MCID: EXT061
MIFTS: 16

Extracardiac Rhabdomyoma

Categories: Rare diseases

Aliases & Classifications for Extracardiac Rhabdomyoma

MalaCards integrated aliases for Extracardiac Rhabdomyoma:

Name: Extracardiac Rhabdomyoma 54 74

Classifications:



External Ids:

UMLS 74 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 Rhabdomyoma of the Larynx. ( 30922112 )
2019
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
Adult parapharyngeal extracardiac rhabdomyoma. ( 3220784 )
1988
6
Extracardiac rhabdomyoma: An immunocytochemical study and review of the literature. ( 3042002 )
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 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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