MCID: MYG003
MIFTS: 17

Myoglobinuria Recurrent malady

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

Aliases & Classifications for Myoglobinuria Recurrent

About this section
Sources:
42NIH Rare Diseases, 48Orphanet, 44Novoseek, 22GTR, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Myoglobinuria Recurrent:

Name: Myoglobinuria Recurrent 42
Genetic Recurrent Myoglobinuria 42 48
 
Myoglobinuria, Recurrent 44 22


Classifications:



Characteristics (Orphanet epidemiological data):

48
genetic recurrent myoglobinuria:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood


External Ids:

Orphanet48 99845
ICD10 via Orphanet26 R82.1

Summaries for Myoglobinuria Recurrent

About this section
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.

Related Diseases for Myoglobinuria Recurrent

About this section

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1leber hereditary optic neuropathy10.1MT-CO3
2mitochondrial disorders9.7MT-CO3, MT-CO1

Symptoms for Myoglobinuria Recurrent

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Myoglobinuria Recurrent

Search NIH Clinical Center for Myoglobinuria Recurrent

Genetic Tests for Myoglobinuria Recurrent

About this section

Genetic tests related to Myoglobinuria Recurrent:

id Genetic test Affiliating Genes
1 Myoglobinuria, Recurrent22

Anatomical Context for Myoglobinuria Recurrent

About this section

Animal Models for Myoglobinuria Recurrent or affiliated genes

About this section

Publications for Myoglobinuria Recurrent

About this section

Variations for Myoglobinuria Recurrent

About this section

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

About this section
Search GEO for disease gene expression data for Myoglobinuria Recurrent.

Pathways for genes affiliated with Myoglobinuria Recurrent

About this section

Compounds for genes affiliated with Myoglobinuria Recurrent

About this section
Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1cholic acid44 28 24 1112.1MT-CO3, MT-CO1
2atp44 2810.0MT-CO3, MT-CO1
3citrate448.9MT-CO1, MT-CO3
4nadh44 24 1110.7MT-CO3, MT-CO1
5glucose448.5MT-CO3, MT-CO1, LPIN1

GO Terms for genes affiliated with Myoglobinuria Recurrent

About this section

Sources for Myoglobinuria Recurrent

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet