MCID: MYG003
MIFTS: 20

Myoglobinuria Recurrent malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Myoglobinuria Recurrent

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Sources:
45NIH Rare Diseases, 47Novoseek, 24GTR
See all sources

Aliases & Descriptions for Myoglobinuria Recurrent:

Name: Myoglobinuria Recurrent 45
 
Myoglobinuria, Recurrent 47 24


Classifications:



Summaries for Myoglobinuria Recurrent

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MalaCards based summary: Myoglobinuria Recurrent, also known as myoglobinuria, recurrent, is related to deafness - encephaloneuropathy - obesity - valvulopathy and carnitine deficiency, systemic primary, and has symptoms including mitochondrial inheritance, ragged-red muscle fibers and recurrent myoglobinuria. An important gene associated with Myoglobinuria Recurrent is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I), and among its related pathways are Cardiac muscle contraction and Fatty acid metabolism. Related mouse phenotype muscle.

Related Diseases for Myoglobinuria Recurrent

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Graphical network of diseases related to Myoglobinuria Recurrent:



Diseases related to myoglobinuria recurrent

Symptoms for Myoglobinuria Recurrent

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HPO human phenotypes related to Myoglobinuria Recurrent:

id Description Frequency HPO Source Accession
1 mitochondrial inheritance HP:0001427
2 ragged-red muscle fibers HP:0003200
3 recurrent myoglobinuria HP:0003652
4 exercise-induced myoglobinuria HP:0008305

Drugs & Therapeutics for Myoglobinuria Recurrent

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myoglobinuria Recurrent

Genetic Tests for Myoglobinuria Recurrent

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Genetic tests related to Myoglobinuria Recurrent:

id Genetic test Affiliating Genes
1 Myoglobinuria, Recurrent24

Anatomical Context for Myoglobinuria Recurrent

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Animal Models for Myoglobinuria Recurrent or affiliated genes

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MGI Mouse Phenotypes related to Myoglobinuria Recurrent:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1ACADVL, DMD, MT-CO1, PRKG1

Publications for Myoglobinuria Recurrent

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Variations for Myoglobinuria Recurrent

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Clinvar genetic disease variations for Myoglobinuria Recurrent:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MT-CO1m.5920G> Asingle nucleotide variantPathogenicrs199476129GRCh37Chr MT, 5920: 5920

Expression for genes affiliated with Myoglobinuria Recurrent

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Search GEO for disease gene expression data for Myoglobinuria Recurrent.

Pathways for genes affiliated with Myoglobinuria Recurrent

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Pathways related to Myoglobinuria Recurrent according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6COX5A, MT-CO1
2
Show member pathways
9.5ACADVL, CPT2
3
Show member pathways
9.5ACADVL, CPT2

GO Terms for genes affiliated with Myoglobinuria Recurrent

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Cellular components related to Myoglobinuria Recurrent according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IVGO:000575110.0COX5A, MT-CO1
2mitochondrial inner membraneGO:00057438.7ACADVL, COX5A, CPT2, MT-CO1
3mitochondrionGO:00057398.6ACADVL, COX5A, CPT2, MT-CO1

Biological processes related to Myoglobinuria Recurrent according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:000663510.0ACADVL, CPT2
2hydrogen ion transmembrane transportGO:190260010.0COX5A, MT-CO1
3respiratory electron transport chainGO:00229049.9COX5A, MT-CO1
4small molecule metabolic processGO:00442818.2ACADVL, COX5A, CPT2, MT-CO1, PYGM

Molecular functions related to Myoglobinuria Recurrent according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytochrome-c oxidase activityGO:00041299.7COX5A, MT-CO1
2electron carrier activityGO:00090559.1ACADVL, COX5A, MT-CO1

Sources for Myoglobinuria Recurrent

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet