MCID: INF049
MIFTS: 50

Infantile Myofibromatosis

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

Aliases & Classifications for Infantile Myofibromatosis

MalaCards integrated aliases for Infantile Myofibromatosis:

Name: Infantile Myofibromatosis 12 77 54 60 38 30 56 6 15 74
Myofibromatosis 74

Characteristics:

Orphanet epidemiological data:

60
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:



Summaries for Infantile Myofibromatosis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2591Disease definitionInfantile myofibromatosis (IM) is a rare benign soft tissuetumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts.EpidemiologyThe estimated prevalence is 1/150,000 live births.Clinical descriptionIM presents at birth or develops shortly thereafter, with 90% of cases occurring before the age of 2 years. IM is characterized by solitary or multiple nodules that are firm, flesh-colored to purple (myofibromes), and usually painless (except in case of compression of adjacent nerves). Tumors are located in the skin, subcutaneous tissue, striated muscles and in exceptional cases, visceral organs or bones. There are 4 patterns of clinical presentation: solitary (single lesion affecting the skin and/or muscles in the head, neck, or trunk (75% cases)); congenital multiple (multicentric limited to skin and muscles); congenital multiple with single visceral involvement; and congenital multiple with multiple visceral involvement (multiple lesions of skin and/or muscles, bones, lungs, heart and gastrointestinal tract).EtiologyMost of these tumors are sporadic and isolated. Rare familial cases of IM have been described and 2 genes have been identified as disease causing: PDGFRB and NOTCH3 which encode PDGFRB and NOTCH3 respectively. PDGFRB is a tyrosine kinase receptor for platelet derived growth factors which are mitogens for cells of mesenchymal origin. PDGFRB expression is up regulated by NOTCH3. This suggests that genetic defects in the 2 genes are involved in the same mechanism.Diagnostic methodsDiagnosis is based partly on family history and physical examination. Myofibromes are identified through ultrasound (mass with an anechoic center), MRI (low signal on T1-weighted imaging and high or low signal intensity areas on T2-weighted imaging) and less frequently CT (mass with peripheral enhancement and calcifications). Histopathology remains the gold standard for the diagnosis of IM. Biopsy reveals interlacing fascicles of spindle cells (myofibroblasts) in the periphery, forming nodules separated by collagen tissue with no nuclear atypia. Immunochemistry reveals vimentin and smooth muscle actin expression while vascular markers (S100 and CD34) are negative.Differential diagnosisDifferential diagnosis includes hemangioma, lymphangioma, neurofibroma, infantile fibrosarcoma, Langerhans cell histiocytosis, inflammatory myofibroblastic tumor, desmoid tumors (see these terms), and dermoid or epidermoid tumors.Antenatal diagnosisPrenatal diagnosis is achieved by ultrasound examination.Genetic counselingIM is mostly isolated and sporadic. In cases of familial and multifocal lesions, IM can be inherited as an autosomal recessive or dominant trait (incomplete penetrance and variable expressivity).Management and treatmentDue to the benignity of the lesion, therapies without long term effects are preferred. For lesions affecting the skin and/or muscles, treatment is not recommended and a wait-and-see policy is proposed (tendency towards spontaneous regression). Radical surgical excision is required if: vital organs are involved, lesions are in threatening sites, or lesions are symptomatic. In cases of incomplete resection, re-excision can be proposed later. Standard therapy is methotrexate and vinblastine and is indicated for multifocal progressive lesions. Other treatments such as IFN-alpha or conventional chemotherapy (vincristine, actinomycin D, and cyclophosphamide) should be kept for patients with rapid symptomatic progression because of the long-term risks of secondary malignancy development.PrognosisIn the majority of cases, which lack visceral involvement, prognosis is excellent and spontaneous regression is often observed. On the other hand, the presence of visceral lesions is associated with a significantly poor outcome and a mortality rate of up to 70%, in the absence of therapy. Death is generally related to organ compression and cardiopulmonary and gastrointestinal involvement.Visit the Orphanet disease page for more resources.

MalaCards based summary : Infantile Myofibromatosis, also known as myofibromatosis, is related to myofibromatosis, infantile, 1 and myofibroma. An important gene associated with Infantile Myofibromatosis is PDGFRB (Platelet Derived Growth Factor Receptor Beta), and among its related pathways/superpathways are Notch signaling pathway and PI3K-Akt signaling pathway. The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung, and related phenotypes are subcutaneous nodule and abnormality of the metaphysis

Disease Ontology : 12 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.

Wikipedia : 77 Infantile myofibromatosis is the most common fibrous tumor of infancy, in which eighty percent of... more...

Related Diseases for Infantile Myofibromatosis

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)
# Related Disease Score Top Affiliating Genes
1 myofibromatosis, infantile, 1 33.3 ACTC1 NOTCH3 PDGFRB
2 myofibroma 30.4 DES MB PDGFRB
3 fibrosarcoma 30.1 DES NTRK3 VIM
4 hemangiopericytoma, malignant 30.1 ACTC1 DES VIM
5 fibromatosis 30.0 ACTC1 DES VIM
6 congenital fibrosarcoma 29.4 ACTC1 DES NTRK3 VIM
7 myofibromatosis, infantile, 2 12.2
8 mesenchymoma 10.2 DES MB
9 giant cell myocarditis 10.2 DES MB
10 malignant triton tumor 10.2 DES MB
11 spindle cell rhabdomyosarcoma 10.2 DES MB
12 fibromuscular dysplasia 10.2
13 intussusception 10.2
14 bilateral retinoblastoma 10.2 DES MB
15 corneal dystrophy, subepithelial mucinous 10.2 MB PDGFRB
16 infantile digital fibromatosis 10.2 DES VIM
17 adenosarcoma 10.2 DES MB
18 lymphangiomatosis 10.2 DES VIM
19 primitive neuroectodermal tumor of the cervix uteri 10.1 DES VIM
20 epulis 10.1 DES VIM
21 biphasic synovial sarcoma 10.1 DES VIM
22 syringoma 10.1 DES VIM
23 cystic nephroma 10.1 DES VIM
24 juvenile xanthogranuloma 10.1 DES VIM
25 pleomorphic liposarcoma 10.1 DES VIM
26 desmoplastic small round cell tumor 10.1 DES VIM
27 connective tissue benign neoplasm 10.1 CARMIL2 NDRG4 PDGFRB
28 mesenchymal chondrosarcoma 10.1 DES VIM
29 extraskeletal ewing sarcoma 10.1 DES VIM
30 medullomyoblastoma 10.1 DES MB
31 granular cell tumor 10.1 DES VIM
32 adult fibrosarcoma 10.1 MB NTRK3
33 embryonal sarcoma 10.1 DES VIM
34 uterine sarcoma 10.1 DES MB PDGFRB
35 myopericytoma 10.0 ACTC1 PDGFRB
36 congenital epulis 10.0 DES VIM
37 pelvic organ prolapse 10.0
38 hemochromatosis, neonatal 10.0
39 hemochromatosis, type 1 10.0
40 autosomal dominant disease 10.0
41 dermoid cyst 10.0
42 leiomyomatosis 10.0
43 intravenous leiomyomatosis 10.0
44 juvenile hereditary hemochromatosis 10.0
45 chromosomal triplication 10.0
46 xp22.3 microdeletion syndrome 10.0
47 ovarian fibrothecoma 10.0 ACTC1 DES
48 muscle cancer 10.0 DES MB
49 fibroblastic rheumatism 10.0 ACTC1 DES
50 cutaneous leiomyosarcoma 10.0 ACTC1 DES

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



Diseases related to Infantile Myofibromatosis

Symptoms & Phenotypes for Infantile Myofibromatosis

Human phenotypes related to Infantile Myofibromatosis:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001482
2 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
3 abnormality of the musculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003011
4 neoplasm of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008069
5 bone cyst 60 33 hallmark (90%) Very frequent (99-80%) HP:0012062
6 abnormality of the thorax 60 33 frequent (33%) Frequent (79-30%) HP:0000765
7 abnormality of the skull 60 33 frequent (33%) Frequent (79-30%) HP:0000929
8 neoplasm of the lung 60 33 frequent (33%) Frequent (79-30%) HP:0100526
9 chondrocalcinosis 60 33 frequent (33%) Frequent (79-30%) HP:0000934
10 gingival fibromatosis 60 33 frequent (33%) Frequent (79-30%) HP:0000169
11 abnormal hair morphology 33 frequent (33%) HP:0001595
12 abnormality of the eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0000478
13 hemiplegia/hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004374
14 limitation of joint mobility 60 33 occasional (7.5%) Occasional (29-5%) HP:0001376
15 skin ulcer 60 33 occasional (7.5%) Occasional (29-5%) HP:0200042
16 intestinal obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0005214
17 abnormality of the kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000077
18 irregular hyperpigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007400
19 benign neoplasm of the central nervous system 60 33 occasional (7.5%) Occasional (29-5%) HP:0100835
20 hypercalcemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003072
21 tracheoesophageal fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0002575
22 osteolysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002797
23 neoplasm of the pancreas 60 33 occasional (7.5%) Occasional (29-5%) HP:0002894
24 abnormal sacrum morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0005107
25 abnormality of the face 60 Frequent (79-30%)
26 fibroma 60 Very frequent (99-80%)
27 sarcoma 60 Very frequent (99-80%)
28 abnormality of the hair 60 Frequent (79-30%)
29 abnormality of the intestine 60 Frequent (79-30%)

MGI Mouse Phenotypes related to Infantile Myofibromatosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 DES NDRG4 NOTCH3 NTRK3 PDGFRB PTPRG
2 cardiovascular system MP:0005385 9.7 ACTC1 DES MB NOTCH3 NTRK3 PDGFRB
3 homeostasis/metabolism MP:0005376 9.5 ACTC1 DES MB NDRG4 NOTCH3 PDGFRB
4 muscle MP:0005369 9.1 ACTC1 DES MB NOTCH3 PDGFRB VIM

Drugs & Therapeutics for Infantile Myofibromatosis

Drugs for Infantile Myofibromatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Oral LOXO-292 in Pediatric Patients With Advanced Solid or Primary Central Nervous System Tumors Recruiting NCT03899792 Phase 1, Phase 2 LOXO-292

Search NIH Clinical Center for Infantile Myofibromatosis

Genetic Tests for Infantile Myofibromatosis

Genetic tests related to Infantile Myofibromatosis:

# Genetic test Affiliating Genes
1 Infantile Myofibromatosis 30

Anatomical Context for Infantile Myofibromatosis

MalaCards organs/tissues related to Infantile Myofibromatosis:

42
Bone, Skin, Lung, Smooth Muscle, Heart, Kidney, Pancreas

Publications for Infantile Myofibromatosis

Articles related to Infantile Myofibromatosis:

(show top 50) (show all 256)
# Title Authors Year
1
Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature. ( 30103666 )
2019
2
Infantile myofibromatosis treated by mandibulectomy and staged reconstruction with submental flap and free fibula flap: a case report. ( 30871614 )
2019
3
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. ( 31004414 )
2019
4
Prenatal sonography of multicentric infantile myofibromatosis: Case report and review of the literature. ( 31070795 )
2019
5
Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis. ( 31017643 )
2019
6
Honeycomb appearance of fetal myofibromatosis. ( 29749081 )
2019
7
"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations. ( 28223207 )
2018
8
Effects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a PDGFRB Mutation Associated with Infantile Myofibromatosis. ( 30200486 )
2018
9
Infantile myofibromatosis: review of imaging findings and emphasis on correlation between MRI and histopathological findings. ( 30529421 )
2018
10
Agressive pediatric myofibromatosis in a two-year-old child. ( 29274401 )
2018
11
Myofibromatosis presenting as reticulated vascular changes and subcutaneous atrophy in a patient with somatic mosaicism of PDGFRB mutation. ( 29999524 )
2018
12
A case of advanced infantile myofibromatosis harboring a novel MYH10-RET fusion. ( 28028925 )
2017
13
Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene. ( 28183292 )
2017
14
The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence. ( 28286173 )
2017
15
PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis. ( 28334876 )
2017
16
A large mediastinal tumour invading into the liver with foetal hydrops: A rare case of infantile myofibromatosis. ( 28395635 )
2017
17
Whole-body magnetic resonance imaging in the diagnosis and follow-up of multicentric infantile myofibromatosis: A case report. ( 28413672 )
2017
18
Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis. ( 28417142 )
2017
19
Infantile myofibromatosis - a clinical and pathological diagnostic challenge. ( 28541875 )
2017
20
A Rare Case of Infantile Myofibromatosis Presenting to the Emergency Department as Undiagnosed Long Bone Fractures. ( 29095782 )
2017
21
Infantile myofibromatosis of the iliac bone. ( 29263742 )
2017
22
Infantile myofibromatosis. ( 29364448 )
2017
23
Myofibromatosis: Utility of fine needle aspiration cytology in the diagnosis of an underreported entity. ( 28182064 )
2017
24
An update on myofibromas and myofibromatosis affecting the oral regions with report of 24 new cases. ( 28522188 )
2017
25
PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib. ( 26455322 )
2016
26
Six Cases of Myofibroma--The Adult Counterpart of Infantile Myofibromatosis: Case Report. ( 26718074 )
2016
27
CD34-positive infantile myofibromatosis: Case report and review of hemangiopericytoma-like pattern tumors. ( 27074874 )
2016
28
Intracranial Infantile Myofibromatosis Mimicking Malignant Brain Tumor: A Case Report and Literature Review. ( 27373934 )
2016
29
An unusual cause of neonatal hip dislocation: infantile myofibromatosis presenting as developmental dysplasia of the hip. ( 27646511 )
2016
30
Extracalvarial Composite Infantile Myofibromatosis: Case Report and Literature Review. ( 28018804 )
2016
31
Multiple Bone Lesions in an 8-Month-Old Child Presenting with Pathologic Fracture: A Rare Case of Solely Osseous Multicentric Infantile Myofibromatosis. ( 29252675 )
2016
32
Multicentric myofibromatosis presenting as a large congenital eyelid myofibroma. ( 26917077 )
2016
33
Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report. ( 26603035 )
2015
34
Chemotherapy for Generalized Infantile Myofibromatosis With Visceral Involvement. ( 24608078 )
2015
35
Vincristine and Dactinomycin in Infantile Myofibromatosis With a Review of Treatment Options. ( 25389917 )
2015
36
Spontaneous Regression of an Infantile Scalp Tumor. Infantile myofibromatosis. ( 25692278 )
2015
37
Generalized infantile myofibromatosis with a monophasic primitive pattern. ( 25989870 )
2015
38
Infantile Myofibromatosis of the Soft Palate. ( 26080220 )
2015
39
Infantile myofibromatosis of uterus: A case report. ( 26905167 )
2015
40
A Rare Disorder Masquerading as Osteomyelitis. Diagnosis: Multicentric Myofibromatosis. ( 25601957 )
2015
41
Infantile myofibromatosis as an unusual cause for unilateral atelectasis in an infant. ( 24453022 )
2014
42
Infantile myofibromatosis: a series of 28 cases. ( 24894456 )
2014
43
Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG? ( 25158255 )
2014
44
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis. ( 25241110 )
2014
45
Diagnosis of infantile myofibromatosis with pseudo-ulcerated plaque using prenatal ultrasound: A case report. ( 25371730 )
2014
46
[Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI]. ( 22118778 )
2014
47
Congenital solitary infantile myofibromatosis involving the spinal cord. ( 23082913 )
2013
48
Ulcerated congenital tumor. Solitary infantile myofibromatosis. ( 23375150 )
2013
49
Prenatal diagnosis of infantile myofibromatosis of the lung: a case report and review of the literature. ( 23686518 )
2013
50
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. ( 23731537 )
2013

Variations for Infantile Myofibromatosis

ClinVar genetic disease variations for Infantile Myofibromatosis:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDGFRB NM_002609.3(PDGFRB): c.1681C> T (p.Arg561Cys) single nucleotide variant Pathogenic rs367543286 GRCh37 Chromosome 5, 149505134: 149505134
2 PDGFRB NM_002609.3(PDGFRB): c.1681C> T (p.Arg561Cys) single nucleotide variant Pathogenic rs367543286 GRCh38 Chromosome 5, 150125571: 150125571
3 PDGFRB NM_002609.3(PDGFRB): c.1998C> A (p.Asn666Lys) single nucleotide variant Pathogenic/Likely pathogenic rs864309711 GRCh38 Chromosome 5, 150124275: 150124275
4 PDGFRB NM_002609.3(PDGFRB): c.1998C> A (p.Asn666Lys) single nucleotide variant Pathogenic/Likely pathogenic rs864309711 GRCh37 Chromosome 5, 149503838: 149503838
5 PDGFRB NM_002609.3(PDGFRB): c.1697_1702delGGAAGG (p.Trp566_Val568delinsLeu) deletion Pathogenic rs1060499543 GRCh37 Chromosome 5, 149505113: 149505118
6 PDGFRB NM_002609.3(PDGFRB): c.1697_1702delGGAAGG (p.Trp566_Val568delinsLeu) deletion Pathogenic rs1060499543 GRCh38 Chromosome 5, 150125550: 150125555
7 PDGFRB NM_002609.3(PDGFRB): c.1998C> G (p.Asn666Lys) single nucleotide variant Pathogenic rs864309711 GRCh37 Chromosome 5, 149503838: 149503838
8 PDGFRB NM_002609.3(PDGFRB): c.1998C> G (p.Asn666Lys) single nucleotide variant Pathogenic rs864309711 GRCh38 Chromosome 5, 150124275: 150124275
9 PDGFRB NM_002609.3(PDGFRB): c.1615_1616insGAT (p.Ile538_Leu539insArg) insertion Pathogenic rs1060499541 GRCh37 Chromosome 5, 149506141: 149506142
10 PDGFRB NM_002609.3(PDGFRB): c.1615_1616insGAT (p.Ile538_Leu539insArg) insertion Pathogenic rs1060499541 GRCh38 Chromosome 5, 150126578: 150126579
11 PDGFRB NM_002609.3(PDGFRB): c.2549A> T (p.Asp850Val) single nucleotide variant Pathogenic rs1060499540 GRCh37 Chromosome 5, 149500488: 149500488
12 PDGFRB NM_002609.3(PDGFRB): c.2549A> T (p.Asp850Val) single nucleotide variant Pathogenic rs1060499540 GRCh38 Chromosome 5, 150120925: 150120925
13 PDGFRB NM_002609.3(PDGFRB): c.1696T> C (p.Trp566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1060499542 GRCh38 Chromosome 5, 150125556: 150125556
14 PDGFRB NM_002609.3(PDGFRB): c.1696T> C (p.Trp566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1060499542 GRCh37 Chromosome 5, 149505119: 149505119

Cosmic variations for Infantile Myofibromatosis:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM584 NRAS skin,trunk,benign melanocytic nevus,congenital c.182A>G p.Q61R 1:114713908-114713908 0
2 COSM580 NRAS skin,trunk,benign melanocytic nevus,congenital c.181C>A p.Q61K 1:114713909-114713909 0
3 COSM28757 GNAQ skin,hand,benign melanocytic nevus,cellular c.626A>T p.Q209L 9:77794572-77794572 0
4 COSM476 BRAF skin,trunk,benign melanocytic nevus,congenital c.1799T>A p.V600E 7:140753336-140753336 0

Expression for Infantile Myofibromatosis

Search GEO for disease gene expression data for Infantile Myofibromatosis.

Pathways for Infantile Myofibromatosis

Pathways related to Infantile Myofibromatosis according to KEGG:

38
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330
2 PI3K-Akt signaling pathway hsa04151

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

# Super pathways Score Top Affiliating Genes
1 12.07 ACTC1 DES VIM
2 12.02 NOTCH3 PDGFRB VIM
3 11.08 NDRG4 NOTCH3 PDGFRB
4 10.97 NTRK3 PDGFRB
5
Show member pathways
10.91 DES VIM
6 10.66 ACTC1 DES VIM
7 10.36 DES NTRK3 PDGFRB VIM

GO Terms for Infantile Myofibromatosis

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton GO:0045111 9.16 CARMIL2 DES
2 cell leading edge GO:0031252 8.96 CARMIL2 VIM
3 receptor complex GO:0043235 8.8 NOTCH3 NTRK3 PDGFRB

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.61 NDRG4 NTRK3 PDGFRB
2 positive regulation of cell migration GO:0030335 9.58 CARMIL2 NTRK3 PDGFRB
3 positive regulation of collagen biosynthetic process GO:0032967 9.37 PDGFRB VIM
4 cardiac myofibril assembly GO:0055003 9.32 ACTC1 PDGFRB
5 intermediate filament organization GO:0045109 9.26 DES VIM
6 positive regulation of phospholipase C activity GO:0010863 9.16 NTRK3 PDGFRB
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.13 NTRK3 PDGFRB PTPRG
8 muscle filament sliding GO:0030049 8.8 ACTC1 DES VIM

Sources for Infantile Myofibromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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