MCID: EXT061
MIFTS: 18

Extracardiac Rhabdomyoma

Categories: Rare diseases

Aliases & Classifications for Extracardiac Rhabdomyoma

MalaCards integrated aliases for Extracardiac Rhabdomyoma:

Name: Extracardiac Rhabdomyoma 53 73

Classifications:



External Ids:

UMLS 73 C1707985

Summaries for Extracardiac Rhabdomyoma

MalaCards based summary : Extracardiac Rhabdomyoma is related to cytoplasmic body myopathy and cardioneuromyopathy with hyaline masses and nemaline rods. An important gene associated with Extracardiac Rhabdomyoma is DES (Desmin), and among its related pathways/superpathways are Cardiac conduction and Arrhythmogenic right ventricular cardiomyopathy (ARVC).

Related Diseases for Extracardiac Rhabdomyoma

Graphical network of the top 20 diseases related to Extracardiac Rhabdomyoma:



Diseases related to Extracardiac Rhabdomyoma

Symptoms & Phenotypes for Extracardiac Rhabdomyoma

Drugs & Therapeutics for Extracardiac Rhabdomyoma

Search Clinical Trials , NIH Clinical Center for Extracardiac Rhabdomyoma

Genetic Tests for Extracardiac Rhabdomyoma

Anatomical Context for Extracardiac Rhabdomyoma

Publications for Extracardiac Rhabdomyoma

Articles related to Extracardiac Rhabdomyoma:

(show all 13)
# Title Authors Year
1
Extracardiac rhabdomyomas--presentation of two cases with analysis of AKT/mTOR and ERK1/2 signaling. ( 26247533 )
2015
2
Adult extracardiac rhabdomyoma of the parapharyngeal space. ( 22996720 )
2012
3
Adult extracardiac rhabdomyoma: light and immunohistochemical studies of two cases in the parapharyngeal space. ( 16419079 )
2006
4
Adult multifocal extracardiac rhabdomyoma. ( 8441190 )
1993
5
Extracardiac rhabdomyoma: An immunocytochemical study and review of the literature. ( 3042002 )
1988
6
Adult parapharyngeal extracardiac rhabdomyoma. ( 3220784 )
1988
7
Extracardiac rhabdomyoma: a report of two cases. ( 3762178 )
1986
8
Extracardiac rhabdomyoma: report of different types with light microscopic and ultrastructural studies. ( 7059927 )
1982
9
Extracardiac rhabdomyoma: a clinicopathologic study and review of the literature. ( 7397640 )
1980
10
Extracardiac rhabdomyoma: a rare entity. ( 644364 )
1978
11
Extracardiac rhabdomyoma. Light and electron microscopic studies of two cases in the mandibular area, with a review of previous reports. ( 4375402 )
1974
12
Extracardiac rhabdomyoma. ( 5068753 )
1972
13
Extracardiac rhabdomyoma. ( 5028052 )
1972

Variations for Extracardiac Rhabdomyoma

Expression for Extracardiac Rhabdomyoma

Search GEO for disease gene expression data for Extracardiac Rhabdomyoma.

Pathways for Extracardiac Rhabdomyoma

GO Terms for Extracardiac Rhabdomyoma

Cellular components related to Extracardiac Rhabdomyoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.96 DES DMD
2 sarcolemma GO:0042383 8.62 DES DMD

Biological processes related to Extracardiac Rhabdomyoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 8.96 DES DMD
2 muscle filament sliding GO:0030049 8.62 DES DMD

Molecular functions related to Extracardiac Rhabdomyoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.62 DES DMD

Sources for Extracardiac Rhabdomyoma

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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