MCID: CRD048
MIFTS: 9

Cardiomyopathy with or Without Skeletal Myopathy malady

Categories: Genetic diseases, Bone diseases, Cardiovascular diseases

Aliases & Classifications for Cardiomyopathy with or Without Skeletal Myopathy

Aliases & Descriptions for Cardiomyopathy with or Without Skeletal Myopathy:

Name: Cardiomyopathy with or Without Skeletal Myopathy 24

Classifications:



Summaries for Cardiomyopathy with or Without Skeletal Myopathy

MalaCards based summary : Cardiomyopathy with or Without Skeletal Myopathy An important gene associated with Cardiomyopathy with or Without Skeletal Myopathy is MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)). The drugs carnitine and Lisinopril have been mentioned in the context of this disorder.

Related Diseases for Cardiomyopathy with or Without Skeletal Myopathy

Symptoms & Phenotypes for Cardiomyopathy with or Without Skeletal Myopathy

Drugs & Therapeutics for Cardiomyopathy with or Without Skeletal Myopathy

Drugs for Cardiomyopathy with or Without Skeletal Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 carnitine Nutraceutical Phase 4
2
Lisinopril Approved, Investigational 83915-83-7 5362119
3
Losartan Approved 114798-26-4 3961
4
Spironolactone Approved 1952-01-7, 52-01-7 5833
5
Eplerenone Approved 107724-20-9 150310 443872
6
Angiotensin II 68521-88-0, 11128-99-7 65143 172198
7 diuretics
8
protease inhibitors
9 Natriuretic Agents
10 HIV Protease Inhibitors
11 Hormone Antagonists
12 Hormones
13 Diuretics, Potassium Sparing
14 Hormones, Hormone Substitutes, and Hormone Antagonists
15 Angiotensin II Type 1 Receptor Blockers
16 Angiotensin Receptor Antagonists
17 Angiotensin-Converting Enzyme Inhibitors
18 Angiotensinogen
19 Anti-Arrhythmia Agents
20 Protective Agents
21 Antihypertensive Agents
22 Mineralocorticoid Receptor Antagonists
23 Mineralocorticoids

Interventional clinical trials:


id Name Status NCT ID Phase
1 Identification of Carnitine-Responsive Cardiomyopathy Unknown status NCT01904396 Phase 4
2 Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
3 Heart and Skeletal Muscle Problems in Neuroacanthocytosis Completed NCT00007228
4 Eplerenone for Subclinical Cardiomyopathy in Duchenne Muscular Dystrophy Completed NCT01521546
5 Study of Muscle Abnormalities in Patients With Specific Genetic Mutations Completed NCT00001871
6 Cardiomyopathy in DMD: Lisinopril vs. Losartan Completed NCT01982695
7 Natural History of Cardiac and Respiration Function in Patients With Muscular Dystrophies on Home Mechanical Ventilation Active, not recruiting NCT02501083
8 3D Echocardiography Managing Infantile Pompe's Disease Terminated NCT00277979

Search NIH Clinical Center for Cardiomyopathy with or Without Skeletal Myopathy

Genetic Tests for Cardiomyopathy with or Without Skeletal Myopathy

Genetic tests related to Cardiomyopathy with or Without Skeletal Myopathy:

id Genetic test Affiliating Genes
1 Cardiomyopathy with or Without Skeletal Myopathy 24 MT-TL1

Anatomical Context for Cardiomyopathy with or Without Skeletal Myopathy

Publications for Cardiomyopathy with or Without Skeletal Myopathy

Variations for Cardiomyopathy with or Without Skeletal Myopathy

ClinVar genetic disease variations for Cardiomyopathy with or Without Skeletal Myopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-TL1 m.3303C> T single nucleotide variant Pathogenic rs199474660 GRCh37 Chromosome MT, 3303: 3303
2 MT-TL1 m.3260A> G single nucleotide variant Pathogenic rs199474663 GRCh37 Chromosome MT, 3260: 3260

Expression for Cardiomyopathy with or Without Skeletal Myopathy

Search GEO for disease gene expression data for Cardiomyopathy with or Without Skeletal Myopathy.

Pathways for Cardiomyopathy with or Without Skeletal Myopathy

GO Terms for Cardiomyopathy with or Without Skeletal Myopathy

Sources for Cardiomyopathy with or Without Skeletal Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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