IMF1
MCID: MYF007
MIFTS: 40

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 58
Congenital Generalized Fibromatosis 77 54 76
Infantile Myofibromatosis 1 30 6
Myofibromatosis 45 74
Imf1 58 76
Cgf 58 76
Fibromatosis, Congenital Generalized; Cgf 58
Fibromatosis, Congenital Generalized 58
Myofibromatosis, Infantile, Type 1 41
Myofibromatosis, Infantile 1 76
Myofibromatosis, Juvenile 58
Infantile Myofibromatosis 74
Juvenile Myofibromatosis 76

Characteristics:

OMIM:

58
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:

33
myofibromatosis, infantile, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 228550
MeSH 45 D018224
SNOMED-CT via HPO 70 112682009 263681008 424568000

Summaries for Myofibromatosis, Infantile, 1

UniProtKB/Swiss-Prot : 76 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 MicroRNAs in cancer and Angiogenesis (CST). The drug Cola has 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 : 58 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 : 77 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 all 41)
# Related Disease Score Top Affiliating Genes
1 infantile myofibromatosis 33.3 PDGFRB NOTCH3 ACTC1
2 myopericytoma 30.0 PDGFRB ACTC1
3 peroxisome biogenesis disorder 5a 11.7
4 myofibroma 11.5
5 myofibromatosis, infantile, 2 11.2
6 peroxisome biogenesis disorder 5b 11.1
7 dupuytren contracture 11.1
8 pityriasis rubra pilaris 10.3
9 hemangiopericytoma, malignant 10.3
10 microtia 10.1
11 fibromatosis 10.1
12 fibromuscular dysplasia 10.1
13 intussusception 10.1
14 fibrosarcoma 10.1
15 congenital fibrosarcoma 10.1
16 pelvic organ prolapse 9.9
17 hemochromatosis, neonatal 9.9
18 hemochromatosis, type 1 9.9
19 autosomal dominant disease 9.9
20 osteomyelitis 9.9
21 dermoid cyst 9.9
22 myoma 9.9
23 gingival overgrowth 9.9
24 muscle cancer 9.9
25 leiomyomatosis 9.9
26 intravenous leiomyomatosis 9.9
27 intestinal obstruction 9.9
28 exophthalmos 9.9
29 juvenile hereditary hemochromatosis 9.9
30 chromosomal triplication 9.9
31 xp22.3 microdeletion syndrome 9.9
32 cutis marmorata telangiectatica congenita 9.9
33 fibroma 9.9
34 porencephaly 9.9
35 gingival hypertrophy 9.9
36 dermatofibrosarcoma protuberans 9.9 ACTC1 PDGFRB
37 leiomyosarcoma 9.8 ACTC1 PDGFRB
38 endometrial stromal sarcoma 9.8 ACTC1 PDGFRB
39 binswanger's disease 9.8 NOTCH3 ACTC1
40 gastrointestinal stromal tumor 9.7 ACTC1 PDGFRB
41 rhabdomyosarcoma 9.6 ACTC1 PDGFRB

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:

33
# Description HPO Frequency HPO Source Accession
1 fibroma 33 HP:0010614
2 abnormality of connective tissue 33 HP:0003549

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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):


# 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 Study of Oral LOXO-292 in Pediatric Patients With Advanced 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 30 PDGFRB

Anatomical Context for Myofibromatosis, Infantile, 1

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

42
Skin, Bone, Spinal Cord

Publications for Myofibromatosis, Infantile, 1

Articles related to Myofibromatosis, Infantile, 1:

(show all 28)
# Title Authors Year
1
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. ( 23731537 )
2013
2
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. ( 23731542 )
2013
3
Autosomal dominant inheritance of infantile myofibromatosis. ( 15054839 )
2004
4
Congenital generalized fibromatosis. Extraosseous accumulation of bone seeking radiopharmaceutical. ( 8732847 )
1996
5
Solitary fibromatosis of bone. A rare variant of congenital generalized fibromatosis. ( 1993381 )
1991
6
Congenital generalized fibromatosis. ( 2369033 )
1990
7
Congenital generalized fibromatosis with predominant osseous involvement in a Chinese newborn. ( 2915040 )
1989
8
Congenital generalized fibromatosis: a new management strategy provided by magnetic resonance imaging. ( 3591755 )
1987
9
Congenital generalized fibromatosis causing spinal cord compression. ( 4043956 )
1985
10
Congenital generalized fibromatosis: a review of the literature and report of a case associated with porencephaly, hemiatrophy, and cutis marmorata telangiectatica congenita. ( 6368619 )
1984
11
Dermoid of the cornea in association with congenital generalized fibromatosis. A case report. ( 6659899 )
1983
12
Congenital generalized fibromatosis. Case report and literature review. ( 7162878 )
1982
13
Localized form of congenital generalized fibromatosis. A report of 3 cases with myofibroblasts. ( 6454877 )
1981
14
Ultrastructural studies on congenital generalized fibromatosis regressed spontaneously. ( 7324042 )
1981
15
Congenital generalized fibromatosis with visceral involvement. A case report. ( 7260846 )
1980
16
Congenital solitary fibromatosis of the skeleton: case report of a variant of congenital generalized fibromatosis. ( 630542 )
1978
17
Congenital solitary fibromatosis of soft tissues, a variant of congenital generalized fibromatosis. 2 cases reports. ( 920181 )
1977
18
Congenital generalized fibromatosis: a case report with roentgen manifestations of the skeleton. ( 819961 )
1976
19
Congenital generalized fibromatosis. An African case with gingival hypertrophy and other unusual features. ( 1086595 )
1976
20
Congenital generalized fibromatosis: an autosomal recessive condition? ( 1269171 )
1976
21
Congenital generalized fibromatosis. ( 1227549 )
1975
22
Fibroma of the cornea. Report of a case associated with congenital generalized fibromatosis. ( 4621153 )
1974
23
Congenital generalized fibromatosis with complete spontaneous regression. A case report. ( 5055162 )
1972
24
Congenital generalized fibromatosis: A case limited to osseous lesions. ( 5055163 )
1972
25
Congenital generalized fibromatosis (renal and skeletal) with complete spontaneous regression. ( 13980570 )
1963
26
Congenital generalized fibromatosis in infancy. ( 13866186 )
1962
27
Congenital generalized fibromatosis. Case report, with roentgen manifestations. ( 13694986 )
1961
28
Congenital generalized fibromatosis. ( 13523573 )
1958

Variations for Myofibromatosis, Infantile, 1

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

76
# Symbol AA change Variation ID SNP ID
1 PDGFRB p.Arg561Cys VAR_069925 rs367543286
2 PDGFRB p.Pro660Thr VAR_069926 rs144050370

ClinVar genetic disease variations for Myofibromatosis, Infantile, 1:

