MCID: INF049
MIFTS: 43

Infantile Myofibromatosis malady

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

Aliases & Classifications for Infantile Myofibromatosis

Aliases & Descriptions 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:



External Ids:

Disease Ontology 12 DOID:0080109
Orphanet 56 ORPHA2591
ICD10 via Orphanet 34 D48.1
UMLS via Orphanet 70 C0432284

Summaries for Infantile Myofibromatosis

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.

MalaCards based summary : Infantile Myofibromatosis, also known as myofibromatosis, is related to myofibromatosis, infantile, 1 and myofibromatosis, infantile 2, and has symptoms including abnormality of the eye, subcutaneous nodule and hemiplegia/hemiparesis. An important gene associated with Infantile Myofibromatosis is PDGFRB (Platelet Derived Growth Factor Receptor Beta), and among its related pathways/superpathways are Angiogenesis (CST) and Alzheimers Disease Pathway. Affiliated tissues include skin, bone and lung, and related phenotypes are behavior/neurological and cardiovascular system

Wikipedia : 71 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 109)
id Related Disease Score Top Affiliating Genes
1 myofibromatosis, infantile, 1 11.6
2 myofibromatosis, infantile 2 11.1
3 mixed type rhabdomyosarcoma 10.2 DES MB
4 glaucoma iridogoniodysgenesia 10.2 DES MB
5 verruciform xanthoma of skin 10.2 DES MB
6 intrahepatic bile duct cystadenoma 10.2 DES MB
7 transitional cell carcinoma 10.2 DES MB
8 ovarian cystadenoma 10.2 DES MB
9 reticulohistiocytic granuloma 10.2 DES MB
10 bile duct rhabdomyosarcoma 10.2 DES MB
11 oral erosive lichen 10.2 ACTC1 DES
12 extracutaneous mastocytoma 10.2 DES MB
13 carbon monoxide-induced parkinsonism 10.2 ACTC1 DES
14 vagina leiomyosarcoma 10.2 ACTC1 DES
15 bone deterioration disease 10.2 DES MB
16 rectal neoplasm 10.2 DES MB
17 episodic ataxia 10.2 ACTC1 DES
18 inflammatory linear verrucous epidermal nevus 10.2 DES VIM
19 lymphomatous thyroiditis 10.2 DES VIM
20 pustulosis palmaris et plantaris 10.2 ACTC1 DES
21 marfanoid hypermobility syndrome 10.1 DES VIM
22 orbital margin, hypoplasia of 10.1 MB PDGFRB
23 adult endodermal sinus tumor 10.1 DES VIM
24 biliary papillomatosis 10.1 DES VIM
25 tanycytic ependymoma 10.1 DES VIM
26 liver angiosarcoma 10.1 DES VIM
27 cavernous sinus meningioma 10.1 DES VIM
28 male reproductive system disease 10.1 DES VIM
29 house allergic alveolitis 10.1 ACTC1 DES
30 petrous apex meningioma 10.1 DES VIM
31 vulvar squamous papilloma 10.1 DES VIM
32 van regemorter pierquin vamos syndrome 10.1 DES MB PDGFRB
33 kosaki overgrowth syndrome 10.1 ACTC1 NOTCH3 PDGFRB
34 anal gland neoplasm 10.1 DES VIM
35 lymphomatoid papulosis 10.1 ACTC1 VIM
36 chest wall parachordoma 10.1 ACTC1 VIM
37 tinea favosa 10.1 ACTC1 DES
38 gamma heavy chain disease 10.1 CARMIL2 NDRG4 PDGFRB
39 isolated anterior cervical hypertrichosis 10.1 ACTC1 VIM
40 skin glomus tumor 10.1 DES VIM
41 bone dysplasia azouz type 10.1 ACTC1 NOTCH3
42 congenital muscular dystrophy with hyperlaxity 10.1 DES VIM
43 conjunctival cancer 10.1 ACTC1 VIM
44 testicular granulosa cell tumor 10.1 ACTC1 VIM
45 lymphangiosarcoma 10.0 ACTC1 VIM
46 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 10.0 ACTC1 VIM
47 spindle cell rhabdomyosarcoma 10.0 ACTC1 DES MB
48 cauda equina intradural extramedullary astrocytoma 10.0 ACTC1 VIM
49 fibromatosis 10.0
50 advanced sleep-phase syndrome, familial, 2 10.0 DES MB VIM

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

MGI Mouse Phenotypes related to Infantile Myofibromatosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 CARMIL2 DES NDRG4 NOTCH3 NTRK3 PDGFRB
2 cardiovascular system MP:0005385 9.5 ACTC1 DES MB NOTCH3 NTRK3 PDGFRB
3 muscle MP:0005369 9.1 ACTC1 DES MB NOTCH3 PDGFRB VIM

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, Kidney, Eye, Pancreas, Uterus

Publications for Infantile Myofibromatosis

Articles related to Infantile Myofibromatosis:

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

Variations for Infantile Myofibromatosis

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.1697_1702delGGAAGG (p.Trp566_Val568delinsLeu) deletion Pathogenic rs1060499543 GRCh37 Chromosome 5, 149505113: 149505118
6 PDGFRB NM_002609.3(PDGFRB): c.1998C> G (p.Asn666Lys) single nucleotide variant Pathogenic rs864309711 GRCh37 Chromosome 5, 149503838: 149503838
7 PDGFRB NM_002609.3(PDGFRB): c.1615_1616insGAT (p.Ile538_Leu539insArg) insertion Pathogenic rs1060499541 GRCh37 Chromosome 5, 149506141: 149506142
8 PDGFRB NM_002609.3(PDGFRB): c.2549A> T (p.Asp850Val) single nucleotide variant Pathogenic rs1060499540 GRCh37 Chromosome 5, 149500488: 149500488
9 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 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.07 NDRG4 NOTCH3 PDGFRB
2 10.91 NTRK3 PDGFRB
3
Show member pathways
10.81 DES VIM
4 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 intermediate filament cytoskeleton GO:0045111 8.96 CARMIL2 DES
2 cell leading edge GO:0031252 8.62 CARMIL2 VIM

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.5 CARMIL2 NTRK3 PDGFRB
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.33 NTRK3 PDGFRB PTPRG
3 intermediate filament organization GO:0045109 9.26 DES VIM
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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