MCID: GNT042
MIFTS: 14

Genetic Recurrent Myoglobinuria

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Genetic Recurrent Myoglobinuria

MalaCards integrated aliases for Genetic Recurrent Myoglobinuria:

Name: Genetic Recurrent Myoglobinuria 55

Characteristics:

Orphanet epidemiological data:

55
genetic recurrent myoglobinuria
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 55 ORPHA99845
ICD10 via Orphanet 33 R82.1

Summaries for Genetic Recurrent Myoglobinuria

MalaCards based summary : Genetic Recurrent Myoglobinuria is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and mitochondrial encephalomyopathy. An important gene associated with Genetic Recurrent Myoglobinuria is MT-CO3 (Mitochondrially Encoded Cytochrome C Oxidase III), and among its related pathways/superpathways are TP53 Regulates Metabolic Genes and Cardiac muscle contraction.

Related Diseases for Genetic Recurrent Myoglobinuria

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

# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.6 MT-CO1 MT-CO3
2 mitochondrial encephalomyopathy 9.6 MT-CO1 MT-CO3
3 mitochondrial complex iv deficiency 9.5 MT-CO1 MT-CO3
4 leber hereditary optic neuropathy 9.4 MT-CO1 MT-CO3
5 leigh syndrome 9.3 MT-CO1 MT-CO3
6 myoglobinuria 9.2 LPIN1 MT-CO1 MT-CO3

Graphical network of the top 20 diseases related to Genetic Recurrent Myoglobinuria:



Diseases related to Genetic Recurrent Myoglobinuria

Symptoms & Phenotypes for Genetic Recurrent Myoglobinuria

Drugs & Therapeutics for Genetic Recurrent Myoglobinuria

Search Clinical Trials , NIH Clinical Center for Genetic Recurrent Myoglobinuria

Genetic Tests for Genetic Recurrent Myoglobinuria

Anatomical Context for Genetic Recurrent Myoglobinuria

Publications for Genetic Recurrent Myoglobinuria

Variations for Genetic Recurrent Myoglobinuria

Expression for Genetic Recurrent Myoglobinuria

Search GEO for disease gene expression data for Genetic Recurrent Myoglobinuria.

Pathways for Genetic Recurrent Myoglobinuria

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

# Super pathways Score Top Affiliating Genes
1 10.89 MT-CO1 MT-CO3
2 10.52 MT-CO1 MT-CO3

GO Terms for Genetic Recurrent Myoglobinuria

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 8.96 MT-CO1 MT-CO3
2 respiratory chain complex IV GO:0045277 8.62 MT-CO1 MT-CO3

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

# Name GO ID Score Top Affiliating Genes
1 hydrogen ion transmembrane transport GO:1902600 8.96 MT-CO1 MT-CO3
2 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.62 MT-CO1 MT-CO3

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

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 8.62 MT-CO1 MT-CO3

Sources for Genetic Recurrent Myoglobinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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