MCID: MYP025
MIFTS: 10

Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

Aliases & Classifications for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

MalaCards integrated aliases for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme:

Name: Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme 25
Myopathy with Exercise Intolerance, Swedish Type 25 73
Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase 25
Myoglobinuria Due to Abnormal Glycolysis 25
Hereditary Myopathy with Lactic Acidosis 25
Iron-Sulfur Cluster Deficiency Myopathy 25
Myopathy with Deficiency of Iscu 25
Hml 25

External Ids:

UMLS 73 C1850718

Summaries for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

Genetics Home Reference : 25 Myopathy with deficiency of iron-sulfur cluster assembly enzyme is an inherited disorder that primarily affects muscles used for movement (skeletal muscles). This condition does not usually affect other types of muscle, such as the heart (cardiac) muscle.

MalaCards based summary : Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme, also known as myopathy with exercise intolerance, swedish type, is related to myopathy with deficiency of iscu and myopathy with lactic acidosis, hereditary, and has symptoms including muscle cramp Affiliated tissues include skeletal muscle and heart.

Related Diseases for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

Diseases related to Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy with deficiency of iscu 12.4
2 myopathy with lactic acidosis, hereditary 11.1
3 myopathy 10.0

Symptoms & Phenotypes for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

UMLS symptoms related to Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme:


muscle cramp

Drugs & Therapeutics for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

Search Clinical Trials , NIH Clinical Center for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

Genetic Tests for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

Anatomical Context for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

MalaCards organs/tissues related to Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme:

41
Skeletal Muscle, Heart

Publications for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

Articles related to Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme:

# Title Authors Year
1
Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis. ( 22155317 )
2012

Variations for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

Expression for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

Search GEO for disease gene expression data for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme.

Pathways for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

GO Terms for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

Sources for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme

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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