MCID: INF049
MIFTS: 55

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 73 20 58 36 29 54 6 15 70
Lipofibromatosis 12
Myofibromatosis 70

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


Summaries for Infantile Myofibromatosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2591 Definition A rare benign soft tissue tumor 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. It contains myofibroblasts. Epidemiology The estimated prevalence is 1/150,000 live births. Clinical description Infantile myofibromatosis (IM) 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 (''myofibroma''), 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). Rarely, prenatal diagnosis could be evoked. Etiology Most 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 methods Diagnosis is evoked partly on family history and physical examination at this age. Myofibromas 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. Immunochemistry reveals vimentin and smooth muscle actin expression while vascular markers (S100 and CD34) are negative. In some cases, molecular tumor analysis could found a PDGFRB gene mutation. Differential diagnosis Differential diagnosis in case of solitary lesion includes hemangioma, lymphangioma, neurofibroma, infantile fibrosarcoma, Langerhans cell histiocytosis, inflammatory myofibroblastic tumor, desmoid tumors and dermoid or epidermoid tumors. Antenatal diagnosis Prenatal diagnosis is achieved by ultrasound examination and confirm by fetal MRI. Genetic counseling IM 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 treatment Due 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 low dose weekly methotrexate and vinblastine and is indicated for multifocal progressive life threatening lesions. Other treatments such as conventional chemotherapy (vincristine, D-actinomycin, and cyclophosphamide) should be kept for patients with rapid symptomatic progression because of the long-term risks of secondary malignancy development. PDGFRB inhibitors have not already been studied in such disease. Prognosis In 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.

MalaCards based summary : Infantile Myofibromatosis, also known as lipofibromatosis, is related to myofibromatosis, infantile, 1 and fibromatosis. 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 skin, bone and smooth muscle, and related phenotypes are abnormality of the metaphysis 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.

KEGG : 36 Infantile myofibromatosis (IM) is a benign fibrous tumour of infancy. The most common mode of presentation is with multiple subcutaneous swellings. Most IM lesions occur in neonates or infants under 24 months of age, with few reports of adult onset. It can occur in three forms: solitary, multicentric or generalised. The solitary form is the commonest and occurs as a single cutaneous nodule. The multicentric form involves the skin, subcutaneous tissues, muscles, and bone. The course is generally benign, with no metastases and regression of the tumor over a period of 12 to 18 months. The generalized form is associated with visceral involvement. This condition has serious prognostic implications as there is a 76% mortality from cardiopulmonary or gastrointestinal complications. While most cases of IM appear to be sporadic, there have been several reports of autosomal dominant inheritance pattern. Mutations in the PDGFRB and NOTCH3 genes were recently identified in patients with IM. Treatment options vary widely. Solitary and even multicentric lesions that are confined to the skin and subcutaneous tissues without visceral involvement frequently regress spontaneously. However, calcification and atrophic scars can remain after lesion regression. Extensive surgery has been reported to be beneficial for multicentric disease, as has chemotherapy.

