MCID: GNT042
MIFTS: 15

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 59

Characteristics:

Orphanet epidemiological data:

59
genetic recurrent myoglobinuria
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA99845
ICD10 via Orphanet 34 R82.1

Summaries for Genetic Recurrent Myoglobinuria

MalaCards based summary : Genetic Recurrent Myoglobinuria is related to epilepsy, familial temporal lobe, 2 and deafness, nonsyndromic sensorineural, mitochondrial. 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

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 9.16 MT-CO1 MT-CO3
2 mitochondrial respiratory chain complex IV GO:0005751 8.96 MT-CO1 MT-CO3
3 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 proton transmembrane transport GO:1902600 9.26 MT-CO1 MT-CO3
2 aerobic respiration GO:0009060 9.16 MT-CO1 MT-CO3
3 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.96 MT-CO1 MT-CO3
4 respiratory electron transport chain GO:0022904 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 electron transfer activity GO:0009055 8.96 MT-CO1 MT-CO3
2 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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