MCID: MYG003
MIFTS: 23

Myoglobinuria Recurrent malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Metabolic diseases, Muscle diseases

Aliases & Classifications for Myoglobinuria Recurrent

Aliases & Descriptions for Myoglobinuria Recurrent:

Name: Myoglobinuria Recurrent 50 29
Myoglobinuria, Recurrent 52

Characteristics:

HPO:

32
myoglobinuria recurrent:
Inheritance mitochondrial inheritance


Classifications:



Summaries for Myoglobinuria Recurrent

MalaCards based summary : Myoglobinuria Recurrent, also known as myoglobinuria, recurrent, is related to spinal muscular atrophy-dandy-walker malformation-cataracts syndrome and encephalopathy, acute, infection-induced, 4, and has symptoms including ragged-red muscle fibers, exercise-induced myoglobinuria and recurrent myoglobinuria. An important gene associated with Myoglobinuria Recurrent is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I), and among its related pathways/superpathways are Fatty acid metabolism and TP53 Regulates Metabolic Genes. Related phenotypes are homeostasis/metabolism and muscle

Related Diseases for Myoglobinuria Recurrent

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



Diseases related to Myoglobinuria Recurrent

Symptoms & Phenotypes for Myoglobinuria Recurrent

Human phenotypes related to Myoglobinuria Recurrent:

32
id Description HPO Frequency HPO Source Accession
1 ragged-red muscle fibers 32 HP:0003200
2 exercise-induced myoglobinuria 32 HP:0008305
3 recurrent myoglobinuria 32 HP:0003652

MGI Mouse Phenotypes related to Myoglobinuria Recurrent:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 CPT2 DMD MT-CO1 PRKG1 PYGM ACADVL
2 muscle MP:0005369 9.02 ACADVL DMD MT-CO1 PRKG1 PYGM

Drugs & Therapeutics for Myoglobinuria Recurrent

Search Clinical Trials , NIH Clinical Center for Myoglobinuria Recurrent

Genetic Tests for Myoglobinuria Recurrent

Genetic tests related to Myoglobinuria Recurrent:

id Genetic test Affiliating Genes
1 Myoglobinuria, Recurrent 29

Anatomical Context for Myoglobinuria Recurrent

Publications for Myoglobinuria Recurrent

Variations for Myoglobinuria Recurrent

ClinVar genetic disease variations for Myoglobinuria Recurrent:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-CO1 m.5920G> A single nucleotide variant Pathogenic rs199476129 GRCh37 Chromosome MT, 5920: 5920

Expression for Myoglobinuria Recurrent

Search GEO for disease gene expression data for Myoglobinuria Recurrent.

Pathways for Myoglobinuria Recurrent

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.22 ACADVL CPT2
2 11.09 COX5A MT-CO1
3 10.85 COX5A MT-CO1
4
Show member pathways
10.35 ACADVL CPT2

GO Terms for Myoglobinuria Recurrent

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex IV GO:0005751 8.96 COX5A MT-CO1
2 mitochondrial inner membrane GO:0005743 8.92 ACADVL COX5A CPT2 MT-CO1

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

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.43 ACADVL PRKG1 PYGM
2 hydrogen ion transmembrane transport GO:1902600 9.16 COX5A MT-CO1
3 fatty acid beta-oxidation GO:0006635 8.96 ACADVL CPT2
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.62 COX5A MT-CO1

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

id Name GO ID Score Top Affiliating Genes
1 electron carrier activity GO:0009055 8.62 COX5A MT-CO1

Sources for Myoglobinuria Recurrent

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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