MCID: ISL053
MIFTS: 4

Isolated Asymptomatic Elevation of Creatine Phosphokinase

Categories: Rare diseases

Aliases & Classifications for Isolated Asymptomatic Elevation of Creatine Phosphokinase

MalaCards integrated aliases for Isolated Asymptomatic Elevation of Creatine Phosphokinase:

Name: Isolated Asymptomatic Elevation of Creatine Phosphokinase 58
Idiopathic Asymptomatic Hyperckemia 58
Isolated Asymptomatic Hyperckemia 58

Classifications:



External Ids:

Orphanet 58 ORPHA206599

Summaries for Isolated Asymptomatic Elevation of Creatine Phosphokinase

MalaCards based summary : Isolated Asymptomatic Elevation of Creatine Phosphokinase, is also known as idiopathic asymptomatic hyperckemia. An important gene associated with Isolated Asymptomatic Elevation of Creatine Phosphokinase is CAV3 (Caveolin 3).

Related Diseases for Isolated Asymptomatic Elevation of Creatine Phosphokinase

Symptoms & Phenotypes for Isolated Asymptomatic Elevation of Creatine Phosphokinase

Drugs & Therapeutics for Isolated Asymptomatic Elevation of Creatine Phosphokinase

Search Clinical Trials , NIH Clinical Center for Isolated Asymptomatic Elevation of Creatine Phosphokinase

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Anatomical Context for Isolated Asymptomatic Elevation of Creatine Phosphokinase

Publications for Isolated Asymptomatic Elevation of Creatine Phosphokinase

Articles related to Isolated Asymptomatic Elevation of Creatine Phosphokinase:

# Title Authors PMID Year
1
Clinical and molecular findings in a cohort of ANO5-related myopathy. 61
31353849 2019

Variations for Isolated Asymptomatic Elevation of Creatine Phosphokinase

Expression for Isolated Asymptomatic Elevation of Creatine Phosphokinase

Search GEO for disease gene expression data for Isolated Asymptomatic Elevation of Creatine Phosphokinase.

Pathways for Isolated Asymptomatic Elevation of Creatine Phosphokinase

GO Terms for Isolated Asymptomatic Elevation of Creatine Phosphokinase

Sources for Isolated Asymptomatic Elevation of Creatine Phosphokinase

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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