
2002
24
Magnetic resonance imaging assessment of infantile myofibromatosis. (11798206)
2002
25
Quiz case. Congenital infantile myofibromatosis. Diaphragmatic and skeletal involvement but no visceral changes. (12127215)
2002
26
Intracranial infantile myofibromatosis with intraparenchymal involvement. (12006757)
2002
27
Infantile myofibromatosis: case report of a solitary hand lesion with emphasis on differential diagnosis and management. (11192039)
2001
28
Four half-siblings with infantile myofibromatosis: a case for autosomal-recessive inheritance. (11260217)
2001
29
Self-healing generalized infantile myofibromatosis with elevated urinary bFGF. (11576403)
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:

5
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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5DES, VIM
29.2NOTCH3, PDGFRB, VIM
39.1ACTC1, DES, VIM
4
Show member pathways
9.1ACTC1, DES, VIM
5
Angiogenesis (CST)
Show member pathways
8.9ACTC1, 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
1focal adhesionGO:00059259.5ACTC1, PDGFRB, VIM
2extracellular exosomeGO:00700627.6ACTC1, DES, MB, PDGFRB, PTPRG, VIM

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

idNameGO IDScoreTop Affiliating Genes
1cardiac myofibril assemblyGO:00550039.9ACTC1, PDGFRB
2positive regulation of smooth muscle cell proliferationGO:00486619.5NOTCH3, PDGFRB
3response to hydrogen peroxideGO:00425429.4MB, PDGFRB
4muscle filament slidingGO:00300499.1ACTC1, DES, 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