MCID: MYF010
MIFTS: 17

Myofibromatosis, Infantile, 2

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

Aliases & Classifications for Myofibromatosis, Infantile, 2

MalaCards integrated aliases for Myofibromatosis, Infantile, 2:

Name: Myofibromatosis, Infantile, 2 57 73
Myofibromatosis, Infantile 2 57 75
Infantile Myofibromatosis 2 29 6
Imf2 57 75
Myofibromatosis, Infantile, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
one family has been reported and no additional clinical features were provided (last curated june 2013)


HPO:

32
myofibromatosis, infantile, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615293
MeSH 44 D018224
SNOMED-CT via HPO 69 263681008
UMLS 73 C3809084

Summaries for Myofibromatosis, Infantile, 2

UniProtKB/Swiss-Prot : 75 Myofibromatosis, infantile 2: 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, 2, is also known as myofibromatosis, infantile 2. An important gene associated with Myofibromatosis, Infantile, 2 is NOTCH3 (Notch 3). Affiliated tissues include skin and bone.

OMIM : 57 Infantile myofibromatosis is a disorder of mesenchymal proliferation characterized by the development of benign tumors in the skin, muscle, bone, and viscera. Soft tissue lesions may regress spontaneously. Visceral lesions are associated with high morbidity and mortality (summary by Martignetti et al., 2013). For a discussion of genetic heterogeneity of infantile myofibromatosis, see IMF1 (228550). (615293)

Related Diseases for Myofibromatosis, Infantile, 2

Diseases in the Infantile Myofibromatosis family:

Myofibromatosis, Infantile, 1 Myofibromatosis, Infantile, 2

Symptoms & Phenotypes for Myofibromatosis, Infantile, 2

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
myofibromatosis


Clinical features from OMIM:

615293

Drugs & Therapeutics for Myofibromatosis, Infantile, 2

Search Clinical Trials , NIH Clinical Center for Myofibromatosis, Infantile, 2

Genetic Tests for Myofibromatosis, Infantile, 2

Genetic tests related to Myofibromatosis, Infantile, 2:

# Genetic test Affiliating Genes
1 Infantile Myofibromatosis 2 29 NOTCH3

Anatomical Context for Myofibromatosis, Infantile, 2

MalaCards organs/tissues related to Myofibromatosis, Infantile, 2:

41
Skin, Bone

Publications for Myofibromatosis, Infantile, 2

Variations for Myofibromatosis, Infantile, 2

UniProtKB/Swiss-Prot genetic disease variations for Myofibromatosis, Infantile, 2:

75
# Symbol AA change Variation ID SNP ID
1 NOTCH3 p.Leu1519Pro VAR_069927 rs367543285

ClinVar genetic disease variations for Myofibromatosis, Infantile, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH3 NM_000435.2(NOTCH3): c.4556T> C (p.Leu1519Pro) single nucleotide variant Pathogenic rs367543285 GRCh37 Chromosome 19, 15285059: 15285059
2 NOTCH3 NM_000435.2(NOTCH3): c.4556T> C (p.Leu1519Pro) single nucleotide variant Pathogenic rs367543285 GRCh38 Chromosome 19, 15174248: 15174248

Expression for Myofibromatosis, Infantile, 2

Search GEO for disease gene expression data for Myofibromatosis, Infantile, 2.

Pathways for Myofibromatosis, Infantile, 2

GO Terms for Myofibromatosis, Infantile, 2

Sources for Myofibromatosis, Infantile, 2

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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