MCID: MYG003
MIFTS: 19

Myoglobinuria Recurrent malady

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

Summaries for Myoglobinuria Recurrent

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MalaCards based summary: Myoglobinuria Recurrent, also known as genetic recurrent myoglobinuria, is related to leber hereditary optic neuropathy and mitochondrial disorders, and has symptoms including mitochondrial inheritance, ragged-red muscle fibers 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Alzheimer's disease. The compounds cholic acid and atp have been mentioned in the context of this disorder.

Aliases & Classifications for Myoglobinuria Recurrent

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Sources:
43NIH Rare Diseases, 49Orphanet, 45Novoseek, 24GTR, 28ICD10 via Orphanet
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Myoglobinuria Recurrent, Aliases & Descriptions:

Name: Myoglobinuria Recurrent 43
Genetic Recurrent Myoglobinuria 43 49
 
Myoglobinuria, Recurrent 45 24


Classifications:



Characteristics (Orphanet epidemiological data):

49
genetic recurrent myoglobinuria:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood


External Ids:

Orphanet49 99845
ICD10 via Orphanet28 R82.1

Related Diseases for Myoglobinuria Recurrent

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Diseases in the Myoglobinuria Recurrent family:

Myoglobinuria, Acute Recurrent, Autosomal Recessive Myoglobinuria Dominant Form
Autosomal Dominant Myoglobinuria

Diseases related to Myoglobinuria Recurrent via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1leber hereditary optic neuropathy10.0MT-CO3
2mitochondrial disorders10.0MT-CO3, MT-CO1

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 exercise-induced myoglobinuria HP:0008305

Drugs & Therapeutics for Myoglobinuria Recurrent

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Drug clinical trials:

Search ClinicalTrials for Myoglobinuria Recurrent

Search 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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Publications for Myoglobinuria Recurrent

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Variations for Myoglobinuria Recurrent

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Clinvar genetic disease variations for Myoglobinuria Recurrent:

7
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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Compounds for genes affiliated with Myoglobinuria Recurrent

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Sources:
45Novoseek, 30IUPHAR, 26HMDB, 13DrugBank
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Compounds related to Myoglobinuria Recurrent according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cholic acid45 30 26 1312.1MT-CO3, MT-CO1
2atp45 3010.0MT-CO3, MT-CO1
3citrate458.9MT-CO1, MT-CO3
4nadh45 26 1310.7MT-CO3, MT-CO1
5glucose458.5MT-CO3, MT-CO1, LPIN1

GO Terms for genes affiliated with Myoglobinuria Recurrent

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Products for genes affiliated with Myoglobinuria Recurrent

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myoglobinuria Recurrent

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet