MCID: MYP025
MIFTS: 12

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 24
Myopathy with Exercise Intolerance, Swedish Type 24 69
Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase 24
Myoglobinuria Due to Abnormal Glycolysis 24
Hereditary Myopathy with Lactic Acidosis 24
Iron-Sulfur Cluster Deficiency Myopathy 24
Myopathy with Deficiency of Iscu 24
Hml 24

External Ids:

UMLS 69 C1850718

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

Genetics Home Reference : 24 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 An important gene associated with Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme is ISCU (Iron-Sulfur Cluster Assembly Enzyme). 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 11.5
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:

38
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

ClinVar genetic disease variations for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ISCU ISCU, IVS5, G-C, +382 single nucleotide variant Pathogenic
2 ISCU NM_213595.3(ISCU): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs267607190 GRCh37 Chromosome 12, 108958089: 108958089
3 ISCU NM_213595.3(ISCU): c.418+382G> C single nucleotide variant Pathogenic rs767000507 GRCh37 Chromosome 12, 108961426: 108961426

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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