MCID: MYG003
MIFTS: 22

Myoglobinuria Recurrent malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases

Aliases & Classifications for Myoglobinuria Recurrent

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Aliases & Descriptions for Myoglobinuria Recurrent:

Name: Myoglobinuria Recurrent 47 26
 
Myoglobinuria, Recurrent 49

Characteristics:

HPO:

63

Classifications:



Summaries for Myoglobinuria Recurrent

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MalaCards based summary: Myoglobinuria Recurrent, also known as myoglobinuria, recurrent, is related to chromosome 4q32.1-q32.2 triplication syndrome and trichorhinophalangeal syndrome type 1 and 3, and has symptoms including ragged-red muscle fibers, recurrent myoglobinuria and exercise-induced myoglobinuria. An important gene associated with Myoglobinuria Recurrent is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I), and among its related pathways are TP53 Regulates Metabolic Genes and Cardiac muscle contraction. Related mouse phenotypes are homeostasis/metabolism and 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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Human phenotypes related to Myoglobinuria Recurrent:

 63
id Description HPO Frequency HPO Source Accession
1 ragged-red muscle fibers63 HP:0003200
2 recurrent myoglobinuria63 HP:0003652
3 exercise-induced myoglobinuria63 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, Recurrent26

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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0ACADVL, CPT2, DMD, MT-CO1, PRKG1, PYGM
2MP:00053697.7ACADVL, DMD, MT-CO1, PRKG1, PYGM

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> ASNVPathogenicrs199476129GRCh37Chr 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 pathwaysScoreTop Affiliating Genes
19.6COX5A, MT-CO1
29.6COX5A, MT-CO1
3
Show member pathways
9.5ACADVL, CPT2
4
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:000575110.1COX5A, 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:00066359.5ACADVL, CPT2
2mitochondrial electron transport, cytochrome c to oxygenGO:00061239.3COX5A, MT-CO1

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

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:00090559.4ACADVL, COX5A

Sources for Myoglobinuria Recurrent

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet