IMF1
MCID: MYF007
MIFTS: 44

Myofibromatosis, Infantile, 1 (IMF1)

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

Aliases & Classifications for Myofibromatosis, Infantile, 1

MalaCards integrated aliases for Myofibromatosis, Infantile, 1:

Name: Myofibromatosis, Infantile, 1 56
Congenital Generalized Fibromatosis 74 73
Infantile Myofibromatosis 1 29 6
Myofibromatosis 43 71
Imf1 56 73
Cgf 56 73
Fibromatosis, Congenital Generalized; Cgf 56
Fibromatosis, Congenital Generalized 56
Myofibromatosis, Infantile, Type 1 39
Myofibromatosis, Infantile 1 73
Myofibromatosis, Juvenile 56
Infantile Myofibromatosis 71
Juvenile Myofibromatosis 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in early childhood
tumors may show spontaneous regression
visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin
solitary disease is more common in males


HPO:

31
myofibromatosis, infantile, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 228550
OMIM Phenotypic Series 56 PS228550
MeSH 43 D018224
SNOMED-CT via HPO 68 112682009 263681008 424568000
UMLS 71 C0206648 C0432284

Summaries for Myofibromatosis, Infantile, 1

UniProtKB/Swiss-Prot : 73 Myofibromatosis, infantile 1: A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality.

MalaCards based summary : Myofibromatosis, Infantile, 1, also known as congenital generalized fibromatosis, is related to infantile myofibromatosis and myopericytoma. An important gene associated with Myofibromatosis, Infantile, 1 is PDGFRB (Platelet Derived Growth Factor Receptor Beta), and among its related pathways/superpathways are Glioma and MicroRNAs in cancer. The drugs Methotrexate and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and spinal cord, and related phenotypes are fibroma and abnormality of connective tissue

OMIM : 56 Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life (summary by Arcangeli and Calista, 2006). (228550)

Wikipedia : 74 Infantile myofibromatosis is the most common fibrous tumor of infancy, in which eighty percent of... more...

Related Diseases for Myofibromatosis, Infantile, 1

Diseases in the Infantile Myofibromatosis family:

Myofibromatosis, Infantile, 1 Myofibromatosis, Infantile, 2

Diseases related to Myofibromatosis, Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 infantile myofibromatosis 33.2 PDGFRB NOTCH3 ACTC1
2 myopericytoma 30.1 PDGFRB ACTC1
3 malignant fibroxanthoma 29.6 PDGFRB ACTC1
4 leiomyosarcoma 29.5 PDGFRB ACTC1
5 hemangioma 29.0 NOTCH3 ACTC1
6 rhabdomyosarcoma 28.9 PDGFRB ACTC1
7 peroxisome biogenesis disorder 5a 11.9
8 myofibroma 11.6
9 myofibromatosis, infantile, 2 11.3
10 peroxisome biogenesis disorder 5b 11.3
11 dupuytren contracture 11.3
12 rapidly involuting congenital hemangioma 10.4
13 histiocytosis 10.2
14 fibromatosis 10.2
15 chronic venous insufficiency 10.2
16 venous insufficiency 10.2
17 plague 10.2
18 microtia 10.2
19 langerhans cell histiocytosis 10.2
20 respiratory failure 10.2
21 rare tumor 10.2
22 fibromuscular dysplasia 10.1
23 osteomyelitis 10.1
24 brain compression 10.1
25 mesenchymal cell neoplasm 10.1
26 pseudosarcomatous fibromatosis 10.1
27 fasciitis 10.1
28 overgrowth syndrome 10.1
29 fibrosarcoma 10.1
30 intussusception 10.0
31 meningioma, radiation-induced 10.0
32 meningioma, familial 10.0
33 suppression amblyopia 10.0
34 amblyopia 10.0
35 spinal meningioma 10.0
36 diarrhea 10.0
37 obstructive jaundice 10.0
38 giant cell tumor 10.0
39 glomus tumor 10.0
40 secretory meningioma 10.0
41 lymphoplasmacyte-rich meningioma 10.0
42 paget's disease of bone 10.0
43 neuroblastoma 10.0
44 intestinal obstruction 10.0
45 chromosomal triplication 10.0
46 rare soft tissue tumor 10.0
47 fibroma 10.0
48 neurofibromatosis, type iv, of riccardi 10.0
49 congenital fibrosarcoma 10.0
50 intestinal perforation 9.9

Graphical network of the top 20 diseases related to Myofibromatosis, Infantile, 1:



Diseases related to Myofibromatosis, Infantile, 1

Symptoms & Phenotypes for Myofibromatosis, Infantile, 1

Human phenotypes related to Myofibromatosis, Infantile, 1:

31
# Description HPO Frequency HPO Source Accession
1 fibroma 31 HP:0010614
2 abnormality of connective tissue 31 HP:0003549
3 myofibromatosis 31 HP:0020135

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
myofibromatosis affecting skin, muscle, bone, and viscera
small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk
benign soft tissue developmental anomalies
dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology

Clinical features from OMIM:

228550

MGI Mouse Phenotypes related to Myofibromatosis, Infantile, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.13 ACTC1 NOTCH3 PDGFRB
2 normal MP:0002873 8.8 ACTC1 NOTCH3 PDGFRB

Drugs & Therapeutics for Myofibromatosis, Infantile, 1

Drugs for Myofibromatosis, Infantile, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
2
leucovorin Approved Phase 2 58-05-9 6006 143
3
Vinblastine Approved Phase 2 865-21-4 13342 241903
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
5 Folic Acid Antagonists Phase 2
6 Immunosuppressive Agents Phase 2
7 Vitamin B Complex Phase 2
8 Immunologic Factors Phase 2
9 Dermatologic Agents Phase 2
10 Folate Phase 2
11 Antimetabolites Phase 2
12 Antirheumatic Agents Phase 2
13 Antimitotic Agents Phase 2
14 Vitamin B9 Phase 2
15 Cola Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vinblastine and Methotrexate in Children With Multivessel Pulmonary Vein Stenosis-A Phase II Study Completed NCT00215046 Phase 2 Vinblastine;Methotrexate
2 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 Myofibromatosis, Infantile, 1

Cochrane evidence based reviews: myofibromatosis

Genetic Tests for Myofibromatosis, Infantile, 1

Genetic tests related to Myofibromatosis, Infantile, 1:

# Genetic test Affiliating Genes
1 Infantile Myofibromatosis 1 29 PDGFRB

Anatomical Context for Myofibromatosis, Infantile, 1

MalaCards organs/tissues related to Myofibromatosis, Infantile, 1:

40
Skin, Bone, Spinal Cord, Breast

Publications for Myofibromatosis, Infantile, 1

Articles related to Myofibromatosis, Infantile, 1:

(show all 41)
# Title Authors PMID Year
1
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. 6 56
23731537 2013
2
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. 56 6
23731542 2013
3
Autosomal dominant inheritance of infantile myofibromatosis. 56 6
15054839 2004
4
Infantile myofibromatosis: two families supporting autosomal dominant inheritance. 56
21834820 2011
5
Congenital myofibromatosis in two siblings. 56
16581573 2006
6
Endocardial location of familial myofibromatosis revealed by cerebral embolization: cardiac counterpart of the frequent intravascular growth of the disease? 56
15024647 2004
7
Infantile myofibromatosis: support for autosomal dominant inheritance. 56
12894106 2003
8
Four half-siblings with infantile myofibromatosis: a case for autosomal-recessive inheritance. 56
11260217 2001
9
Familial occurrence of infantile myofibromatosis. 56
1739928 1992
10
Multicentric fibromatosis of familial inheritance. 56
3632306 1987
11
Infantile myofibromatosis. Report of two cases in one family. 56
3651344 1987
12
Congenital generalized fibromatosis causing spinal cord compression. 56
4043956 1985
13
Infantile myofibromatosis. Evidence for an autosomal-dominant disorder. 56
6742314 1984
14
Congenital generalised fibromatosis. 56
7149764 1982
15
Infantile myofibromatosis. 56
7284977 1981
16
Congenital generalized fibromatosis. An African case with gingival hypertrophy and other unusual features. 56
1086595 1976
17
Congenital generalized fibromatosis: an autosomal recessive condition? 56
1269171 1976
18
Congenital multiple fibromatosis. A case report with review of the world literature. 56
4704028 1973
19
Congenital generalized fibromatosis: A case limited to osseous lesions. 56
5055163 1972
20
[Familial congenital generalized fibromatosis in two half-sisters]. 56
5141795 1971
21
CONGENITAL MESENCHYMAL TUMORS. 56
14278043 1965
22
Congenital generalized fibromatosis (renal and skeletal) with complete spontaneous regression. 56
13980570 1963
23
Multiple congenital neoplasms of soft tissues. Report of 4 cases in 1 family. 56
13687446 1961
24
Congenital generalized fibromatosis. 56
13523573 1958
25
Juvenile fibromatoses. 56
13199773 1954
26
Intrinsic Frequencies of the Resting-State fMRI Signal: The Frequency Dependence of Functional Connectivity and the Effect of Mode Mixing. 61
31551676 2019
27
Design and implementation of a hybrid model based on two-layer decomposition method coupled with extreme learning machines to support real-time environmental monitoring of water quality parameters. 61
30138884 2019
28
A Method to Improve the Imaging Quality in Dual-Wavelength Digital Holographic Microscopy. 61
30405871 2018
29
Two-dimensional empirical mode decomposition of heavy metal spatial variation in agricultural soils, Southeast China. 61
28161862 2017
30
Emotion Recognition from EEG Signals Using Multidimensional Information in EMD Domain. 61
28900626 2017
31
Comparison of FFT and marginal spectra of EEG using empirical mode decomposition to monitor anesthesia. 61
28110742 2016
32
Analysis of spike waves in epilepsy using Hilbert-Huang transform. 61
25472728 2015
33
Preoperative assessment tool for the planning of inframammary incision and implant profile in breast augmentation. 61
25060928 2014
34
Empirical Mode Decomposition of simulated and real ultrasonic Doppler signals of periodic fetal activity. 61
24746537 2014
35
An improved quantitative analysis method for plant cortical microtubules. 61
24744684 2014
36
Arterial stiffness using radial arterial waveforms measured at the wrist as an indicator of diabetic control in the elderly. 61
20923726 2011
37
Effects of extended dry storage of powdered infant milk formula on susceptibility of Enterobacter sakazakii to hot water and ionizing radiation. 61
18522026 2008
38
Milk yield and mammary growth effects due to increased milking frequency during early lactation. 61
12836942 2003
39
Computer simulation of the interaction of non-steroidal anti-inflammatory drugs: indoprofen and NS398 with cyclooxygenase. 61
10217458 1999
40
Effect of anatomical location on the composition of fatty acids in double-muscled Belgian Blue cows. 61
22060808 1998
41
[Facial myofibroma of the newborn simulating sarcoma]. 54
9615114 1996

Variations for Myofibromatosis, Infantile, 1

ClinVar genetic disease variations for Myofibromatosis, Infantile, 1:

6 (show all 27) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDGFRB NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)SNV Pathogenic 55848 rs367543286 5:149505134-149505134 5:150125571-150125571
2 PDGFRB NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr)SNV Pathogenic 55849 rs144050370 5:149503858-149503858 5:150124295-150124295
3 NOTCH3 NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro)SNV Pathogenic 55850 rs367543285 19:15285059-15285059 19:15174248-15174248
4 PDGFRB NM_002609.4(PDGFRB):c.1699A>G (p.Lys567Glu)SNV Pathogenic 375237 rs1554108389 5:149505116-149505116 5:150125553-150125553
5 PDGFRB NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys)SNV Pathogenic/Likely pathogenic 218935 rs864309711 5:149503838-149503838 5:150124275-150124275
6 PDGFRB NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg)SNV Conflicting interpretations of pathogenicity 375682 rs1060499542 5:149505119-149505119 5:150125556-150125556
7 PDGFRB NM_002609.4(PDGFRB):c.2023+5C>TSNV Uncertain significance 540599 rs369842668 5:149503808-149503808 5:150124245-150124245
8 PDGFRB NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala)SNV Uncertain significance 540600 rs540480924 5:149509427-149509427 5:150129864-150129864
9 PDGFRB NC_000005.9:g.(?_149503793)_(149516630_?)dupduplication Uncertain significance 584307 5:149503793-149516630 5:150124230-150137067
10 PDGFRB NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys)SNV Uncertain significance 582961 rs1562011077 5:149514460-149514460 5:150134897-150134897
11 PDGFRB NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn)SNV Uncertain significance 576602 rs1561984983 5:149497379-149497379 5:150117816-150117816
12 PDGFRB NM_002609.4(PDGFRB):c.2464-3C>TSNV Uncertain significance 572749 5:149500576-149500576 5:150121013-150121013
13 PDGFRB NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe)SNV Uncertain significance 581888 rs1312583190 5:149510123-149510123 5:150130560-150130560
14 PDGFRB NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)SNV Benign/Likely benign 377063 rs2229558 5:149512407-149512407 5:150132844-150132844
15 PDGFRB NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)SNV Benign/Likely benign 286389 rs41287108 5:149500514-149500514 5:150120951-150120951
16 PDGFRB NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=)SNV Benign 540601 rs55647240 5:149498370-149498370 5:150118807-150118807
17 PDGFRB NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=)SNV Benign 540602 rs56078873 5:149505054-149505054 5:150125491-150125491
18 PDGFRB NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)SNV Benign 473403 rs148974733 5:149509394-149509394 5:150129831-150129831
19 PDGFRB NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val)SNV Benign 473406 rs149417689 5:149497199-149497199 5:150117636-150117636
20 PDGFRB NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)SNV Benign 473400 rs2228439 5:149511636-149511636 5:150132073-150132073
21 PDGFRB NM_002609.4(PDGFRB):c.365-4G>TSNV Benign 473407 rs139448702 5:149514583-149514583 5:150135020-150135020
22 PDGFRB NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)SNV Benign 258780 rs17110944 5:149515397-149515397 5:150135834-150135834
23 PDGFRB NM_002609.4(PDGFRB):c.102C>T (p.Val34=)SNV Benign 473399 rs17708515 5:149515380-149515380 5:150135817-150135817
24 PDGFRB NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)SNV Benign 473401 rs74943037 5:149509508-149509508 5:150129945-150129945
25 PDGFRB NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)SNV Benign 473402 rs41287110 5:149509446-149509446 5:150129883-150129883
26 PDGFRB NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=)SNV Benign 473405 rs148709288 5:149499657-149499657 5:150120094-150120094
27 PDGFRB NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)SNV Benign 473404 rs56072663 5:149504348-149504348 5:150124785-150124785

UniProtKB/Swiss-Prot genetic disease variations for Myofibromatosis, Infantile, 1:

73
# Symbol AA change Variation ID SNP ID
1 PDGFRB p.Arg561Cys VAR_069925 rs367543286
2 PDGFRB p.Pro660Thr VAR_069926 rs144050370

Expression for Myofibromatosis, Infantile, 1

Search GEO for disease gene expression data for Myofibromatosis, Infantile, 1.

Pathways for Myofibromatosis, Infantile, 1

Pathways related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 PDGFRB NOTCH3
2 11.45 PDGFRB NOTCH3
3 10.57 PDGFRB NOTCH3

GO Terms for Myofibromatosis, Infantile, 1

Cellular components related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 8.96 NOTCH3 ACTC1
2 receptor complex GO:0043235 8.62 PDGFRB NOTCH3

Biological processes related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of smooth muscle cell proliferation GO:0048661 8.96 PDGFRB NOTCH3
2 cardiac myofibril assembly GO:0055003 8.62 PDGFRB ACTC1

Molecular functions related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.62 PDGFRB NOTCH3

Sources for Myofibromatosis, Infantile, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....