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RM-MT
MCID: MYG007
MIFTS: 31

Myoglobinuria, Recurrent (RM-MT)

Categories: Genetic diseases, Infectious diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Myoglobinuria, Recurrent

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MalaCards integrated aliases for Myoglobinuria, Recurrent:

Name: Myoglobinuria, Recurrent 57 28 53 5
Myoglobinuria Recurrent 19 75
Recurrent Myoglobinuria Mitochondrial 73
Rm-Mt 73

Characteristics:


Inheritance:

Mitochondrial 57

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Infectious diseases
Anatomical: Nephrological diseases Muscle diseases Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 550500
MeSH 43 D009212
MedGen 40 C1838877
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Summaries for Myoglobinuria, Recurrent

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UniProtKB/Swiss-Prot: 73 Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine.

MalaCards based summary: Myoglobinuria, Recurrent, also known as myoglobinuria recurrent, is related to isolated cytochrome c oxidase deficiency and carnitine palmitoyltransferase ii deficiency, infantile. An important gene associated with Myoglobinuria, Recurrent is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I), and among its related pathways/superpathways are Metabolism and Thermogenesis. Affiliated tissues include skeletal muscle, and related phenotypes are ragged-red muscle fibers and exercise-induced myoglobinuria

Wikipedia: 75 Myoglobinuria is the presence of myoglobin in the urine, which usually results from rhabdomyolysis or... more...

More information from OMIM: 550500
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Related Diseases for Myoglobinuria, Recurrent

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Diseases in the Myoglobinuria family:

Myoglobinuria, Autosomal Dominant Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Recurrent

Diseases related to Myoglobinuria, Recurrent via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 isolated cytochrome c oxidase deficiency 10.1 MT-CO1 COX5A
2 carnitine palmitoyltransferase ii deficiency, infantile 10.0 CPT2 ACADVL
3 reye syndrome 10.0 CPT2 ACADVL
4 carnitine palmitoyltransferase i deficiency 10.0 CPT2 ACADVL
5 acyl-coa dehydrogenase, short-chain, deficiency of 10.0 CPT2 ACADVL
6 glycogen storage disease v 10.0 PYGM CPT2
7 isovaleric acidemia 10.0 CPT2 ACADVL
8 glass syndrome 10.0
9 carnitine-acylcarnitine translocase deficiency 10.0 CPT2 ACADVL
10 carnitine deficiency, systemic primary 10.0 CPT2 ACADVL
11 acyl-coa dehydrogenase, medium-chain, deficiency of 10.0 CPT2 ACADVL
12 3-methylcrotonyl-coa carboxylase deficiency 10.0 CPT2 ACADVL
13 alpha-methylacetoacetic aciduria 10.0 CPT2 ACADVL
14 acyl-coa dehydrogenase, very long-chain, deficiency of 10.0 CPT2 ACADVL
15 chronic progressive external ophthalmoplegia 10.0 MT-CO1 COX5A
16 mitochondrial trifunctional protein deficiency 9.9 CPT2 ACADVL
17 propionic acidemia 9.9 CPT2 ACADVL
18 multiple acyl-coa dehydrogenase deficiency 9.9 CPT2 ACADVL
19 cylindrical spirals myopathy 9.9 PYGM DMD
20 methylmalonic acidemia 9.8 CPT2 ACADVL
21 mitochondrial complex iv deficiency, nuclear type 1 9.8 PYGM MT-CO1 COX5A
22 mitochondrial myopathy 9.8 PYGM MT-CO1 COX5A
23 myoclonic epilepsy associated with ragged-red fibers 9.8 MT-CO1 COX5A
24 glycogen storage disease ii 9.8 PYGM DMD
25 atrial standstill 1 9.8 DMD ACADVL
26 tyrosinemia, type i 9.8 DMD ACADVL
27 batten-turner congenital myopathy 9.7 PYGM DMD
28 mitochondrial encephalomyopathy 9.7 MT-CO1 COX5A
29 malignant hyperthermia 9.7 PYGM DMD CPT2
30 glycogen storage disease 9.6 PYGM DMD CPT2
31 isolated elevated serum creatine phosphokinase levels 9.4 PYGM DMD CPT2 ACADVL
32 hypertrophic cardiomyopathy 9.3 PRKG1 MT-CO1 DMD ACADVL
33 myoglobinuria 9.0 PYGM PRKG1 MT-CO1 CPT2 COX5A ACADVL
34 myopathy 8.6 PYGM PRKG1 MT-CO1 DMD CPT2 COX5A

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



Diseases related to Myoglobinuria, Recurrent
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Symptoms & Phenotypes for Myoglobinuria, Recurrent

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Human phenotypes related to Myoglobinuria, Recurrent:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ragged-red muscle fibers 30 HP:0003200
2 exercise-induced myoglobinuria 30 HP:0008305
3 recurrent myoglobinuria 30 HP:0003652

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
G U:
recurrent exertional or alcohol-induced myoglobinuria

Lab:
multiple deletions of muscle mitochondrial dna
serum lactate and pyruvate normal at rest but elevated by aerobic exercise
ragged-red limb-muscle fibers
abnormal muscle mitochondria containing paracrystalline inclusions and increased glycogen particles

Clinical features from OMIM®:

550500 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Myoglobinuria, Recurrent:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 ACADVL DMD MT-CO1 PRKG1 PYGM
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Drugs & Therapeutics for Myoglobinuria, Recurrent

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Search Clinical Trials, NIH Clinical Center for Myoglobinuria, Recurrent

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Genetic Tests for Myoglobinuria, Recurrent

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Genetic tests related to Myoglobinuria, Recurrent:

# Genetic test Affiliating Genes
1 Myoglobinuria, Recurrent 28
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Anatomical Context for Myoglobinuria, Recurrent

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Organs/tissues related to Myoglobinuria, Recurrent:

MalaCards : Skeletal Muscle
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Publications for Myoglobinuria, Recurrent

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Articles related to Myoglobinuria, Recurrent:

(show all 23)
# Title Authors PMID Year
1
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. 5
10980727 2000
2
Mitochondrial DNA deletions in inherited recurrent myoglobinuria. 57
1929207 1991
3
Energy Channelization Analysis of Rough Tools Developed by RM-MT-EDM Process during ECSM of Glass Substrates. 62
36013734 2022
4
Rehabilitation Exercises for Dysfunction of the Scapula: Exploration of Muscle Activity Using Fine-Wire EMG. 62
34279126 2021
5
Proof of the feasibility of a nanocell-based wide-range optical magnetometer. 62
32225752 2020
6
Modifying the shoulder joint position during shrugging and retraction exercises alters the activation of the medial scapular muscles. 62
26409441 2016
7
Necrotizing vacuolar myopathy presenting with recurrent myoglobinuria. 62
20942590 2010
8
Simultaneous quantitative determination of metoprolol, atorvastatin and ramipril in capsules by a validated stability-indicating RP-UPLC method. 62
21179318 2010
9
Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation. 53
16225172 2005
10
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. 53
15776096 2005
11
Phenotype modulators in myophosphorylase deficiency. 53
12666117 2003
12
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. 62
11999976 2002
13
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. 53
10738914 2000
14
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. 53
8630495 1996
15
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells. 53
8815169 1996
16
Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease. 53
8845714 1996
17
Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis. 53
8201482 1994
18
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria. 53
8223790 1993
19
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). 53
8316268 1993
20
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) 53
7679780 1993
21
[1H and 31P magnetic resonance spectroscopy study of a case of phosphoglycerate kinase deficiency]. 53
1591023 1992
22
Direct DNA sequencing from colony: analysis of multiple deletions of mitochondrial genome. 62
1832017 1991
23
Is the reaction time-movement time relationship 'essentially zero'? 62
1215111 1975
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Variations for Myoglobinuria, Recurrent

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ClinVar genetic disease variations for Myoglobinuria, Recurrent:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-CO1 m.5920G>A SNV Pathogenic
 9669 rs199476129 GRCh37: MT:5920-5920
GRCh38: MT:5920-5920
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Expression for Myoglobinuria, Recurrent

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Search GEO for disease gene expression data for Myoglobinuria, Recurrent.
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Pathways for Myoglobinuria, Recurrent

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

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 12.81 PYGM MT-CO1 CPT2 COX5A ACADVL
2
Thermogenesis 74
Show member pathways
 11.31 PRKG1 CPT2
3
TP53 Regulates Metabolic Genes 66
11.1 MT-CO1 COX5A
4
Fatty acid beta-oxidation 74
Show member pathways
 10.23 CPT2 ACADVL
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GO Terms for Myoglobinuria, Recurrent

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex IV GO:0005751 9.46 MT-CO1 COX5A
2 mitochondrial membrane GO:0031966 9.26 MT-CO1 COX5A ACADVL
3 mitochondrial inner membrane GO:0005743 9.17 MT-CO1 CPT2 COX5A ACADVL

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

# Name GO ID Score Top Affiliating Genes
1 cellular respiration GO:0045333 9.46 MT-CO1 COX5A
2 oxidative phosphorylation GO:0006119 8.96 MT-CO1 COX5A
3 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.92 MT-CO1 COX5A

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

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 8.92 MT-CO1 COX5A
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Sources for Myoglobinuria, Recurrent

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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