MCID: INF049
MIFTS: 54

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 76 53 59 37 29 55 6 15 73
Myofibromatosis 73

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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. Affiliated tissues include bone, skin and lung, and related phenotypes are abnormality of the eye and subcutaneous nodule

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 : 76 Infantile myofibromatosis (also known as "Congenital generalized fibromatosis," and "Congenital... 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 103)
# Related Disease Score Top Affiliating Genes
1 myofibromatosis, infantile, 1 33.0 ACTC1 NOTCH3 PDGFRB
2 myofibroma 30.4 DES MB PDGFRB
3 fibromatosis 30.1 ACTC1 DES VIM
4 congenital fibrosarcoma 29.8 ACTC1 DES VIM
5 myofibromatosis, infantile, 2 12.0
6 fibromuscular dysplasia 10.2
7 intussusception 10.2
8 fibrosarcoma 10.2
9 giant cell myocarditis 10.1 DES MB
10 malignant triton tumor 10.1 DES MB
11 mesenchymoma 10.1 DES MB
12 spindle cell rhabdomyosarcoma 10.1 DES MB
13 bilateral retinoblastoma 10.1 DES MB
14 corneal dystrophy, subepithelial mucinous 10.1 MB PDGFRB
15 adenosarcoma 10.1 DES MB
16 infantile digital fibromatosis 10.1 DES VIM
17 lymphangiomatosis 10.1 DES VIM
18 primitive neuroectodermal tumor of the cervix uteri 10.1 DES VIM
19 epulis 10.1 DES VIM
20 syringocystadenoma papilliferum 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 medullomyoblastoma 10.1 DES MB
29 mesenchymal chondrosarcoma 10.1 DES VIM
30 extraskeletal ewing sarcoma 10.1 DES VIM
31 malignant mesenchymoma 10.1 DES MB
32 granular cell tumor 10.1 DES VIM
33 embryonal sarcoma 10.0 DES VIM
34 congenital epulis 10.0 DES VIM
35 pelvic organ prolapse 10.0
36 hemochromatosis, neonatal 10.0
37 autosomal dominant disease 10.0
38 dermoid cyst 10.0
39 leiomyomatosis 10.0
40 myopericytoma 10.0 ACTC1 PDGFRB
41 muscle cancer 10.0 DES MB
42 uterine sarcoma 10.0 DES MB PDGFRB
43 ovarian fibrothecoma 10.0 ACTC1 DES
44 fibroblastic rheumatism 10.0 ACTC1 DES
45 glomangioma 10.0 ACTC1 DES
46 non-langerhans-cell histiocytosis 10.0 ACTC1 DES
47 chordoma 10.0 DES PDGFRB VIM
48 pulmonary vein stenosis 10.0 ACTC1 DES
49 ischemic fasciitis 10.0 ACTC1 DES
50 binswanger's disease 10.0 ACTC1 NOTCH3

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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000478
2 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
3 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
4 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
5 abnormality of the thorax 59 32 frequent (33%) Frequent (79-30%) HP:0000765
6 limitation of joint mobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001376
7 abnormality of the skull 59 32 frequent (33%) Frequent (79-30%) HP:0000929
8 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
9 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
10 abnormality of the kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000077
11 irregular hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007400
12 abnormality of the musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003011
13 neoplasm of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008069
14 benign neoplasm of the central nervous system 59 32 occasional (7.5%) Occasional (29-5%) HP:0100835
15 hypercalcemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003072
16 tracheoesophageal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002575
17 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
18 neoplasm of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0002894
19 abnormality of the hair 59 32 frequent (33%) Frequent (79-30%) HP:0001595
20 neoplasm of the lung 59 32 frequent (33%) Frequent (79-30%) HP:0100526
21 bone cyst 59 32 hallmark (90%) Very frequent (99-80%) HP:0012062
22 chondrocalcinosis 59 32 frequent (33%) Frequent (79-30%) HP:0000934
23 gingival fibromatosis 59 32 frequent (33%) Frequent (79-30%) HP:0000169
24 abnormality of the face 59 Frequent (79-30%)
25 fibroma 59 Very frequent (99-80%)
26 sarcoma 59 Very frequent (99-80%)
27 abnormality of the sacrum 59 Occasional (29-5%)
28 abnormality of the intestine 59 Frequent (79-30%)
29 abnormal sacrum morphology 32 occasional (7.5%) HP:0005107

MGI Mouse Phenotypes related to Infantile Myofibromatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.92 CARMIL2 DES MYH10 NDRG4 NOTCH3 PDGFRB
2 cardiovascular system MP:0005385 9.8 ACTC1 DES MB MYH10 NOTCH3 PDGFRB
3 cellular MP:0005384 9.7 ACTC1 DES MB MYH10 NOTCH3 PDGFRB
4 homeostasis/metabolism MP:0005376 9.61 ACTC1 CARMIL2 DES MB MYH10 NDRG4
5 muscle MP:0005369 9.17 ACTC1 DES MB MYH10 NOTCH3 PDGFRB

Drugs & Therapeutics for Infantile Myofibromatosis

Search Clinical Trials , NIH Clinical Center for Infantile Myofibromatosis

Genetic Tests for Infantile Myofibromatosis

Genetic tests related to Infantile Myofibromatosis:

# Genetic test Affiliating Genes
1 Infantile Myofibromatosis 29

Anatomical Context for Infantile Myofibromatosis

MalaCards organs/tissues related to Infantile Myofibromatosis:

41
Bone, Skin, Lung, Smooth Muscle, Heart, Kidney, Ovary

Publications for Infantile Myofibromatosis

Articles related to Infantile Myofibromatosis:

(show top 50) (show all 243)
# Title Authors Year
1
Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature. ( 30103666 )
2018
2
Effects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a PDGFRB Mutation Associated with Infantile Myofibromatosis. ( 30200486 )
2018
3
Infantile myofibromatosis: review of imaging findings and emphasis on correlation between MRI and histopathological findings. ( 30529421 )
2018
4
Agressive pediatric myofibromatosis in a two-year-old child. ( 29274401 )
2018
5
The "honeycomb" appearance of fetal myofibromatosis. ( 29749081 )
2018
6
Myofibromatosis presenting as reticulated vascular changes and subcutaneous atrophy in a patient with somatic mosaicism of PDGFRB mutation. ( 29999524 )
2018
7
Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis. ( 28417142 )
2017
8
"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
9
Infantile myofibromatosis - a clinical and pathological diagnostic challenge. ( 28541875 )
2017
10
A Rare Case of Infantile Myofibromatosis Presenting to the Emergency Department as Undiagnosed Long Bone Fractures. ( 29095782 )
2017
11
Whole-body magnetic resonance imaging in the diagnosis and follow-up of multicentric infantile myofibromatosis: A case report. ( 28413672 )
2017
12
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
13
The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence. ( 28286173 )
2017
14
A large mediastinal tumour invading into the liver with foetal hydrops: A rare case of infantile myofibromatosis. ( 28395635 )
2017
15
PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis. ( 28334876 )
2017
16
Infantile myofibromatosis. ( 29364448 )
2017
17
Infantile myofibromatosis of the iliac bone. ( 29263742 )
2017
18
Myofibromatosis: Utility of fine needle aspiration cytology in the diagnosis of an underreported entity. ( 28182064 )
2017
19
An update on myofibromas and myofibromatosis affecting the oral regions with report of 24 new cases. ( 28522188 )
2017
20
Multiple Bone Lesions in an 8-Month-Old Child Presenting with Pathologic Fracture: A Rare Case of Solely Osseous Multicentric Infantile Myofibromatosis. ( 29252675 )
2016
21
An unusual cause of neonatal hip dislocation: Infantile myofibromatosis presenting as developmental dysplasia of the hip. ( 27646511 )
2016
22
CD34-positive infantile myofibromatosis: Case report and review of hemangiopericytoma-like pattern tumors. ( 27074874 )
2016
23
Extracalvarial Composite Infantile Myofibromatosis: Case Report and Literature Review. ( 28018804 )
2016
24
Six Cases of Myofibroma--The Adult Counterpart of Infantile Myofibromatosis: Case Report. ( 26718074 )
2016
25
Intracranial Infantile Myofibromatosis Mimicking Malignant Brain Tumor: A Case Report and Literature Review. ( 27373934 )
2016
26
A case of advanced infantile myofibromatosis harboring a novel MYH10-RET fusion. ( 28028925 )
2016
27
Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report. ( 26603035 )
2015
28
Infantile Myofibromatosis of the Soft Palate. ( 26080220 )
2015
29
Generalized infantile myofibromatosis with a monophasic primitive pattern. ( 25989870 )
2015
30
Spontaneous Regression of an Infantile Scalp Tumor. Infantile myofibromatosis. ( 25692278 )
2015
31
PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib. ( 26455322 )
2015
32
Infantile myofibromatosis of uterus: A case report. ( 26905167 )
2015
33
Chemotherapy for Generalized Infantile Myofibromatosis With Visceral Involvement. ( 24608078 )
2015
34
A Rare Disorder Masquerading as Osteomyelitis. Diagnosis: Multicentric Myofibromatosis. ( 25601957 )
2015
35
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis. ( 25241110 )
2014
36
Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG? ( 25158255 )
2014
37
Vincristine and Dactinomycin in Infantile Myofibromatosis With a Review of Treatment Options. ( 25389917 )
2014
38
Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI. ( 22118778 )
2014
39
Infantile myofibromatosis as an unusual cause for unilateral atelectasis in an infant. ( 24453022 )
2014
40
Diagnosis of infantile myofibromatosis with pseudo-ulcerated plaque using prenatal ultrasound: A case report. ( 25371730 )
2014
41
Infantile myofibromatosis: a series of 28 cases. ( 24894456 )
2014
42
Prenatal diagnosis of infantile myofibromatosis of the lung: a case report and review of the literature. ( 23686518 )
2013
43
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. ( 23731542 )
2013
44
Congenital solitary infantile myofibromatosis involving the spinal cord. ( 23082913 )
2013
45
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. ( 23731537 )
2013
46
Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. ( 23865785 )
2013
47
Solitary infantile myofibromatosis in the bones of the upper extremities: Two rare cases and a review of the literature. ( 24179532 )
2013
48
Ulcerated congenital tumor. Solitary infantile myofibromatosis. ( 23375150 )
2013
49
Recurrent infantile myofibromatosis in a 19-month-old boy presenting as ulcerated plaque. ( 24517046 )
2013
50
Isolated infantile myofibromatosis of the upper eyelid: uncommon localization and long-term results after surgical management. ( 22813815 )
2012

Variations for Infantile Myofibromatosis

ClinVar genetic disease variations for Infantile Myofibromatosis:

6 (show top 50) (show all 64)
# 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.1978C> A (p.Pro660Thr) single nucleotide variant Pathogenic rs144050370 GRCh37 Chromosome 5, 149503858: 149503858
4 PDGFRB NM_002609.3(PDGFRB): c.1978C> A (p.Pro660Thr) single nucleotide variant Pathogenic rs144050370 GRCh38 Chromosome 5, 150124295: 150124295
5 NOTCH3 NM_000435.2(NOTCH3): c.4556T> C (p.Leu1519Pro) single nucleotide variant Pathogenic rs367543285 GRCh37 Chromosome 19, 15285059: 15285059
6 NOTCH3 NM_000435.2(NOTCH3): c.4556T> C (p.Leu1519Pro) single nucleotide variant Pathogenic rs367543285 GRCh38 Chromosome 19, 15174248: 15174248
7 PDGFRB NM_002609.3(PDGFRB): c.1998C> A (p.Asn666Lys) single nucleotide variant Pathogenic/Likely pathogenic rs864309711 GRCh38 Chromosome 5, 150124275: 150124275
8 PDGFRB NM_002609.3(PDGFRB): c.1998C> A (p.Asn666Lys) single nucleotide variant Pathogenic/Likely pathogenic rs864309711 GRCh37 Chromosome 5, 149503838: 149503838
9 PDGFRB NM_002609.3(PDGFRB): c.85A> T (p.Ile29Phe) single nucleotide variant Benign rs17110944 GRCh38 Chromosome 5, 150135834: 150135834
10 PDGFRB NM_002609.3(PDGFRB): c.85A> T (p.Ile29Phe) single nucleotide variant Benign rs17110944 GRCh37 Chromosome 5, 149515397: 149515397
11 PDGFRB NM_002609.3(PDGFRB): c.2523G> A (p.Lys841=) single nucleotide variant Benign/Likely benign rs41287108 GRCh37 Chromosome 5, 149500514: 149500514
12 PDGFRB NM_002609.3(PDGFRB): c.2523G> A (p.Lys841=) single nucleotide variant Benign/Likely benign rs41287108 GRCh38 Chromosome 5, 150120951: 150120951
13 PDGFRB NM_002609.3(PDGFRB): c.1699A> G (p.Lys567Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 150125553: 150125553
14 PDGFRB NM_002609.3(PDGFRB): c.1699A> G (p.Lys567Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 149505116: 149505116
15 PDGFRB NM_002609.3(PDGFRB): c.1697_1702delGGAAGG (p.Trp566_Val568delinsLeu) deletion Pathogenic rs1060499543 GRCh37 Chromosome 5, 149505113: 149505118
16 PDGFRB NM_002609.3(PDGFRB): c.1697_1702delGGAAGG (p.Trp566_Val568delinsLeu) deletion Pathogenic rs1060499543 GRCh38 Chromosome 5, 150125550: 150125555
17 PDGFRB NM_002609.3(PDGFRB): c.1998C> G (p.Asn666Lys) single nucleotide variant Pathogenic rs864309711 GRCh37 Chromosome 5, 149503838: 149503838
18 PDGFRB NM_002609.3(PDGFRB): c.1998C> G (p.Asn666Lys) single nucleotide variant Pathogenic rs864309711 GRCh38 Chromosome 5, 150124275: 150124275
19 PDGFRB NM_002609.3(PDGFRB): c.1615_1616insGAT (p.Ile538_Leu539insArg) insertion Pathogenic rs1060499541 GRCh37 Chromosome 5, 149506141: 149506142
20 PDGFRB NM_002609.3(PDGFRB): c.1615_1616insGAT (p.Ile538_Leu539insArg) insertion Pathogenic rs1060499541 GRCh38 Chromosome 5, 150126578: 150126579
21 PDGFRB NM_002609.3(PDGFRB): c.2549A> T (p.Asp850Val) single nucleotide variant Pathogenic rs1060499540 GRCh37 Chromosome 5, 149500488: 149500488
22 PDGFRB NM_002609.3(PDGFRB): c.2549A> T (p.Asp850Val) single nucleotide variant Pathogenic rs1060499540 GRCh38 Chromosome 5, 150120925: 150120925
23 PDGFRB NM_002609.3(PDGFRB): c.1696T> C (p.Trp566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1060499542 GRCh38 Chromosome 5, 150125556: 150125556
24 PDGFRB NM_002609.3(PDGFRB): c.1696T> C (p.Trp566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1060499542 GRCh37 Chromosome 5, 149505119: 149505119
25 PDGFRB NM_002609.3(PDGFRB): c.1033C> T (p.Pro345Ser) single nucleotide variant Benign/Likely benign rs2229558 GRCh37 Chromosome 5, 149512407: 149512407
26 PDGFRB NM_002609.3(PDGFRB): c.1033C> T (p.Pro345Ser) single nucleotide variant Benign/Likely benign rs2229558 GRCh38 Chromosome 5, 150132844: 150132844
27 PDGFRB NM_002609.3(PDGFRB): c.1854G> A (p.Thr618=) single nucleotide variant Benign rs56072663 GRCh37 Chromosome 5, 149504348: 149504348
28 PDGFRB NM_002609.3(PDGFRB): c.1854G> A (p.Thr618=) single nucleotide variant Benign rs56072663 GRCh38 Chromosome 5, 150124785: 150124785
29 PDGFRB NM_002609.3(PDGFRB): c.1505G> A (p.Arg502Gln) single nucleotide variant Benign rs148974733 GRCh37 Chromosome 5, 149509394: 149509394
30 PDGFRB NM_002609.3(PDGFRB): c.1505G> A (p.Arg502Gln) single nucleotide variant Benign rs148974733 GRCh38 Chromosome 5, 150129831: 150129831
31 PDGFRB NM_002609.3(PDGFRB): c.3119G> T (p.Gly1040Val) single nucleotide variant Benign rs149417689 GRCh37 Chromosome 5, 149497199: 149497199
32 PDGFRB NM_002609.3(PDGFRB): c.3119G> T (p.Gly1040Val) single nucleotide variant Benign rs149417689 GRCh38 Chromosome 5, 150117636: 150117636
33 PDGFRB NM_002609.3(PDGFRB): c.1149G> C (p.Leu383=) single nucleotide variant Benign rs2228439 GRCh37 Chromosome 5, 149511636: 149511636
34 PDGFRB NM_002609.3(PDGFRB): c.1149G> C (p.Leu383=) single nucleotide variant Benign rs2228439 GRCh38 Chromosome 5, 150132073: 150132073
35 PDGFRB NM_002609.3(PDGFRB): c.365-4G> T single nucleotide variant Benign rs139448702 GRCh37 Chromosome 5, 149514583: 149514583
36 PDGFRB NM_002609.3(PDGFRB): c.365-4G> T single nucleotide variant Benign rs139448702 GRCh38 Chromosome 5, 150135020: 150135020
37 PDGFRB NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 GRCh37 Chromosome 5, 149499657: 149499657
38 PDGFRB NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 GRCh38 Chromosome 5, 150120094: 150120094
39 PDGFRB NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 GRCh38 Chromosome 5, 150129883: 150129883
40 PDGFRB NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 GRCh37 Chromosome 5, 149509446: 149509446
41 PDGFRB NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 GRCh37 Chromosome 5, 149509508: 149509508
42 PDGFRB NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 GRCh38 Chromosome 5, 150129945: 150129945
43 PDGFRB NM_002609.3(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 GRCh37 Chromosome 5, 149515380: 149515380
44 PDGFRB NM_002609.3(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 GRCh38 Chromosome 5, 150135817: 150135817
45 PDGFRB NM_002609.3(PDGFRB): c.2023+5C> T single nucleotide variant Uncertain significance rs369842668 GRCh38 Chromosome 5, 150124245: 150124245
46 PDGFRB NM_002609.3(PDGFRB): c.2023+5C> T single nucleotide variant Uncertain significance rs369842668 GRCh37 Chromosome 5, 149503808: 149503808
47 PDGFRB NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=) single nucleotide variant Benign rs56078873 GRCh38 Chromosome 5, 150125491: 150125491
48 PDGFRB NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=) single nucleotide variant Benign rs56078873 GRCh37 Chromosome 5, 149505054: 149505054
49 PDGFRB NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 GRCh38 Chromosome 5, 150129864: 150129864
50 PDGFRB NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 GRCh37 Chromosome 5, 149509427: 149509427

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 6
2 COSM580 NRAS skin,hand,benign melanocytic nevus,congenital c.181C>A p.Q61K 1:114713909-114713909 6
3 COSM476 BRAF skin,trunk,benign melanocytic nevus,congenital c.1799T>A p.V600E 7:140753336-140753336 6
4 COSM28757 GNAQ skin,hand,benign melanocytic nevus,cellular c.626A>T p.Q209L 9:77794572-77794572 5

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:

37
# 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 11.97 NOTCH3 PDGFRB VIM
2 11.75 ACTC1 DES MYH10 VIM
3 11.28 NDRG4 NOTCH3 PDGFRB
4
Show member pathways
10.91 DES VIM
5 10.66 ACTC1 DES 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 extracellular exosome GO:0070062 9.43 ACTC1 DES MB MYH10 PTPRG VIM
2 intermediate filament cytoskeleton GO:0045111 9.32 CARMIL2 DES
3 cell leading edge GO:0031252 9.26 CARMIL2 VIM
4 polysome GO:0005844 9.16 MYH10 VIM
5 lamellipodium GO:0030027 8.8 ACTC1 CARMIL2 MYH10

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

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.58 MYH10 NDRG4 PTPRG
2 positive regulation of smooth muscle cell proliferation GO:0048661 9.46 NOTCH3 PDGFRB
3 response to hydrogen peroxide GO:0042542 9.43 MB PDGFRB
4 actomyosin structure organization GO:0031032 9.37 ACTC1 MYH10
5 positive regulation of collagen biosynthetic process GO:0032967 9.32 PDGFRB VIM
6 actin filament-based movement GO:0030048 9.26 ACTC1 MYH10
7 intermediate filament organization GO:0045109 9.16 DES VIM
8 muscle filament sliding GO:0030049 9.13 ACTC1 DES VIM
9 cardiac myofibril assembly GO:0055003 8.8 ACTC1 MYH10 PDGFRB

Sources for Infantile Myofibromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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