Wikipedia : 73 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 261)
# Related Disease Score Top Affiliating Genes
1 myofibromatosis, infantile, 1 33.1 PDGFRB ACTC1
2 fibromatosis 31.1 VIM DES ACTC1
3 rare tumor 30.7 DES ACTC1
4 hemangiopericytoma, malignant 30.5 VIM DES CD34 CALD1 ACTC1
5 myopericytoma 30.4 PDGFRB ACTC1
6 infantile digital fibromatosis 30.4 VIM DES
7 myeloproliferative disorder, chronic, with eosinophilia 30.3 PDGFRB ETV6
8 malignant peripheral nerve sheath tumor 30.1 VIM PDGFRB CD34 ACTC1
9 congenital fibrosarcoma 30.1 VIM NTRK3 ETV6 DES ACTC1
10 spindle cell rhabdomyosarcoma 30.1 MB DES
11 intravenous leiomyomatosis 30.0 DES CD34 CALD1
12 mesenchymal cell neoplasm 30.0 PDGFRB NTRK3 CD34 CALD1
13 fibroma 30.0 VIM DES CD34 ACTC1
14 bednar tumor 30.0 VIM PDGFB
15 basal ganglia calcification, idiopathic, 1 29.9 SLC20A2 PDGFRB PDGFB MYORG
16 connective tissue benign neoplasm 29.9 PDGFRB CD34 CALD1
17 lipomatosis, multiple 29.9 DES CD34 CALD1
18 leiomyoma 29.9 VIM DES CD34 ACTC1
19 leiomyosarcoma 29.9 VIM PDGFRB MB DES ACTC1
20 sarcoma, synovial 29.8 VIM DES CD34
21 fibrosarcoma 29.7 VIM PDGFB NTRK3 ETV6 DES ACTC1
22 fasciitis 29.7 VIM ETV6 CD34 ACTC1
23 lymphangioma 29.6 VIM MIR143 CD34 ACTC1
24 pseudosarcomatous fibromatosis 29.6 VIM DES CD34 CALD1 ACTC1
25 glomus tumor 29.6 VIM DES CD34 CALD1 ACTC1
26 myofibroma 29.5 PDGFRB NOTCH3 MIR143 MB DES CD34
27 dermatofibrosarcoma protuberans 29.5 VIM PDGFRB PDGFB DES CD34 ACTC1
28 meningioma, familial 29.5 VIM PDGFRB PDGFB CD34
29 desmoid tumor 29.5 PDGFRB PDGFB CD34 ACTC1
30 adult fibrosarcoma 29.5 NTRK3 ETV6 CD34 CALD1
31 basal ganglia calcification 29.4 SLC20A2 PDGFRB PDGFB MYORG
32 hemangioma 29.4 VIM PDGFB NOTCH3 CD34 ACTC1
33 rhabdomyosarcoma 29.2 VIM PDGFRB PDGFB NOTCH3 MB DES
34 myofibromatosis, infantile, 2 11.6
35 lipofibromatosis-like neural tumor 11.1
36 giant cell myocarditis 10.4 MB DES
37 fibroblastic rheumatism 10.4 DES ACTC1
38 ovarian fibrothecoma 10.4 DES ACTC1
39 primitive neuroectodermal tumor of the cervix uteri 10.4 VIM DES
40 adult cystic nephroma 10.4 DES ACTC1
41 lymphangiomatosis 10.4 VIM DES
42 malignant triton tumor 10.4 MB DES
43 congenital epulis 10.4 VIM DES
44 epulis 10.3 VIM DES
45 pulmonary vein stenosis 10.3 DES ACTC1
46 kosaki overgrowth syndrome 10.3
47 medullomyoblastoma 10.3 MB DES
48 premature aging 10.3 VIM PDGFRB
49 lymphangiectasis 10.3 VIM ACTC1
50 intravascular papillary endothelial hyperplasia 10.3 VIM ACTC1

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:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
2 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
3 neoplasm of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008069
4 bone cyst 58 31 hallmark (90%) Very frequent (99-80%) HP:0012062
5 abnormality of the musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003011
6 abnormal skull morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000929
7 neoplasm of the lung 58 31 frequent (33%) Frequent (79-30%) HP:0100526
8 chondrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000934
9 gingival fibromatosis 58 31 frequent (33%) Frequent (79-30%) HP:0000169
10 abnormal thorax morphology 31 frequent (33%) HP:0000765
11 abnormal hair morphology 31 frequent (33%) HP:0001595
12 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
13 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
14 irregular hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007400
15 abnormality of the eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000478
16 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
17 benign neoplasm of the central nervous system 58 31 occasional (7.5%) Occasional (29-5%) HP:0100835
18 hypercalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003072
19 abnormality of the kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000077
20 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376
21 intestinal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005214
22 abnormal sacrum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005107
23 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
24 neoplasm of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0002894
25 abnormality of the face 58 Frequent (79-30%)
26 fibroma 58 Very frequent (99-80%)
27 sarcoma 58 Very frequent (99-80%)
28 abnormality of the thorax 58 Frequent (79-30%)
29 abnormality of the hair 58 Frequent (79-30%)
30 abnormal intestine morphology 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Infantile Myofibromatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.03 ACTC1 DES ETV6 MB MYORG NDRG4
2 homeostasis/metabolism MP:0005376 9.93 ACTC1 CARMIL2 CD34 DES ETV6 MB
3 integument MP:0010771 9.56 CARMIL2 CD34 ETV6 NOTCH3 PDGFB PDGFRB
4 muscle MP:0005369 9.17 ACTC1 DES MB NOTCH3 PDGFB PDGFRB

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 Phase 1/2 Study of the Oral RET Inhibitor LOXO 292 in Pediatric Patients With Advanced RET-Altered 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 29

Anatomical Context for Infantile Myofibromatosis

MalaCards organs/tissues related to Infantile Myofibromatosis:

40
Skin, Bone, Smooth Muscle, Breast, Kidney, Pancreas, Eye

Publications for Infantile Myofibromatosis

Articles related to Infantile Myofibromatosis:

(show top 50) (show all 432)
# Title Authors PMID Year
1
Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis. 61 6
31017643 2019
2
PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis. 61 6
28334876 2017
3
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. 61 6
28183292 2017
4
PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib. 6 61
26455322 2016
5
Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG? 61 6
25158255 2014
6
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. 6 61
23731537 2013
7
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. 6 61
23731542 2013
8
Autosomal dominant inheritance of infantile myofibromatosis. 6 61
15054839 2004
9
[Fibromatoses and related disorders in childhood]. 61 54
1477902 1992
10
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys). 61
33683022 2021
11
Diverse presentation and tailored treatment of infantile myofibromatosis: A single-center experience. 61
33063933 2021
12
Proportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features. 61
33634344 2021
13
An unusual case of a solitary cardiac myofibroma causing severe right ventricular outflow tract obstruction in an infant. 61
33103641 2021
14
Primary Resection and Immediate Autologous Reconstruction of Fronto-orbital Infantile Myofibromatoses. 61
33552804 2021
15
Major response to imatinib and chemotherapy in a newborn patient prenatally diagnosed with generalized infantile myofibromatosis. 61
32896962 2021
16
Generalized infantile myofibromatosis with visceral involvement presenting as diffuse hypopigmented macules at birth. 61
33222239 2021
17
The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression. 61
33509954 2021
18
Massive infantile myofibromatosis of the upper lip causing airway distress in a newborn. 61
31677854 2020
19
The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases. 61
32613555 2020
20
[Anatomoclinical and immunohistochemical study of 8 cases of dermatomyofibroma]. 61
33059951 2020
21
Infantile Myofibromatosis: 32 Patients and Review of Literature. 61
31764512 2020
22
Diagnostic limitations and considerations in the imaging evaluation of advanced multicentric infantile myofibromatosis. 61
33014229 2020
23
Reply to comment on: Solitary myofibroma preceding the development of multicentric myofibromatosis: A report of two cases with surveillance recommendations. 61
32798246 2020
24
Comment on: Solitary myofibroma preceding the development of multicentric myofibromatosis: A report of two cases with surveillance recommendations. 61
32735363 2020
25
Prenatal imaging patterns of different forms‚ÄČof infantile myofibromatosis. 61
31909539 2020
26
Solitary myofibroma preceding the development of multicentric myofibromatosis: A report of two cases with surveillance recommendations. 61
32618426 2020
27
[Left mandibular infantile myofibromatosis: a case report]. 61
33085248 2020
28
Pearls and Pitfalls in the Imaging of Soft-Tissue Masses in Children. 61
32980096 2020
29
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group. 61
32888134 2020
30
Myofibroma/myofibromatosis: MDCT and MR imaging findings in 24 patients with radiological-pathological correlation. 61
32847537 2020
31
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. 61
32500973 2020
32
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications. 61
32291752 2020
33
Treatment of generalized infantile myofibromatosis with sorafenib and imatinib: A case report. 61
32307894 2020
34
Infantile myofibromatosis: a rare cause of subcutaneous nodules in an infant. 61
32576562 2020
35
Extended Endonasal Endoscopic Complete Resection of a Solitary Intraorbital Myofibroma: A Case Report and Literature Review. 61
31678317 2020
36
Non-malignant fibroblastic/myofibroblastic tumors in pediatric age group: Clues and pitfalls to the cytological diagnosis. 61
32034815 2020
37
Notch Pathway and Inherited Diseases: Challenge and Promise. 61
32060876 2020
38
Novel Aspects of Genetics, Molecular Biology and Clinical Oncology of Sarcomas. 61
32075391 2020
39
Myofibromatosis. 61
31738635 2019
40
Gynecology and Oncology Fetal Myofibromatosis: A Challenge for Prenatal Diagnosis Mini Review of the English Literature. 61
31670833 2019
41
Prenatal sonography of multicentric infantile myofibromatosis: Case report and review of the literature. 61
31070795 2019
42
Novel PDGFRB rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinib. 61
31645346 2019
43
PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib. 61
31291054 2019
44
Utility of 18F-FDG PET/CT in Infantile Myofibromatosis. 61
31274622 2019
45
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. 61
31004414 2019
46
Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature. 61
30103666 2019
47
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome. 61
30573803 2019
48
Honeycomb appearance of fetal myofibromatosis. 61
29749081 2019
49
Infantile myofibromatosis: review of imaging findings and emphasis on correlation between MRI and histopathological findings. 61
30529421 2019
50
Infantile myofibromatosis treated by mandibulectomy and staged reconstruction with submental flap and free fibula flap: a case report. 61
30871614 2019

Variations for Infantile Myofibromatosis

ClinVar genetic disease variations for Infantile Myofibromatosis:

6 (show top 50) (show all 102)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDGFRB NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) SNV Pathogenic 218935 rs864309711 GRCh37: 5:149503838-149503838
GRCh38: 5:150124275-150124275
2 PDGFRB NM_002609.4(PDGFRB):c.1699A>G (p.Lys567Glu) SNV Pathogenic 375237 rs1554108389 GRCh37: 5:149505116-149505116
GRCh38: 5:150125553-150125553
3 PDGFRB NM_002609.4(PDGFRB):c.1519_1520insTACTGTCGGTGC (p.Arg507_Cys508insLeuLeuSerVal) Insertion Pathogenic 973194 GRCh37: 5:149509379-149509380
GRCh38: 5:150129816-150129817
4 PDGFRB NM_002609.4(PDGFRB):c.1716_1717insGAGCTGATCCGATGGAAGGTGATTGAGTCTGTG (p.Ser573_Ser574insGluLeuIleArgTrpLysValIleGluSerVal) Microsatellite Pathogenic 973195 GRCh37: 5:149505098-149505099
GRCh38: 5:150125535-150125536
5 PDGFRB NM_002609.4(PDGFRB):c.1682_1684del (p.Arg561_Tyr562delinsHis) Deletion Pathogenic 973196 GRCh37: 5:149505131-149505133
GRCh38: 5:150125568-150125570
6 PDGFRB NM_002609.4(PDGFRB):c.1684T>G (p.Tyr562Asp) SNV Pathogenic 973197 GRCh37: 5:149505131-149505131
GRCh38: 5:150125568-150125568
7 PDGFRB NM_002609.4(PDGFRB):c.1613T>A (p.Ile538Asn) SNV Pathogenic 973198 GRCh37: 5:149506144-149506144
GRCh38: 5:150126581-150126581
8 PDGFRB NM_002609.4(PDGFRB):c.1610C>A (p.Ala537Asp) SNV Pathogenic 973199 GRCh37: 5:149506147-149506147
GRCh38: 5:150126584-150126584
9 NOTCH3 NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro) SNV Pathogenic 55850 rs367543285 GRCh37: 19:15285059-15285059
GRCh38: 19:15174248-15174248
10 PDGFRB NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) SNV Pathogenic 55848 rs367543286 GRCh37: 5:149505134-149505134
GRCh38: 5:150125571-150125571
11 PDGFRB NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) SNV Pathogenic 375682 rs1060499542 GRCh37: 5:149505119-149505119
GRCh38: 5:150125556-150125556
12 PDGFRB NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) SNV Pathogenic 55848 rs367543286 GRCh37: 5:149505134-149505134
GRCh38: 5:150125571-150125571
13 PDGFRB NM_002609.4(PDGFRB):c.1615_1616insGAT (p.Leu539_Ala540insArg) Insertion Pathogenic 375557 rs1060499541 GRCh37: 5:149506141-149506142
GRCh38: 5:150126578-150126579
14 PDGFRB NM_002609.4(PDGFRB):c.2549A>T (p.Asp850Val) SNV Pathogenic 375681 rs1060499540 GRCh37: 5:149500488-149500488
GRCh38: 5:150120925-150120925
15 PDGFRB NM_002609.4(PDGFRB):c.1998C>G (p.Asn666Lys) SNV Pathogenic 375556 rs864309711 GRCh37: 5:149503838-149503838
GRCh38: 5:150124275-150124275
16 PDGFRB NM_002609.4(PDGFRB):c.1697_1702del (p.Trp566_Val568delinsLeu) Deletion Pathogenic 375555 rs1060499543 GRCh37: 5:149505113-149505118
GRCh38: 5:150125550-150125555
17 PDGFRB NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) SNV Pathogenic 55849 rs144050370 GRCh37: 5:149503858-149503858
GRCh38: 5:150124295-150124295
18 PDGFRB NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) SNV Pathogenic 375682 rs1060499542 GRCh37: 5:149505119-149505119
GRCh38: 5:150125556-150125556
19 PDGFRB NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) SNV Pathogenic 55848 rs367543286 GRCh37: 5:149505134-149505134
GRCh38: 5:150125571-150125571
20 NOTCH3 NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) SNV Pathogenic 447794 rs75068032 GRCh37: 19:15298084-15298084
GRCh38: 19:15187273-15187273
21 NOTCH3 NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) SNV Pathogenic 447849 rs1236699193 GRCh37: 19:15303013-15303013
GRCh38: 19:15192202-15192202
22 NOTCH3 NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) SNV Likely pathogenic 546089 rs201118034 GRCh37: 19:15298126-15298126
GRCh38: 19:15187315-15187315
23 NOTCH3 NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) SNV Likely pathogenic 447832 rs1555727841 GRCh37: 19:15290914-15290914
GRCh38: 19:15180103-15180103
24 NOTCH3 NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) SNV Likely pathogenic 374637 rs777751303 GRCh37: 19:15297937-15297937
GRCh38: 19:15187126-15187126
25 NOTCH3 NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) SNV Likely pathogenic 447862 rs775267348 GRCh37: 19:15302831-15302831
GRCh38: 19:15192020-15192020
26 PDGFRB NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) SNV Likely pathogenic 218935 rs864309711 GRCh37: 5:149503838-149503838
GRCh38: 5:150124275-150124275
27 PDGFRB NM_002609.4(PDGFRB):c.2023+5C>T SNV Uncertain significance 540599 rs369842668 GRCh37: 5:149503808-149503808
GRCh38: 5:150124245-150124245
28 PDGFRB NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) SNV Uncertain significance 639829 rs1580808180 GRCh37: 5:149512503-149512503
GRCh38: 5:150132940-150132940
29 PDGFRB NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) SNV Uncertain significance 656806 rs770027941 GRCh37: 5:149505038-149505038
GRCh38: 5:150125475-150125475
30 PDGFRB NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) SNV Uncertain significance 663275 rs765124485 GRCh37: 5:149509449-149509449
GRCh38: 5:150129886-150129886
31 PDGFRB NM_002609.4(PDGFRB):c.2464-3C>T SNV Uncertain significance 572749 rs571983343 GRCh37: 5:149500576-149500576
GRCh38: 5:150121013-150121013
32 PDGFRB NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) SNV Uncertain significance 576602 rs1561984983 GRCh37: 5:149497379-149497379
GRCh38: 5:150117816-150117816
33 PDGFRB NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg) SNV Uncertain significance 581169 rs374802057 GRCh37: 5:149511568-149511568
GRCh38: 5:150132005-150132005
34 PDGFRB NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) SNV Uncertain significance 581888 rs1312583190 GRCh37: 5:149510123-149510123
GRCh38: 5:150130560-150130560
35 PDGFRB NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) SNV Uncertain significance 582961 rs1562011077 GRCh37: 5:149514460-149514460
GRCh38: 5:150134897-150134897
36 PDGFRB NC_000005.9:g.(?_149503793)_(149516630_?)dup Duplication Uncertain significance 584307 GRCh37: 5:149503793-149516630
GRCh38: 5:150124230-150137067
37 NOTCH3 NM_000435.3(NOTCH3):c.214G>A (p.Val72Met) SNV Uncertain significance 1032358 GRCh37: 19:15303314-15303314
GRCh38: 19:15192503-15192503
38 NOTCH3 NM_000435.3(NOTCH3):c.5114+11T>G SNV Uncertain significance 1032359 GRCh37: 19:15281131-15281131
GRCh38: 19:15170320-15170320
39 PDGFRB NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys) SNV Uncertain significance 863633 GRCh37: 5:149505049-149505049
GRCh38: 5:150125486-150125486
40 PDGFRB NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys) SNV Uncertain significance 863739 GRCh37: 5:149515439-149515439
GRCh38: 5:150135876-150135876
41 NOTCH3 NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) SNV Uncertain significance 101050 rs371491165 GRCh37: 19:15302999-15302999
GRCh38: 19:15192188-15192188
42 PDGFRB NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn) SNV Uncertain significance 948189 GRCh37: 5:149499685-149499685
GRCh38: 5:150120122-150120122
43 PDGFRB NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu) SNV Uncertain significance 951630 GRCh37: 5:149515306-149515306
GRCh38: 5:150135743-150135743
44 PDGFRB NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp) SNV Uncertain significance 955087 GRCh37: 5:149514567-149514567
GRCh38: 5:150135004-150135004
45 PDGFRB NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val) SNV Uncertain significance 958188 GRCh37: 5:149498342-149498342
GRCh38: 5:150118779-150118779
46 PDGFRB NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile) SNV Uncertain significance 958594 GRCh37: 5:149500570-149500570
GRCh38: 5:150121007-150121007
47 PDGFRB NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys) SNV Uncertain significance 971582 GRCh37: 5:149515148-149515148
GRCh38: 5:150135585-150135585
48 PDGFRB NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys) SNV Uncertain significance 1005357 GRCh37: 5:149505128-149505128
GRCh38: 5:150125565-150125565
49 PDGFRB NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn) SNV Uncertain significance 1009692 GRCh37: 5:149501461-149501461
GRCh38: 5:150121898-150121898
50 PDGFRB NC_000005.9:g.(?_149503793)_(149516630_?)dup Duplication Uncertain significance 1010852 GRCh37: 5:149503793-149516630
GRCh38:

Cosmic variations for Infantile Myofibromatosis:

9 (show top 50) (show all 194)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM93212565 RPS6KA4 soft tissue,bone,fibrosarcoma,NS c.208G>A p.A70T 11:64360243-64360243 3
2 COSM129904332 RPS6KA4 soft tissue,bone,fibrosarcoma,NS c.208G>A p.A70T 11:64360243-64360243 3
3 COSM97424951 PLCG2 soft tissue,bone,fibrosarcoma,NS c.323C>T p.T108M 16:81854573-81854573 3
4 COSM135341141 PLCG2 soft tissue,bone,fibrosarcoma,NS c.323C>T p.T108M 16:81854573-81854573 3
5 COSM107890080 PIK3CG soft tissue,bone,fibrosarcoma,NS c.817C>T p.R273C 7:106868378-106868378 3
6 COSM121852722 PIK3CG soft tissue,bone,fibrosarcoma,NS c.817C>T p.R273C 7:106868378-106868378 3
7 COSM96445249 PIK3CG soft tissue,bone,fibrosarcoma,NS c.817C>T p.R273C 7:106868378-106868378 3
8 COSM105512533 NF2 soft tissue,bone,fibrosarcoma,NS c.359T>A p.L120* 22:29639208-29639208 3
9 COSM94461573 NF2 soft tissue,bone,fibrosarcoma,NS c.240+2332T>A p.? 22:29639208-29639208 3
10 COSM105109143 NF2 soft tissue,bone,fibrosarcoma,NS c.359T>A p.L120* 22:29639208-29639208 3
11 COSM89066062 NF2 soft tissue,bone,fibrosarcoma,NS c.115-2994T>A p.? 22:29639208-29639208 3
12 COSM102654456 NF2 soft tissue,bone,fibrosarcoma,NS c.359T>A p.L120* 22:29639208-29639208 3
13 COSM95500621 NF2 soft tissue,bone,fibrosarcoma,NS c.233T>A p.L78* 22:29639208-29639208 3
14 COSM93473497 NF2 soft tissue,bone,fibrosarcoma,NS c.359T>A p.L120* 22:29639208-29639208 3
15 COSM92444580 NF2 soft tissue,bone,fibrosarcoma,NS c.115-2994T>A p.? 22:29639208-29639208 3
16 COSM89044259 NF2 soft tissue,bone,fibrosarcoma,NS c.359T>A p.L120* 22:29639208-29639208 3
17 COSM102846207 NF2 soft tissue,bone,fibrosarcoma,NS c.359T>A p.L120* 22:29639208-29639208 3
18 COSM109963448 NF1 soft tissue,neck,neurofibroma,NS c.271G>A p.E91K 17:31159076-31159076 3
19 COSM93652522 NF1 soft tissue,hand,neurofibroma,NS c.1246C>T p.R416* 17:31201471-31201471 3
20 COSM93508552 NF1 soft tissue,hand,neurofibroma,NS c.1246C>T p.R416* 17:31201471-31201471 3
21 COSM120509401 NF1 soft tissue,hand,neurofibroma,NS c.1246C>T p.R416* 17:31201471-31201471 3
22 COSM93516155 NF1 soft tissue,neck,neurofibroma,NS c.271G>A p.E91K 17:31159076-31159076 3
23 COSM120511418 NF1 soft tissue,neck,neurofibroma,NS c.271G>A p.E91K 17:31159076-31159076 3
24 COSM93661434 NF1 soft tissue,neck,neurofibroma,NS c.271G>A p.E91K 17:31159076-31159076 3
25 COSM119515563 NF1 soft tissue,neck,neurofibroma,NS c.-43G>A p.? 17:31159076-31159076 3
26 COSM109961434 NF1 soft tissue,hand,neurofibroma,NS c.1246C>T p.R416* 17:31201471-31201471 3
27 COSM89368085 CTNNB1 soft tissue,neck,desmoid tumour-fibromatosis,NS c.134C>T p.S45F 3:41224646-41224646 3
28 COSM150659433 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.121A>G p.T41A 3:41224633-41224633 3
29 COSM150659439 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.134C>T p.S45F 3:41224646-41224646 3
30 COSM150452297 CTNNB1 soft tissue,neck,desmoid tumour-fibromatosis,NS c.134C>T p.S45F 3:41224646-41224646 3
31 COSM149584656 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.121A>G p.T41A 3:41224633-41224633 3
32 COSM102450382 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.121A>G p.T41A 3:41224633-41224633 3
33 COSM105887897 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.121A>G p.T41A 3:41224633-41224633 3
34 COSM150274816 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.121A>G p.T41A 3:41224633-41224633 3
35 COSM111036032 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.134C>T p.S45F 3:41224646-41224646 3
36 COSM146867447 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.121A>G p.T41A 3:41224633-41224633 3
37 COSM150141861 CTNNB1 soft tissue,head neck,desmoid tumour-fibromatosis,NS c.121A>G p.T41A 3:41224633-41224633 3
38 COSM150867945 CTNNB1 soft tissue,head neck,desmoid tumour-fibromatosis,NS c.100A>G p.T34A 3:41224633-41224633 3
39 COSM150961023 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.113C>T p.S38F 3:41224646-41224646 3
40 COSM109691696 CTNNB1 soft tissue,neck,desmoid tumour-fibromatosis,NS c.134C>T p.S45F 3:41224646-41224646 3
41 COSM151812032 CTNNB1 soft tissue,neck,desmoid tumour-fibromatosis,NS c.121A>G p.T41A 3:41224633-41224633 3
42 COSM151343433 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.100A>G p.T34A 3:41224633-41224633 3
43 COSM151979814 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.134C>T p.S45F 3:41224646-41224646 3
44 COSM150088152 CTNNB1 soft tissue,neck,desmoid tumour-fibromatosis,NS c.100A>G p.T34A 3:41224633-41224633 3
45 COSM151591321 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.121A>G p.T41A 3:41224633-41224633 3
46 COSM150913542 CTNNB1 soft tissue,head neck,desmoid tumour-fibromatosis,NS c.134C>T p.S45F 3:41224646-41224646 3
47 COSM151826989 CTNNB1 soft tissue,neck,desmoid tumour-fibromatosis,NS c.134C>T p.S45F 3:41224646-41224646 3
48 COSM151325867 CTNNB1 soft tissue,neck,desmoid tumour-fibromatosis,NS c.113C>T p.S38F 3:41224646-41224646 3
49 COSM111036018 CTNNB1 soft tissue,neck,desmoid tumour-fibromatosis,NS c.121A>G p.T41A 3:41224633-41224633 3
50 COSM149480296 CTNNB1 soft tissue,trunk,desmoid tumour-fibromatosis,NS c.134C>T p.S45F 3:41224646-41224646 3

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:

36
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330
2 PI3K-Akt signaling pathway hsa04151

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 membrane GO:0016020 9.83 VIM SLC20A2 PTPRG PDGFRB PDGFB NTRK3
2 intermediate filament cytoskeleton GO:0045111 8.8 VIM DES CARMIL2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.8 VIM PDGFB NTRK3 CD34 ACTC1
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.75 PTPRG PDGFRB NTRK3
3 positive regulation of cell migration GO:0030335 9.73 PDGFRB PDGFB NTRK3 CARMIL2
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.67 PDGFRB PDGFB NTRK3 NDRG4
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.65 PDGFRB PDGFB NTRK3
6 positive regulation of smooth muscle cell migration GO:0014911 9.57 PDGFRB PDGFB
7 positive regulation of chemotaxis GO:0050921 9.56 PDGFRB PDGFB
8 positive regulation of protein kinase B signaling GO:0051897 9.56 PDGFRB PDGFB MYORG MIR143
9 intermediate filament organization GO:0045109 9.55 VIM DES
10 positive regulation of calcium ion import GO:0090280 9.54 PDGFRB PDGFB
11 positive regulation of DNA biosynthetic process GO:2000573 9.52 PDGFRB PDGFB
12 hematopoietic stem cell proliferation GO:0071425 9.51 ETV6 CD34
13 positive regulation of phospholipase C activity GO:0010863 9.49 PDGFRB NTRK3
14 cardiac myofibril assembly GO:0055003 9.46 PDGFRB ACTC1
15 muscle filament sliding GO:0030049 9.33 VIM DES ACTC1
16 paracrine signaling GO:0038001 9.32 PDGFB CD34
17 positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway GO:0035793 8.96 PDGFRB PDGFB
18 activation of protein kinase B activity GO:0032148 8.8 PDGFB NTRK3 MIR143

Molecular functions related to Infantile Myofibromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor receptor binding GO:0005161 8.96 PDGFRB PDGFB
2 platelet-derived growth factor binding GO:0048407 8.62 PDGFRB PDGFB

Sources for Infantile Myofibromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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