MCID: INF049
MIFTS: 47

Infantile Myofibromatosis

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

Aliases & Classifications for Infantile Myofibromatosis

MalaCards integrated aliases for Infantile Myofibromatosis:

Name: Infantile Myofibromatosis 12 50 56 29 52 14 69
Myofibromatosis 69

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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. last updated: 11/8/2013

MalaCards based summary : Infantile Myofibromatosis, also known as myofibromatosis, is related to myofibromatosis, infantile 2 and myofibromatosis, infantile, 1, and has symptoms including hypercalcemia, intestinal obstruction and gingival fibromatosis. An important gene associated with Infantile Myofibromatosis is PDGFRB (Platelet Derived Growth Factor Receptor Beta), and among its related pathways/superpathways are MicroRNAs in cancer and Cytoskeletal Signaling. Affiliated tissues include skin, bone and lung, and related phenotypes are behavior/neurological and cardiovascular system

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 : 72 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 117)
id Related Disease Score Top Affiliating Genes
1 myofibromatosis, infantile 2 11.6
2 myofibromatosis, infantile, 1 11.6
3 gigantism 10.5 DES MB
4 spleen cancer 10.4 DES MB
5 transitional cell carcinoma 10.4 DES MB
6 mucinous ovarian cystadenoma 10.4 DES MB
7 extraocular retinoblastoma 10.4 DES MB
8 moved to 122000 10.4 MB PDGFRB
9 marfanoid habitus-inguinal hernia-advanced bone age syndrome 10.4 ACTC1 DES
10 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.4 DES MB
11 telo2-related intellectual disability-neurodevelopmental disorder 10.4 ACTC1 DES
12 punctate palmoplantar keratoderma type 2 10.3 ACTC1 DES
13 liver angiosarcoma 10.3 ACTC1 DES
14 neurofibroma of the esophagus 10.3 ACTC1 DES
15 secondary pulmonary hemosiderosis 10.3 ACTC1 DES
16 alpha chain disease 10.3 CARMIL2 NDRG4 PDGFRB
17 splenic manifestation of prolymphocytic leukemia 10.3 ACTC1 DES
18 bladder cancer, childhood 10.2 ACTC1 NOTCH3
19 melanotic medulloblastoma 10.2 DES MB
20 neuromuscular junction disease 10.2 DES MB PDGFRB
21 lung clear cell-sugar-tumor 10.2 DES MB
22 vagina, absence of 10.2 DES MB PDGFRB
23 infantile scoliosis 10.2 DES VIM
24 lymphocytic infiltrate of jessner 10.1 DES VIM
25 mediastinum rhabdomyosarcoma 10.1 DES MB
26 intellectual disability-polydactyly-uncombable hair syndrome 10.1 DES VIM
27 premature aging syndrome, penttinen type 10.1 ACTC1 NOTCH3 PDGFRB
28 pineal region yolk sac tumor 10.1 DES VIM
29 mannose-binding lectin protein deficiency 10.1 DES VIM
30 cellular ependymoma 10.1 DES VIM
31 small intestine neuroendocrine neoplasm 10.1 DES VIM
32 space motion sickness 10.1 DES VIM
33 childhood pleomorphic rhabdomyosarcoma 10.1 DES VIM
34 vulvar squamous papilloma 10.1 DES VIM
35 extraskeletal mesenchymal chondrosarcoma 10.1 DES VIM
36 spondyloepimetaphyseal dysplasia, isidor type 10.1 DES VIM
37 myoepithelial carcinoma 10.0 DES VIM
38 skin glomus tumor 10.0 DES VIM
39 fibromatosis 10.0
40 mucin-rich endometrial endometrioid adenocarcinoma 10.0 DES VIM
41 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.0 ACTC1 DES
42 enamel hypoplasia cataract hydrocephaly 10.0 DES VIM
43 rhabdomyosarcoma 2, alveolar 10.0 DES MB
44 gangliosidosis gm2 10.0 ACTC1 DES
45 chondroblastoma 9.9 DES VIM
46 mediastinitis 9.9
47 intussusception 9.9
48 fibromuscular dysplasia 9.9
49 fibrosarcoma 9.9
50 myofibroma 9.9

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:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypercalcemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003072
2 intestinal obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0005214
3 gingival fibromatosis 56 32 frequent (33%) Frequent (79-30%) HP:0000169
4 tracheoesophageal fistula 56 32 occasional (7.5%) Occasional (29-5%) HP:0002575
5 osteolysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002797
6 chondrocalcinosis 56 32 frequent (33%) Frequent (79-30%) HP:0000934
7 irregular hyperpigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007400
8 abnormality of the eye 56 32 occasional (7.5%) Occasional (29-5%) HP:0000478
9 subcutaneous nodule 56 32 hallmark (90%) Very frequent (99-80%) HP:0001482
10 hemiplegia/hemiparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004374
11 abnormality of the thorax 56 32 frequent (33%) Frequent (79-30%) HP:0000765
12 limitation of joint mobility 56 32 occasional (7.5%) Occasional (29-5%) HP:0001376
13 abnormality of the skull 56 32 frequent (33%) Frequent (79-30%) HP:0000929
14 skin ulcer 56 32 occasional (7.5%) Occasional (29-5%) HP:0200042
15 abnormality of the kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0000077
16 abnormality of the musculature 56 32 hallmark (90%) Very frequent (99-80%) HP:0003011
17 neoplasm of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0008069
18 benign neoplasm of the central nervous system 56 32 occasional (7.5%) Occasional (29-5%) HP:0100835
19 neoplasm of the pancreas 56 32 occasional (7.5%) Occasional (29-5%) HP:0002894
20 abnormality of the hair 56 32 frequent (33%) Frequent (79-30%) HP:0001595
21 neoplasm of the lung 56 32 frequent (33%) Frequent (79-30%) HP:0100526
22 abnormality of the sacrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0005107
23 bone cyst 56 32 hallmark (90%) Very frequent (99-80%) HP:0012062
24 sarcoma 56 Very frequent (99-80%)
25 abnormality of the metaphyses 56 Very frequent (99-80%)
26 abnormality of the face 56 Frequent (79-30%)
27 fibroma 56 Very frequent (99-80%)
28 abnormality of the intestine 56 Frequent (79-30%)
29 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

MGI Mouse Phenotypes related to Infantile Myofibromatosis:

44
id 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 9.56 PDGFRB VIM ACTC1 DES MB MYH10
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:

id Genetic test Affiliating Genes
1 Infantile Myofibromatosis 29

Anatomical Context for Infantile Myofibromatosis

MalaCards organs/tissues related to Infantile Myofibromatosis:

39
Skin, Bone, Lung, Smooth Muscle, Heart, Kidney, Eye

Publications for Infantile Myofibromatosis

Articles related to Infantile Myofibromatosis:

(show top 50) (show all 201)
id Title Authors Year
1
PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis. ( 28334876 )
2017
2
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
3
Infantile myofibromatosis - a clinical and pathological diagnostic challenge. ( 28541875 )
2017
4
The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence. ( 28286173 )
2017
5
"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
6
A large mediastinal tumour invading into the liver with foetal hydrops: A rare case of infantile myofibromatosis. ( 28395635 )
2017
7
Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis. ( 28417142 )
2017
8
Whole-body magnetic resonance imaging in the diagnosis and follow-up of multicentric infantile myofibromatosis: A case report. ( 28413672 )
2017
9
CD34-positive infantile myofibromatosis: Case report and review of hemangiopericytoma-like pattern tumors. ( 27074874 )
2016
10
Intracranial Infantile Myofibromatosis Mimicking Malignant Brain Tumor: A Case Report and Literature Review. ( 27373934 )
2016
11
A case of advanced infantile myofibromatosis harboring a novel MYH10-RET fusion. ( 28028925 )
2016
12
Extracalvarial Composite Infantile Myofibromatosis: Case Report and Literature Review. ( 28018804 )
2016
13
An unusual cause of neonatal hip dislocation: Infantile myofibromatosis presenting as developmental dysplasia of the hip. ( 27646511 )
2016
14
Six Cases of Myofibroma--The Adult Counterpart of Infantile Myofibromatosis: Case Report. ( 26718074 )
2016
15
Infantile Myofibromatosis of the Soft Palate. ( 26080220 )
2015
16
Infantile myofibromatosis of uterus: A case report. ( 26905167 )
2015
17
Spontaneous Regression of an Infantile Scalp Tumor. Infantile myofibromatosis. ( 25692278 )
2015
18
Generalized infantile myofibromatosis with a monophasic primitive pattern. ( 25989870 )
2015
19
Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report. ( 26603035 )
2015
20
PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib. ( 26455322 )
2015
21
Infantile myofibromatosis: a series of 28 cases. ( 24894456 )
2014
22
Vincristine and Dactinomycin in Infantile Myofibromatosis With a Review of Treatment Options. ( 25389917 )
2014
23
Infantile myofibromatosis as an unusual cause for unilateral atelectasis in an infant. ( 24453022 )
2014
24
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis. ( 25241110 )
2014
25
Chemotherapy for Generalized Infantile Myofibromatosis With Visceral Involvement. ( 24608078 )
2014
26
Diagnosis of infantile myofibromatosis with pseudo-ulcerated plaque using prenatal ultrasound: A case report. ( 25371730 )
2014
27
Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG? ( 25158255 )
2014
28
Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI. ( 22118778 )
2014
29
Solitary infantile myofibromatosis in the bones of the upper extremities: Two rare cases and a review of the literature. ( 24179532 )
2013
30
Congenital solitary infantile myofibromatosis involving the spinal cord. ( 23082913 )
2013
31
Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. ( 23865785 )
2013
32
Prenatal diagnosis of infantile myofibromatosis of the lung: a case report and review of the literature. ( 23686518 )
2013
33
Recurrent infantile myofibromatosis in a 19-month-old boy presenting as ulcerated plaque. ( 24517046 )
2013
34
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. ( 23731537 )
2013
35
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. ( 23731542 )
2013
36
Ulcerated congenital tumor. Solitary infantile myofibromatosis. ( 23375150 )
2013
37
Multicentric infantile myofibromatosis of the small bowel detected by video capsule endoscopy in a child. ( 22814908 )
2012
38
Risk-adapted therapy for infantile myofibromatosis in children. ( 22038698 )
2012
39
Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance. ( 23217896 )
2012
40
Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement. ( 23223874 )
2012
41
Isolated infantile myofibromatosis of the upper eyelid: uncommon localization and long-term results after surgical management. ( 22813815 )
2012
42
Spontaneous remission of solitary-type infantile myofibromatosis. ( 21941483 )
2011
43
Rapid spontaneous regression of multicentric infantile myofibromatosis in the posterior fossa and lumbar vertebra. ( 20949273 )
2011
44
Infantile myofibromatosis: two families supporting autosomal dominant inheritance. ( 21834820 )
2011
45
Solitary infantile myofibromatosis of the cranial vault: case report. ( 21279363 )
2011
46
Stretched and sheared microcatheter retained after onyx embolization of infantile myofibromatosis. ( 21696669 )
2011
47
Infantile myofibromatosis: report of nine patients. ( 20199406 )
2010
48
A rare case of infantile myofibromatosis and review of literature. ( 19738495 )
2010
49
Development of renal and iliac aneurysms in a child with generalized infantile myofibromatosis. ( 19997940 )
2010
50
Giant recurrent infantile myofibromatosis of the leg in a 3 year-old. ( 19661669 )
2009

Variations for Infantile Myofibromatosis

ClinVar genetic disease variations for Infantile Myofibromatosis:

6
id 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.1978C> A (p.Pro660Thr) single nucleotide variant Pathogenic rs144050370 GRCh37 Chromosome 5, 149503858: 149503858
3 NOTCH3 NM_000435.2(NOTCH3): c.4556T> C (p.Leu1519Pro) single nucleotide variant Pathogenic rs367543285 GRCh37 Chromosome 19, 15285059: 15285059
4 PDGFRB NM_002609.3(PDGFRB): c.1998C> A (p.Asn666Lys) single nucleotide variant Pathogenic/Likely pathogenic rs864309711 GRCh38 Chromosome 5, 150124275: 150124275
5 PDGFRB NM_002609.3(PDGFRB): c.1699A> G (p.Lys567Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 150125553: 150125553
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.1615_1616insGAT (p.Ile538_Leu539insArg) insertion Pathogenic rs1060499541 GRCh38 Chromosome 5, 150126578: 150126579
9 PDGFRB NM_002609.3(PDGFRB): c.2549A> T (p.Asp850Val) single nucleotide variant Pathogenic rs1060499540 GRCh37 Chromosome 5, 149500488: 149500488
10 PDGFRB NM_002609.3(PDGFRB): c.1696T> C (p.Trp566Arg) single nucleotide variant Pathogenic rs1060499542 GRCh38 Chromosome 5, 150125556: 150125556

Cosmic variations for Infantile Myofibromatosis:

9
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM584 NRAS skin,neck,benign melanocytic nevus,congenital c.182A>G p.Q61R 7
2 COSM580 NRAS skin,hand,benign melanocytic nevus,congenital c.181C>A p.Q61K 6
3 COSM476 BRAF skin,trunk,benign melanocytic nevus,congenital c.1799T>A p.V600E 6
4 COSM28757 GNAQ skin,hand,benign melanocytic nevus,cellular c.626A>T p.Q209L 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.97 NOTCH3 PDGFRB VIM
2 11.74 ACTC1 DES MYH10 VIM
3 11.27 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:

id Name GO ID Score Top Affiliating Genes
1 cell leading edge GO:0031252 9.26 CARMIL2 VIM
2 extracellular exosome GO:0070062 9.17 ACTC1 DES MB MYH10 PDGFRB PTPRG
3 intermediate filament cytoskeleton GO:0045111 9.16 CARMIL2 DES
4 lamellipodium GO:0030027 9.13 ACTC1 CARMIL2 MYH10

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

id Name GO ID Score Top Affiliating Genes
1 actomyosin structure organization GO:0031032 9.32 ACTC1 MYH10
2 intermediate filament organization GO:0045109 9.26 DES VIM
3 actin filament-based movement GO:0030048 9.16 ACTC1 MYH10
4 cardiac myofibril assembly GO:0055003 8.96 ACTC1 PDGFRB
5 muscle filament sliding GO:0030049 8.8 ACTC1 DES VIM

Sources for Infantile Myofibromatosis

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