6 (show top 50) (show all 54)
# 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 rs1554108389 GRCh38 Chromosome 5, 150125553: 150125553
14 PDGFRB NM_002609.3(PDGFRB): c.1699A> G (p.Lys567Glu) single nucleotide variant Pathogenic rs1554108389 GRCh37 Chromosome 5, 149505116: 149505116
15 PDGFRB NM_002609.3(PDGFRB): c.1033C> T (p.Pro345Ser) single nucleotide variant Benign/Likely benign rs2229558 GRCh37 Chromosome 5, 149512407: 149512407
16 PDGFRB NM_002609.3(PDGFRB): c.1033C> T (p.Pro345Ser) single nucleotide variant Benign/Likely benign rs2229558 GRCh38 Chromosome 5, 150132844: 150132844
17 PDGFRB NM_002609.3(PDGFRB): c.1854G> A (p.Thr618=) single nucleotide variant Benign rs56072663 GRCh37 Chromosome 5, 149504348: 149504348
18 PDGFRB NM_002609.3(PDGFRB): c.1854G> A (p.Thr618=) single nucleotide variant Benign rs56072663 GRCh38 Chromosome 5, 150124785: 150124785
19 PDGFRB NM_002609.3(PDGFRB): c.1505G> A (p.Arg502Gln) single nucleotide variant Benign rs148974733 GRCh37 Chromosome 5, 149509394: 149509394
20 PDGFRB NM_002609.3(PDGFRB): c.1505G> A (p.Arg502Gln) single nucleotide variant Benign rs148974733 GRCh38 Chromosome 5, 150129831: 150129831
21 PDGFRB NM_002609.3(PDGFRB): c.3119G> T (p.Gly1040Val) single nucleotide variant Benign rs149417689 GRCh37 Chromosome 5, 149497199: 149497199
22 PDGFRB NM_002609.3(PDGFRB): c.3119G> T (p.Gly1040Val) single nucleotide variant Benign rs149417689 GRCh38 Chromosome 5, 150117636: 150117636
23 PDGFRB NM_002609.3(PDGFRB): c.1149G> C (p.Leu383=) single nucleotide variant Benign rs2228439 GRCh37 Chromosome 5, 149511636: 149511636
24 PDGFRB NM_002609.3(PDGFRB): c.1149G> C (p.Leu383=) single nucleotide variant Benign rs2228439 GRCh38 Chromosome 5, 150132073: 150132073
25 PDGFRB NM_002609.3(PDGFRB): c.365-4G> T single nucleotide variant Benign rs139448702 GRCh37 Chromosome 5, 149514583: 149514583
26 PDGFRB NM_002609.3(PDGFRB): c.365-4G> T single nucleotide variant Benign rs139448702 GRCh38 Chromosome 5, 150135020: 150135020
27 PDGFRB NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 GRCh37 Chromosome 5, 149499657: 149499657
28 PDGFRB NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 GRCh38 Chromosome 5, 150120094: 150120094
29 PDGFRB NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 GRCh38 Chromosome 5, 150129883: 150129883
30 PDGFRB NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 GRCh37 Chromosome 5, 149509446: 149509446
31 PDGFRB NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 GRCh37 Chromosome 5, 149509508: 149509508
32 PDGFRB NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 GRCh38 Chromosome 5, 150129945: 150129945
33 PDGFRB NM_002609.3(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 GRCh37 Chromosome 5, 149515380: 149515380
34 PDGFRB NM_002609.3(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 GRCh38 Chromosome 5, 150135817: 150135817
35 PDGFRB NM_002609.3(PDGFRB): c.2023+5C> T single nucleotide variant Uncertain significance rs369842668 GRCh38 Chromosome 5, 150124245: 150124245
36 PDGFRB NM_002609.3(PDGFRB): c.2023+5C> T single nucleotide variant Uncertain significance rs369842668 GRCh37 Chromosome 5, 149503808: 149503808
37 PDGFRB NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=) single nucleotide variant Benign rs56078873 GRCh38 Chromosome 5, 150125491: 150125491
38 PDGFRB NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=) single nucleotide variant Benign rs56078873 GRCh37 Chromosome 5, 149505054: 149505054
39 PDGFRB NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 GRCh38 Chromosome 5, 150129864: 150129864
40 PDGFRB NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 GRCh37 Chromosome 5, 149509427: 149509427
41 PDGFRB NM_002609.3(PDGFRB): c.2844G> A (p.Arg948=) single nucleotide variant Benign rs55647240 GRCh37 Chromosome 5, 149498370: 149498370
42 PDGFRB NM_002609.3(PDGFRB): c.2844G> A (p.Arg948=) single nucleotide variant Benign rs55647240 GRCh38 Chromosome 5, 150118807: 150118807
43 PDGFRB NC_000005.10: g.(?_150124230)_(150137067_?)dup duplication Uncertain significance GRCh38 Chromosome 5, 150124230: 150137067
44 PDGFRB NC_000005.10: g.(?_150124230)_(150137067_?)dup duplication Uncertain significance GRCh37 Chromosome 5, 149503793: 149516630
45 PDGFRB NM_002609.3(PDGFRB): c.1217A> G (p.Gln406Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 149511568: 149511568
46 PDGFRB NM_002609.3(PDGFRB): c.1217A> G (p.Gln406Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 150132005: 150132005
47 PDGFRB NM_002609.3(PDGFRB): c.484G> A (p.Glu162Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 149514460: 149514460
48 PDGFRB NM_002609.3(PDGFRB): c.484G> A (p.Glu162Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 150134897: 150134897
49 PDGFRB NM_002609.3(PDGFRB): c.2939G> A (p.Ser980Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 150117816: 150117816
50 PDGFRB NM_002609.3(PDGFRB): c.2939G> A (p.Ser980Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 149497379: 149497379

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 11.43 NOTCH3 PDGFRB
2 10.57 NOTCH3 PDGFRB

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 focal adhesion GO:0005925 8.96 ACTC1 PDGFRB
2 receptor complex GO:0043235 8.62 NOTCH3 PDGFRB

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 NOTCH3 PDGFRB
2 cardiac myofibril assembly GO:0055003 8.62 ACTC1 PDGFRB

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 NOTCH3 PDGFRB

Sources for Myofibromatosis, Infantile, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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