MCID: MYG003
MIFTS: 23

Myoglobinuria Recurrent malady

Summaries for Myoglobinuria Recurrent

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33MalaCards
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MalaCards: Myoglobinuria Recurrent, also known as myoglobinuria, recurrent, is related to glycogen storage disease v and sudden infant death syndrome. An important gene associated with Myoglobinuria Recurrent is PYGM (phosphorylase, glycogen, muscle), and among its related pathways is Fatty Acid Beta Oxidation. The compounds phosphocreatine and acyl-coa have been mentioned in the context of this disorder. Related mouse phenotype adipose tissue.

Aliases & Classifications for Myoglobinuria Recurrent

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43NIH Rare Diseases, 22GTR, 45Novoseek
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Aliases & Descriptions:

myoglobinuria recurrent 43 22
myoglobinuria, recurrent 45


Related Diseases for Myoglobinuria Recurrent

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Myoglobinuria Recurrent:



Diseases related to myoglobinuria recurrent

Clinical Features for Myoglobinuria Recurrent

Drugs & Therapeutics for Myoglobinuria Recurrent

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Myoglobinuria Recurrent

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22GTR
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Genetic tests related to Myoglobinuria Recurrent:

id Genetic test Affiliating Genes
1 Myoglobinuria, Recurrent22

Anatomical Context for Myoglobinuria Recurrent

Animal Models for Myoglobinuria Recurrent or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Myoglobinuria Recurrent:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9ACADVL, PRKG1, DMD

Publications for Myoglobinuria Recurrent

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51PubMed
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Articles related to Myoglobinuria Recurrent:

(show all 17)
idTitleAuthorsYear
1
Necrotizing vacuolar myopathy presenting with recurrent myoglobinuria. (20942590)
2010
2
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. (18817903)
2008
3
Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing. (16567715)
2006
4
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. (15776096)
2005
5
Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. (11369190)
2001
6
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. (10980727)
2000
7
Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria. (9040667)
1997
8
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. (9305349)
1997
9
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. (8630495)
1996
10
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells. (8815169)
1996
11
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria. (7580240)
1995
12
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. (8358442)
1993
13
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. (1835339)
1991
14
Carnitine palmitoyltransferase deficiency: a common cause of recurrent myoglobinuria. (2228562)
1990
15
Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. (2715616)
1989
16
Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. (6830158)
1983
17
Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. (7348995)
1981

Genetic Variations for Myoglobinuria Recurrent

Expression for genes affiliated with Myoglobinuria Recurrent

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myoglobinuria Recurrent

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Pathways for genes affiliated with Myoglobinuria Recurrent

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38NCBI BioSystems Database, 30KEGG
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Pathways related to Myoglobinuria Recurrent according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.5CPT2, ACADVL

Compounds for genes affiliated with Myoglobinuria Recurrent

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
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Compounds related to Myoglobinuria Recurrent according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1phosphocreatine45 2410.4PYGM, COX5A
2acyl-coa459.4CPT2, ACADVL
3succinate459.1DMD, COX5A
4linoleic acid45 29 2411.1CPT2, COX5A
5glycerol45 11 2411.0DMD, PRKG1, CPT2
6glucose 6-phosphate45 2410.0PRKG1, PYGM, COX5A
7(2E)-Hexadecenoyl-CoA248.9ACADVL, COX5A
8fatty acid458.8COX5A, ACADVL, CPT2
9sucrose45 11 2410.7PRKG1, DMD, COX5A
10glycogen45 249.7PYGM, DMD, PRKG1, CPT2
11hydrogen45 249.7PYGM, DMD, PRKG1, CPT2
12pyruvate458.5CPT2, PRKG1, PYGM, COX5A
13lactate458.5COX5A, PYGM, PRKG1, CPT2
14tyrosine458.4PYGM, DMD, PRKG1, CPT2
15glucose458.2CPT2, ACADVL, PRKG1, DMD, PYGM
16carnitine458.1CPT2, ACADVL, PRKG1, PYGM, COX5A
17serine458.1CPT2, PRKG1, DMD, COX5A
18creatinine458.0COX5A, PYGM, DMD, ACADVL, CPT2
19atp45 298.9COX5A, PYGM, DMD, PRKG1, CPT2
20lipid457.8CPT2, ACADVL, PRKG1, DMD, COX5A

GO Terms for genes affiliated with Myoglobinuria Recurrent

Sources:
16Gene Ontology
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Cellular components related to Myoglobinuria Recurrent according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.7CPT2, ACADVL, COX5A

Biological processes related to Myoglobinuria Recurrent according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:0066359.2CPT2, ACADVL
2small molecule metabolic processGO:0442818.3CPT2, ACADVL, PYGM, COX5A

Products for genes affiliated with Myoglobinuria Recurrent

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Sources for Myoglobinuria Recurrent

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet