MCID: MYG003
MIFTS: 18

Myoglobinuria Recurrent malady

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

Aliases & Classifications for Myoglobinuria Recurrent

About this section

Aliases & Descriptions for Myoglobinuria Recurrent:

Name: Myoglobinuria Recurrent 45
 
Myoglobinuria, Recurrent 47 24

Characteristics:

HPO:

61


Classifications:



Summaries for Myoglobinuria Recurrent

About this section
MalaCards based summary: Myoglobinuria Recurrent, also known as myoglobinuria, recurrent, is related to 6q terminal deletion syndrome and mitochondrial complex iii deficiency, nuclear type 4, and has symptoms including exercise-induced myoglobinuria, recurrent myoglobinuria and ragged-red muscle fibers. An important gene associated with Myoglobinuria Recurrent is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I), and among its related pathways are TP53 Regulates Metabolic Genes and Cardiac muscle contraction. Related mouse phenotypes are muscle and homeostasis/metabolism.

Related Diseases for Myoglobinuria Recurrent

About this section

Graphical network of diseases related to Myoglobinuria Recurrent:



Diseases related to myoglobinuria recurrent

Symptoms for Myoglobinuria Recurrent

About this section

HPO human phenotypes related to Myoglobinuria Recurrent:

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

Drugs & Therapeutics for Myoglobinuria Recurrent

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myoglobinuria Recurrent

Genetic Tests for Myoglobinuria Recurrent

About this section

Anatomical Context for Myoglobinuria Recurrent

About this section

Animal Models for Myoglobinuria Recurrent or affiliated genes

About this section

MGI Mouse Phenotypes related to Myoglobinuria Recurrent:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.7ACADVL, DMD, MT-CO1, PRKG1, PYGM
2MP:00053767.0ACADVL, CPT2, DMD, MT-CO1, PRKG1, PYGM

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

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

idSuper pathwaysScoreTop Affiliating Genes
19.6COX5A, MT-CO1
29.6COX5A, MT-CO1
3
Show member pathways
9.5ACADVL, CPT2
4
Show member pathways
9.5ACADVL, CPT2

GO Terms for genes affiliated with Myoglobinuria Recurrent

About this section

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

idNameGO IDScoreTop Affiliating Genes
1hydrogen ion transmembrane transportGO:19026009.6COX5A, MT-CO1

Sources for Myoglobinuria Recurrent

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet