myoglobinuria

Summary
Definition
A myopathy that is characterized by an increased urinary excretion of myoglobin.
Super Class
myopathy
External Links
Disease Ontology
DOID:0080108
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
1376 CPT2 carnitine palmitoyltransferase 2
3030 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3033 HADH hydroxyacyl-CoA dehydrogenase
3939 LDHA lactate dehydrogenase A
5224 PGAM2 phosphoglycerate mutase 2
5230 PGK1 phosphoglycerate kinase 1
5837 PYGM glycogen phosphorylase, muscle associated
9663 LPIN2 lipin 2
23175 LPIN1 lipin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
56012 Pgam2 phosphoglycerate mutase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
24959 Pgam2 phosphoglycerate mutase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
853705 GPM1 phosphoglycerate mutase GPM1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 36 in total
HPO ID HPO Term
HP:0003652 Recurrent myoglobinuria
HP:0002167 Abnormality of speech or vocalization
HP:0011675 Arrhythmia
HP:0001324 Muscle weakness
HP:0007340 Lower limb muscle weakness
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0000467 Neck muscle weakness
HP:0003554 Type 2 muscle fiber atrophy
HP:0008997 Proximal muscle weakness in upper limbs
HP:0001945 Fever
Displaying 1 entry
Gene ID Gene Symbol Description
23175 LPIN1 lipin 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024