MCID: MYG003
MIFTS: 10

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 46 25
 
Myoglobinuria, Recurrent 48

Characteristics:

HPO:

62


Classifications:



Summaries for Myoglobinuria Recurrent

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MalaCards based summary: Myoglobinuria Recurrent, also known as myoglobinuria, recurrent, is related to myoglobinuria, 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).

Related Diseases for Myoglobinuria Recurrent

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Diseases in the Myoglobinuria family:

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

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

idRelated DiseaseScoreTop Affiliating Genes
1myoglobinuria10.1

Symptoms for Myoglobinuria Recurrent

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HPO human phenotypes related to Myoglobinuria Recurrent:

id Description Frequency HPO Source Accession
1 ragged-red muscle fibers HP:0003200
2 recurrent myoglobinuria HP:0003652
3 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, Recurrent25

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:

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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GO Terms for genes affiliated with Myoglobinuria Recurrent

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Sources for Myoglobinuria Recurrent

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet