MCID: GNT042
MIFTS: 15

Genetic Recurrent Myoglobinuria

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Genetic Recurrent Myoglobinuria

MalaCards integrated aliases for Genetic Recurrent Myoglobinuria:

Name: Genetic Recurrent Myoglobinuria 60

Characteristics:

Orphanet epidemiological data:

60
genetic recurrent myoglobinuria
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood;

Classifications:



External Ids:

ICD10 via Orphanet 35 R82.1
Orphanet 60 ORPHA99845

Summaries for Genetic Recurrent Myoglobinuria

MalaCards based summary : Genetic Recurrent Myoglobinuria is related to epilepsy, familial temporal lobe, 2 and leber optic atrophy. An important gene associated with Genetic Recurrent Myoglobinuria is LPIN1 (Lipin 1), 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 9.16 MT-CO1 MT-CO3
2 aerobic respiration GO:0009060 8.96 MT-CO1 MT-CO3
3 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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