MCID: MYG005
MIFTS: 37

Myoglobinuria

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

Aliases & Classifications for Myoglobinuria

Summaries for Myoglobinuria

Disease Ontology : 12 A myopathy that is characterized by an increased urinary excretion of myoglobin.

MalaCards based summary : Myoglobinuria is related to genetic recurrent myoglobinuria and myoglobinuria, recurrent. An important gene associated with Myoglobinuria is LPIN1 (Lipin 1), and among its related pathways/superpathways are Metabolism and Glucose metabolism. Affiliated tissues include kidney, testes and liver, and related phenotypes are cardiovascular system and homeostasis/metabolism

Wikipedia : 72 Myoglobinuria is the presence of myoglobin in the urine, usually associated with rhabdomyolysis or... more...

Related Diseases for Myoglobinuria

Diseases in the Myoglobinuria family:

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

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 genetic recurrent myoglobinuria 33.2 LPIN1 MT-CO1 MT-CO3
2 myoglobinuria, recurrent 32.9 ACADVL CPT2 MT-CO1 PYGM
3 phosphoglycerate kinase deficiency 32.1 PFKM PYGM
4 carnitine palmitoyltransferase ii deficiency, infantile 31.9 ACADVL CPT2
5 glycogen storage disease vii 31.9 PFKM PYGM
6 glycogen storage disease v 31.7 CPT2 PFKM PYGM
7 acyl-coa dehydrogenase, very long-chain, deficiency of 31.5 ACADVL CPT2
8 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 29.9 MB PIK3C2A
9 neuroleptic malignant syndrome 29.3 MB PIK3C2A
10 malignant hyperthermia 29.1 CPT2 MB PIK3C2A
11 myopathy 27.2 ACADVL CPT2 MB PFKM PGAM2 PIK3C2A
12 myoglobinuria, acute recurrent, autosomal recessive 12.5
13 myoglobinuria, autosomal dominant 12.1
14 myoglobinuria dominant form 11.9
15 phosphoglycerate mutase deficiency 11.5
16 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 11.1
17 myopathy with lactic acidosis, hereditary 11.0
18 myopathy with deficiency of iron-sulfur cluster assembly enzyme 10.9
19 fanconi-bickel syndrome 10.8
20 marinesco-sjogren syndrome 10.8
21 glycogen storage disease x 10.8
22 glycogen storage disease, type ixd 10.8
23 muscular phosphorylase kinase deficiency 10.8
24 coenurosis 10.4 LDHA MT-CO1
25 muscular dystrophy 10.0
26 subendocardial myocardial infarction 10.0 LDHA MB
27 blood group, i system 9.9
28 hemoglobinuria 9.9
29 dirofilariasis 9.9 MB MT-CO1
30 virus associated hemophagocytic syndrome 9.9 MB PIK3C2A
31 interstitial myocarditis 9.9 MB PIK3C2A
32 creatine phosphokinase, elevated serum 9.8 MB PIK3C2A
33 posterior myocardial infarction 9.8 MB PIK3C2A
34 myositis fibrosa 9.8 MB PIK3C2A
35 anuria 9.8 MB PIK3C2A
36 plexopathy 9.8 MB PIK3C2A
37 pericardial effusion 9.8 ACADVL PIK3C2A
38 compartment syndrome 9.8 MB PIK3C2A
39 intermediate coronary syndrome 9.8 MB PIK3C2A
40 mitochondrial complex iv deficiency 9.8
41 muscular dystrophy, becker type 9.8
42 muscular dystrophy, duchenne type 9.8
43 mitochondrial trifunctional protein deficiency 9.8
44 malaria 9.8
45 microvascular complications of diabetes 3 9.8
46 microvascular complications of diabetes 4 9.8
47 microvascular complications of diabetes 6 9.8
48 microvascular complications of diabetes 7 9.8
49 episodic pain syndrome, familial, 1 9.8
50 hemolytic anemia 9.8

Graphical network of the top 20 diseases related to Myoglobinuria:



Diseases related to Myoglobinuria

Symptoms & Phenotypes for Myoglobinuria

MGI Mouse Phenotypes related to Myoglobinuria:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 ACADVL CPT2 LDHA LPIN1 MB MT-CO1
2 homeostasis/metabolism MP:0005376 9.61 PIK3C2A PYGM ACADVL CPT2 LDHA LPIN1
3 muscle MP:0005369 9.1 PYGM ACADVL LPIN1 MB MT-CO1 PFKM

Drugs & Therapeutics for Myoglobinuria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Incidence of Rhabdomyolysis Among Patients Admitted With Jimsonweed Ingestions Completed NCT00592657
2 Near Infrared Spectroscopy in Patients Undergoing Robotic Assisted Laparoscopic Surgery in the Trendelenburg Position Recruiting NCT02829242

Search NIH Clinical Center for Myoglobinuria

Genetic Tests for Myoglobinuria

Genetic tests related to Myoglobinuria:

# Genetic test Affiliating Genes
1 Myoglobinuria 28

Anatomical Context for Myoglobinuria

MalaCards organs/tissues related to Myoglobinuria:

38
Kidney, Testes, Liver

Publications for Myoglobinuria

Articles related to Myoglobinuria:

(show top 50) (show all 61)
# Title Authors Year
1
Primary Myoglobinuria: Differentiate Myoglobinuria from Hemoglobinuria. ( 28811700 )
2017
2
A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria. ( 28580215 )
2017
3
Young girl presenting with exercise-induced myoglobinuria. ( 27297959 )
2016
4
Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency. ( 26883264 )
2016
5
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation. ( 26108648 )
2015
6
Metabolic Myoglobinuria. ( 26319173 )
2015
7
Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy. ( 23989969 )
2014
8
Myoglobinuria masquerading as acute rejection in a renal allograft recipient with recurrent post transplant diabetic nephropathy. ( 24826952 )
2014
9
Influence of body mass loss and myoglobinuria on the development of muscle fatigue after a marathon in a warm environment. ( 23537020 )
2013
10
Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene. ( 23616164 )
2013
11
Severe falciparum malaria with dengue coinfection complicated by rhabdomyolysis and acute kidney injury: an unusual case with myoglobinemia, myoglobinuria but normal serum creatine kinase. ( 23256803 )
2012
12
Comparing the potential renal protective activity of desferrioxamine B and the novel chelator desferrioxamine B-N-(3-hydroxyadamant-1-yl)carboxamide in a cell model of myoglobinuria. ( 21320071 )
2011
13
Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation. ( 21324494 )
2011
14
Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. ( 21220724 )
2011
15
Myoglobinuria after laparoscopic radiofrequency ablation of liver tumors. ( 20033345 )
2010
16
Necrotizing vacuolar myopathy presenting with recurrent myoglobinuria. ( 20942590 )
2010
17
Episodic myoglobinuria in a primary gamma-sarcoglycanopathy. ( 20356742 )
2010
18
Myoglobinuria caused by exertional rhabdomyolysis misdiagnosed as psychiatric illness. ( 18172418 )
2008
19
Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy. ( 17719224 )
2008
20
Statin induced myopathy. Dipstick test for myoglobinuria. ( 19050020 )
2008
21
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. ( 18817903 )
2008
22
Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. ( 16881065 )
2006
23
[Acute renal failure following convulsion-induced myoglobinuria]. ( 17052009 )
2006
24
Acute renal failure following kidney transplantation associated with myoglobinuria in patients treated with rapamycin. ( 16969287 )
2006
25
Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing. ( 16567715 )
2006
26
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. ( 15776096 )
2005
27
[Rhabdomyolysis and myoglobinuria]. ( 12799789 )
2003
28
Myoglobinuria and COX deficiency in a patient taking cerivastatin and gemfibrozil. ( 12525734 )
2003
29
Pathologic quiz case: a man with exertion-induced cramps and myoglobinuria. McArdle disease (glycogenosis type V or myophosphorylase deficiency). ( 12951997 )
2003
30
Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. ( 11369190 )
2001
31
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. ( 10980727 )
2000
32
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria. ( 10868782 )
2000
33
A case of Becker muscular dystrophy and massive myoglobinuria with minimal renal manifestations. ( 9550662 )
1998
34
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. ( 9443500 )
1998
35
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. ( 9565984 )
1998
36
Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria. ( 9040667 )
1997
37
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. ( 9305349 )
1997
38
Myoglobinuria, malignant hyperthermia, neuroleptic malignant syndrome and serotonin syndrome. ( 9227957 )
1997
39
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency. ( 9164788 )
1997
40
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells. ( 8815169 )
1996
41
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. ( 8630495 )
1996
42
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria. ( 7580240 )
1995
43
Myoglobinuria detection by capillary electrophoresis. ( 7581887 )
1995
44
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. ( 8145917 )
1994
45
Myophosphorylase deficiency: an unusually severe form with myoglobinuria. ( 8071750 )
1994
46
[Myoglobinuria due to a deficiency of carnitine palmitoyltransferase II. A clinical case report]. ( 8023007 )
1994
47
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. ( 8358442 )
1993
48
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria. ( 8223790 )
1993
49
A single amino acid substitution (157 Gly-->Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. ( 1547346 )
1992
50
Marked hypokalemic rhabdomyolysis with myoglobinuria due to diuretic treatment. ( 1756765 )
1991

Variations for Myoglobinuria

Expression for Myoglobinuria

Search GEO for disease gene expression data for Myoglobinuria.

Pathways for Myoglobinuria

GO Terms for Myoglobinuria

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.76 ACADVL LDHA LPIN1 MB PFKM PGAM2
2 mitochondrial inner membrane GO:0005743 9.26 ACADVL CPT2 MT-CO1 MT-CO3
3 respiratory chain complex IV GO:0045277 8.62 MT-CO1 MT-CO3

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.67 ACADVL PFKM PGAM2 PYGM
2 response to hydrogen peroxide GO:0042542 9.46 LDHA MB
3 fatty acid beta-oxidation GO:0006635 9.43 ACADVL CPT2
4 fatty acid metabolic process GO:0006631 9.43 ACADVL CPT2 LPIN1
5 canonical glycolysis GO:0061621 9.4 PFKM PGAM2
6 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.32 MT-CO1 MT-CO3
7 glycogen catabolic process GO:0005980 9.16 PFKM PYGM
8 fatty acid catabolic process GO:0009062 8.96 ACADVL LPIN1
9 glycolytic process GO:0006096 8.8 LDHA PFKM PGAM2

Molecular functions related to 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 Myoglobinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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