MCID: MYF007
MIFTS: 37

Myofibromatosis, Infantile, 1

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

Aliases & Classifications for Myofibromatosis, Infantile, 1

MalaCards integrated aliases for Myofibromatosis, Infantile, 1:

Name: Myofibromatosis, Infantile, 1 57
Congenital Generalized Fibromatosis 76 53 75
Infantile Myofibromatosis 1 29 6
Myofibromatosis 44 73
Imf1 57 75
Cgf 57 75
Fibromatosis, Congenital Generalized; Cgf 57
Fibromatosis, Congenital Generalized 57
Myofibromatosis, Infantile, Type 1 40
Myofibromatosis, Infantile 1 75
Myofibromatosis, Juvenile 57
Infantile Myofibromatosis 73
Juvenile Myofibromatosis 75

Characteristics:

OMIM:

57
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:

32
myofibromatosis, infantile, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 228550
MeSH 44 D018224
SNOMED-CT via HPO 69 263681008 112682009 424568000

Summaries for Myofibromatosis, Infantile, 1

UniProtKB/Swiss-Prot : 75 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 peroxisome biogenesis disorder 5a. 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). Affiliated tissues include skin, bone and spinal cord, and related phenotypes are abnormality of connective tissue and fibroma

OMIM : 57 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 : 76 Infantile myofibromatosis (also known as \"Congenital generalized fibromatosis,\" and \"Congenital... 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 12)
# Related Disease Score Top Affiliating Genes
1 infantile myofibromatosis 29.6 ACTC1 NOTCH3 PDGFRB
2 peroxisome biogenesis disorder 5a 11.5
3 myofibromatosis, infantile, 2 11.0
4 dupuytren contracture 10.9
5 peroxisome biogenesis disorder 5b 10.9
6 fibromatosis 10.1
7 myopericytoma 9.8 ACTC1 PDGFRB
8 dermatofibrosarcoma protuberans 9.7 ACTC1 PDGFRB
9 leiomyosarcoma 9.6 ACTC1 PDGFRB
10 binswanger's disease 9.5 ACTC1 NOTCH3
11 endometrial stromal sarcoma 9.5 ACTC1 PDGFRB
12 gastrointestinal stromal tumor 9.2 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Myofibromatosis, Infantile, 1:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of connective tissue 32 HP:0003549
2 fibroma 32 HP:0010614

MGI Mouse Phenotypes related to Myofibromatosis, Infantile, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.13 NOTCH3 PDGFRB ACTC1
2 normal MP:0002873 8.8 ACTC1 NOTCH3 PDGFRB

Drugs & Therapeutics for Myofibromatosis, Infantile, 1

Search Clinical Trials , 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:

41
Skin, Bone, Spinal Cord

Publications for Myofibromatosis, Infantile, 1

Articles related to Myofibromatosis, Infantile, 1:

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

Variations for Myofibromatosis, Infantile, 1

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

75
# 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 all 42)
# 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 GRCh38 Chromosome 5, 150125553: 150125553
14 PDGFRB NM_002609.3(PDGFRB): c.1699A> G (p.Lys567Glu) single nucleotide variant Pathogenic 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 GRCh38 Chromosome 5, 150135020: 150135020
26 PDGFRB NM_002609.3(PDGFRB): c.365-4G> T single nucleotide variant Benign rs139448702 GRCh37 Chromosome 5, 149514583: 149514583
27 PDGFRB NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 GRCh38 Chromosome 5, 150120094: 150120094
28 PDGFRB NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 GRCh37 Chromosome 5, 149499657: 149499657
29 PDGFRB NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 GRCh37 Chromosome 5, 149509446: 149509446
30 PDGFRB NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 GRCh38 Chromosome 5, 150129883: 150129883
31 PDGFRB NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 GRCh38 Chromosome 5, 150129945: 150129945
32 PDGFRB NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 GRCh37 Chromosome 5, 149509508: 149509508
33 PDGFRB NM_002609.3(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 GRCh38 Chromosome 5, 150135817: 150135817
34 PDGFRB NM_002609.3(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 GRCh37 Chromosome 5, 149515380: 149515380
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 GRCh37 Chromosome 5, 149505054: 149505054
38 PDGFRB NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=) single nucleotide variant Benign rs56078873 GRCh38 Chromosome 5, 150125491: 150125491
39 PDGFRB NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 GRCh37 Chromosome 5, 149509427: 149509427
40 PDGFRB NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 GRCh38 Chromosome 5, 150129864: 150129864
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

Cosmic variations for Myofibromatosis, Infantile, 1:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM584 NRAS skin,trunk,benign melanocytic nevus,congenital c.182A>G p.Q61R 1:114713908-114713908 10
2 COSM28758 GNAQ soft tissue,neck,haemangioma,congenital c.626A>C p.Q209P 9:77794572-77794572 10
3 COSM28757 GNAQ soft tissue,neck,haemangioma,congenital c.626A>T p.Q209L 9:77794572-77794572 10
4 COSM476 BRAF skin,trunk,benign melanocytic nevus,congenital c.1799T>A p.V600E 7:140753336-140753336 10

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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