MCID: INF049
MIFTS: 43

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, 27GTR, 31ICD10 via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Infantile Myofibromatosis:

Name: Infantile Myofibromatosis 11 48 54 27 50 13 68
 
Myofibromatosis 68

Characteristics:

Orphanet epidemiological data:

54
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
Orphanet54 ORPHA2591
ICD10 via Orphanet31 D48.1
UMLS via Orphanet69 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 Array, Array and Array. 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 cardiovascular system and muscle.

Wikipedia:71 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 109)
idRelated DiseaseScoreTop Affiliating Genes
1myofibromatosis, infantile, 111.6
2myofibromatosis, infantile 211.1
3mixed type rhabdomyosarcoma10.2DES, MB
4glaucoma iridogoniodysgenesia10.2DES, MB
5verruciform xanthoma of skin10.2DES, MB
6intrahepatic bile duct cystadenoma10.2DES, MB
7transitional cell carcinoma10.2DES, MB
8ovarian cystadenoma10.2DES, MB
9reticulohistiocytic granuloma10.2DES, MB
10bile duct rhabdomyosarcoma10.2DES, MB
11oral erosive lichen10.2ACTC1, DES
12extracutaneous mastocytoma10.2DES, MB
13carbon monoxide-induced parkinsonism10.2ACTC1, DES
14vagina leiomyosarcoma10.2ACTC1, DES
15bone deterioration disease10.2DES, MB
16rectal neoplasm10.2DES, MB
17episodic ataxia10.2ACTC1, DES
18inflammatory linear verrucous epidermal nevus10.2DES, VIM
19lymphomatous thyroiditis10.2DES, VIM
20pustulosis palmaris et plantaris10.2ACTC1, DES
21marfanoid hypermobility syndrome10.1DES, VIM
22orbital margin, hypoplasia of10.1MB, PDGFRB
23adult endodermal sinus tumor10.1DES, VIM
24biliary papillomatosis10.1DES, VIM
25tanycytic ependymoma10.1DES, VIM
26liver angiosarcoma10.1DES, VIM
27cavernous sinus meningioma10.1DES, VIM
28male reproductive system disease10.1DES, VIM
29house allergic alveolitis10.1ACTC1, DES
30petrous apex meningioma10.1DES, VIM
31vulvar squamous papilloma10.1DES, VIM
32van regemorter pierquin vamos syndrome10.1DES, MB, PDGFRB
33kosaki overgrowth syndrome10.1ACTC1, NOTCH3, PDGFRB
34anal gland neoplasm10.1DES, VIM
35lymphomatoid papulosis10.1ACTC1, VIM
36chest wall parachordoma10.1ACTC1, VIM
37tinea favosa10.1ACTC1, DES
38gamma heavy chain disease10.1CARMIL2, NDRG4, PDGFRB
39isolated anterior cervical hypertrichosis10.1ACTC1, VIM
40skin glomus tumor10.1DES, VIM
41bone dysplasia azouz type10.1ACTC1, NOTCH3
42congenital muscular dystrophy with hyperlaxity10.1DES, VIM
43conjunctival cancer10.1ACTC1, VIM
44testicular granulosa cell tumor10.1ACTC1, VIM
45lymphangiosarcoma10.0ACTC1, VIM
46hypogonadotropic hypogonadism-retinitis pigmentosa syndrome10.0ACTC1, VIM
47spindle cell rhabdomyosarcoma10.0ACTC1, DES, MB
48cauda equina intradural extramedullary astrocytoma10.0ACTC1, VIM
49fibromatosis10.0
50advanced sleep-phase syndrome, familial, 210.0DES, MB, VIM

Graphical network of the top 20 diseases related to Infantile Myofibromatosis:



Diseases related to infantile myofibromatosis

Symptoms & Phenotypes for Infantile Myofibromatosis

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Human phenotypes related to Infantile Myofibromatosis:

 54 64 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the kidney64 54 Occasional (29-5%) HP:0000077
2 gingival fibromatosis64 54 Frequent (79-30%) HP:0000169
3 abnormality of the face54 Frequent (79-30%)
4 abnormality of the eye64 54 Occasional (29-5%) HP:0000478
5 abnormality of the thorax64 54 Frequent (79-30%) HP:0000765
6 abnormality of the skull64 54 Frequent (79-30%) HP:0000929
7 chondrocalcinosis64 54 Frequent (79-30%) HP:0000934
8 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
9 limitation of joint mobility64 54 Occasional (29-5%) HP:0001376
10 subcutaneous nodule64 54 Very frequent (99-80%) HP:0001482
11 abnormality of the hair64 54 Frequent (79-30%) HP:0001595
12 abnormality of the intestine54 Frequent (79-30%)
13 tracheoesophageal fistula64 54 Occasional (29-5%) HP:0002575
14 osteolysis64 54 Occasional (29-5%) HP:0002797
15 neoplasm of the pancreas64 54 Occasional (29-5%) HP:0002894
16 abnormality of the musculature64 54 Very frequent (99-80%) HP:0003011
17 hypercalcemia64 54 Occasional (29-5%) HP:0003072
18 hemiplegia/hemiparesis64 54 Occasional (29-5%) HP:0004374
19 abnormality of the sacrum64 54 Occasional (29-5%) HP:0005107
20 intestinal obstruction64 54 Occasional (29-5%) HP:0005214
21 irregular hyperpigmentation64 54 Occasional (29-5%) HP:0007400
22 neoplasm of the skin64 54 Very frequent (99-80%) HP:0008069
23 fibroma54 Very frequent (99-80%)
24 bone cyst64 54 Very frequent (99-80%) HP:0012062
25 sarcoma54 Very frequent (99-80%)
26 neoplasm of the lung64 54 Frequent (79-30%) HP:0100526
27 benign neoplasm of the central nervous system64 54 Occasional (29-5%) HP:0100835
28 skin ulcer64 54 Occasional (29-5%) HP:0200042

MGI Mouse Phenotypes related to Infantile Myofibromatosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.1ACTC1, DES, MB, NOTCH3, NTRK3, PDGFRB
2MP:00053697.9ACTC1, DES, MB, NOTCH3, PDGFRB, VIM
3MP:00053867.5CARMIL2, DES, NDRG4, NOTCH3, NTRK3, PDGFRB

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 Myofibromatosis27

Anatomical Context for Infantile Myofibromatosis

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MalaCards organs/tissues related to Infantile Myofibromatosis:

36
Skin, Bone, Lung, Kidney, Eye, Pancreas, Uterus

Publications for Infantile Myofibromatosis

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Articles related to Infantile Myofibromatosis:

(show top 50)    (show all 193)
idTitleAuthorsYear
1
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares etA al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations. (28223207)
2017
2
Intracranial Infantile Myofibromatosis Mimicking Malignant Brain Tumor: A Case Report and Literature Review. (27373934)
2016
3
Extracalvarial Composite Infantile Myofibromatosis: Case Report and Literature Review. (28018804)
2016
4
Six Cases of Myofibroma--The Adult Counterpart of Infantile Myofibromatosis: Case Report. (26718074)
2016
5
An unusual cause of neonatal hip dislocation: Infantile myofibromatosis presenting as developmental dysplasia of the hip. (27646511)
2016
6
CD34-positive infantile myofibromatosis: Case report and review of hemangiopericytoma-like pattern tumors. (27074874)
2016
7
A case of advanced infantile myofibromatosis harboring a novel MYH10-RET fusion. (28028925)
2016
8
Generalized infantile myofibromatosis with a monophasic primitive pattern. (25989870)
2015
9
PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib. (26455322)
2015
10
Spontaneous Regression of an Infantile Scalp Tumor. Infantile myofibromatosis. (25692278)
2015
11
Infantile Myofibromatosis of the Soft Palate. (26080220)
2015
12
Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report. (26603035)
2015
13
Infantile myofibromatosis of uterus: A case report. (26905167)
2015
14
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis. (25241110)
2014
15
Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI. (22118778)
2014
16
Infantile myofibromatosis: a series of 28 cases. (24894456)
2014
17
Diagnosis of infantile myofibromatosis with pseudo-ulcerated plaque using prenatal ultrasound: A case report. (25371730)
2014
18
Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG? (25158255)
2014
19
Chemotherapy for Generalized Infantile Myofibromatosis With Visceral Involvement. (24608078)
2014
20
Vincristine and Dactinomycin in Infantile Myofibromatosis With a Review of Treatment Options. (25389917)
2014
21
Infantile myofibromatosis as an unusual cause for unilateral atelectasis in an infant. (24453022)
2014
22
Ulcerated congenital tumor. Solitary infantile myofibromatosis. (23375150)
2013
23
Congenital solitary infantile myofibromatosis involving the spinal cord. (23082913)
2013
24
Recurrent infantile myofibromatosis in a 19-month-old boy presenting as ulcerated plaque. (24517046)
2013
25
Solitary infantile myofibromatosis in the bones of the upper extremities: Two rare cases and a review of the literature. (24179532)
2013
26
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. (23731537)
2013
27
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. (23731542)
2013
28
Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. (23865785)
2013
29
Prenatal diagnosis of infantile myofibromatosis of the lung: a case report and review of the literature. (23686518)
2013
30
Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement. (23223874)
2012
31
Risk-adapted therapy for infantile myofibromatosis in children. (22038698)
2012
32
Multicentric infantile myofibromatosis of the small bowel detected by video capsule endoscopy in a child. (22814908)
2012
33
Isolated infantile myofibromatosis of the upper eyelid: uncommon localization and long-term results after surgical management. (22813815)
2012
34
Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance. (23217896)
2012
35
Stretched and sheared microcatheter retained after onyx embolization of infantile myofibromatosis. (21696669)
2011
36
Spontaneous remission of solitary-type infantile myofibromatosis. (21941483)
2011
37
Rapid spontaneous regression of multicentric infantile myofibromatosis in the posterior fossa and lumbar vertebra. (20949273)
2011
38
Infantile myofibromatosis: two families supporting autosomal dominant inheritance. (21834820)
2011
39
Solitary infantile myofibromatosis of the cranial vault: case report. (21279363)
2011
40
Development of renal and iliac aneurysms in a child with generalized infantile myofibromatosis. (19997940)
2010
41
Infantile myofibromatosis: report of nine patients. (20199406)
2010
42
A rare case of infantile myofibromatosis and review of literature. (19738495)
2010
43
Discrepant findings in a monoamniotic twin pregnancy affected by infantile myofibromatosis. (19306469)
2009
44
Multicentric non-visceral infantile myofibromatosis causing hip contracture. (19371302)
2009
45
First-line therapy of generalized infantile myofibromatosis with low-dose vinblastine and methotrexate. (18937326)
2009
46
Multicentric infantile myofibromatosis: a rare disorder of the calvarium. (19290463)
2009
47
Neonatal cases of infantile myofibromatosis do not derive from maternal cells transferred during pregnancy. (19416239)
2009
48
Giant recurrent infantile myofibromatosis of the leg in a 3 year-old. (19661669)
2009
49
Infantile myofibromatosis in a three-year-old boy presented as subdural hematoma. (19267113)
2008
50
Combined endoscopy-assisted cranionasal approach for resection of infantile myofibromatosis of the ethmoid and anterior skull base. Case report. (18590397)
2008

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.1998C> A (p.Asn666Lys)SNVPathogenic/ Likely pathogenicrs864309711GRCh38Chr 5, 150124275: 150124275
2PDGFRBNM_ 002609.3(PDGFRB): c.1681C> T (p.Arg561Cys)SNVPathogenicrs367543286GRCh37Chr 5, 149505134: 149505134
3PDGFRBNM_ 002609.3(PDGFRB): c.1978C> A (p.Pro660Thr)SNVPathogenicrs144050370GRCh37Chr 5, 149503858: 149503858
4NOTCH3NM_ 000435.2(NOTCH3): c.4556T> C (p.Leu1519Pro)SNVPathogenicrs367543285GRCh37Chr 19, 15285059: 15285059

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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Pathways related to Infantile Myofibromatosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7NTRK3, PDGFRB
2
Show member pathways
9.5DES, VIM
3
Show member pathways
9.5NDRG4, NOTCH3, PDGFRB
49.0ACTC1, 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
1cell leading edgeGO:00312529.5CARMIL2, VIM
2intermediate filament cytoskeletonGO:00451119.3CARMIL2, DES

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

idNameGO IDScoreTop Affiliating Genes
1cardiac myofibril assemblyGO:005500310.3ACTC1, PDGFRB
2intermediate filament organizationGO:004510910.1DES, VIM
3muscle filament slidingGO:00300499.6ACTC1, DES, VIM
4positive regulation of cell migrationGO:00303359.4CARMIL2, NTRK3, PDGFRB
5transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.2NTRK3, PDGFRB, PTPRG

Sources for Infantile Myofibromatosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet