RM-MT
MCID: MYG007
MIFTS: 37

Myoglobinuria, Recurrent (RM-MT)

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

Aliases & Classifications for Myoglobinuria, Recurrent

MalaCards integrated aliases for Myoglobinuria, Recurrent:

Name: Myoglobinuria, Recurrent 57 55
Myoglobinuria Recurrent 75 53
Recurrent Myoglobinuria 29 6
Recurrent Myoglobinuria Mitochondrial 74
Rm-Mt 74

Characteristics:

OMIM:

57
Inheritance:
mitochondrial


HPO:

32
myoglobinuria, recurrent:
Inheritance mitochondrial inheritance


Classifications:



External Ids:

OMIM 57 550500
MeSH 44 D009212
MedGen 42 C1838877

Summaries for Myoglobinuria, Recurrent

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99845DefinitionGenetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.EpidemiologyThe exact prevalence remains unknown.Clinical descriptionIn the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features.EtiologyMutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families.Genetic counselingThe disorder may occur sporadically, or be inherited in either a recessive or dominant manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Myoglobinuria, Recurrent, also known as myoglobinuria recurrent, is related to glycogen storage disease v 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 TP53 Regulates Metabolic Genes and Cardiac muscle contraction. Affiliated tissues include skeletal muscle, kidney and liver, and related phenotypes are ragged-red muscle fibers and recurrent myoglobinuria

UniProtKB/Swiss-Prot : 74 Recurrent myoglobinuria mitochondrial: 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.

Wikipedia : 75 Myoglobinuria is the presence of myoglobin in the urine, usually associated with rhabdomyolysis or... more...

More information from OMIM: 550500

Related Diseases for Myoglobinuria, Recurrent

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 41)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease v 32.6 PYGM CPT2
2 carnitine palmitoyltransferase ii deficiency, infantile 30.4 CPT2 ACADVL
3 phosphoglycerate kinase deficiency 30.3 PYGM PRKG1
4 acyl-coa dehydrogenase, very long-chain, deficiency of 30.0 CPT2 ACADVL
5 kearns-sayre syndrome 29.9 MT-CO1 COX5A
6 multiple acyl-coa dehydrogenase deficiency 29.9 CPT2 ACADVL
7 mitochondrial myopathy 29.9 MT-CO1 COX5A
8 mitochondrial complex iv deficiency 29.8 MT-CO1 COX5A
9 myoglobinuria 29.4 PYGM MT-CO1 CPT2 ACADVL
10 genetic recurrent myoglobinuria 12.5
11 myoglobinuria, acute recurrent, autosomal recessive 11.5
12 myopathy 10.3
13 carnitine deficiency, systemic primary 10.2 CPT2 ACADVL
14 phosphoglycerate kinase 1 deficiency 10.1
15 carnitine palmitoyltransferase i deficiency 10.1 CPT2 ACADVL
16 mitochondrial trifunctional protein deficiency 10.1
17 neuromuscular disease 10.1
18 hemolytic anemia 10.1
19 mitochondrial encephalomyopathy 10.0 MT-CO1 COX5A
20 3-hydroxyacyl-coa dehydrogenase deficiency 9.9
21 dihydrolipoamide dehydrogenase deficiency 9.9
22 muscular dystrophy, becker type 9.9
23 muscle hypertrophy 9.9
24 autosomal recessive disease 9.9
25 kidney disease 9.9
26 mitochondrial metabolism disease 9.9
27 neuropathy 9.9
28 muscular dystrophy 9.9
29 mitochondrial disorders 9.9
30 polymyositis 9.9
31 encephalopathy 9.9
32 acyl-coa dehydrogenase deficiency 9.9
33 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 9.9
34 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.9
35 acute kidney failure 9.9
36 glycogen storage disease ii 9.8 PYGM DMD
37 stormorken syndrome 9.7 DMD COX5A
38 atrial standstill 1 9.6 DMD ACADVL
39 hypoglycemia 9.6 CPT2 ACADVL
40 muscular disease 9.4 DMD CPT2 ACADVL
41 dilated cardiomyopathy 9.1 MT-CO1 DMD CPT2

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

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Myoglobinuria, Recurrent:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 ACADVL CPT2 DMD MT-CO1 PRKG1
2 homeostasis/metabolism MP:0005376 9.43 ACADVL CPT2 DMD MT-CO1 PRKG1 PYGM
3 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:

# Genetic test Affiliating Genes
1 Recurrent Myoglobinuria 29

Anatomical Context for Myoglobinuria, Recurrent

MalaCards organs/tissues related to Myoglobinuria, Recurrent:

41
Skeletal Muscle, Kidney, Liver, Testes

Publications for Myoglobinuria, Recurrent

Articles related to Myoglobinuria, Recurrent:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. 38 71
10980727 2000
2
Mitochondrial DNA deletions in inherited recurrent myoglobinuria. 38 8
1929207 1991
3
Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation. 9 38
16225172 2005
4
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. 9 38
15776096 2005
5
Phenotype modulators in myophosphorylase deficiency. 9 38
12666117 2003
6
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. 9 38
10738914 2000
7
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. 9 38
8630495 1996
8
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells. 9 38
8815169 1996
9
Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease. 9 38
8845714 1996
10
Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis. 9 38
8201482 1994
11
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria. 9 38
8223790 1993
12
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). 9 38
8316268 1993
13
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) 9 38
7679780 1993
14
[1H and 31P magnetic resonance spectroscopy study of a case of phosphoglycerate kinase deficiency]. 9 38
1591023 1992
15
McArdle Disease Misdiagnosed as Meningitis. 38
27899787 2016
16
Neuromuscular Manifestations in Mitochondrial Diseases in Children. 38
28284391 2016
17
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation. 38
26108648 2016
18
Metabolic Myoglobinuria. 38
26319173 2015
19
Carnitine palmitoyl transferase II deficiency in an adolescent presenting with rhabdomyolysis and acute renal failure. 38
24786990 2014
20
Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene. 38
23616164 2013
21
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. 38
22814679 2013
22
Metabolic neuropathies and myopathies. 38
23622366 2013
23
Disorders of fatty acid oxidation. 38
23622388 2013
24
Carnitine palmitoyl transferase deficiency--unrecognized cause of recurrent acute kidney injury. 38
23560446 2013
25
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. 38
22250184 2012
26
Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation. 38
21324494 2011
27
Necrotizing vacuolar myopathy presenting with recurrent myoglobinuria. 38
20942590 2010
28
A diagnostic algorithm for metabolic myopathies. 38
20425236 2010
29
Homozygous female Becker muscular dystrophy. 38
19396825 2009
30
Human CoQ10 deficiencies. 38
19096106 2008
31
Mitochondrial myopathies. 38
17053512 2006
32
Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. 38
16881065 2006
33
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. 38
16786513 2006
34
Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing. 38
16567715 2006
35
Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. 38
15710863 2005
36
Role of carnitine and fatty acid oxidation and its defects in infantile epilepsy. 38
12597056 2002
37
[Recurrent myoglobinuria]. 38
12013886 2002
38
Myophosphorylase deficiency (glycogenosis type V; McArdle disease). 38
11949935 2002
39
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. 38
11999976 2002
40
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. 38
11294920 2001
41
[Mitochondrial diseases with recurrent myoglobinuria]. 38
11596365 2001
42
Exercise intolerance and the mitochondrial respiratory chain. 38
10937858 1999
43
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood. 38
10222461 1999
44
Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: response to cod liver oil. 38
10025805 1999
45
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. 38
9565984 1998
46
Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia. 38
9443501 1998
47
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. 38
9305349 1997
48
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency. 38
9164788 1997
49
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. 38
9153450 1997
50
Systematic use of dystrophin testing in muscle biopsies: results in 201 cases. 38
9134386 1997

Variations for Myoglobinuria, Recurrent

ClinVar genetic disease variations for Myoglobinuria, Recurrent:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MT-CO1 m.5920G> A single nucleotide variant Pathogenic rs199476129 MT:5920-5920 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:

# Super pathways Score Top Affiliating Genes
1 11.09 MT-CO1 COX5A
2 10.89 MT-CO1 COX5A
3
Show member pathways
10.35 CPT2 ACADVL

GO Terms for Myoglobinuria, Recurrent

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.46 MT-CO1 CPT2 COX5A ACADVL
2 mitochondrial respiratory chain complex IV GO:0005751 8.96 MT-CO1 COX5A
3 mitochondrial inner membrane GO:0005743 8.92 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 proton transmembrane transport GO:1902600 9.26 MT-CO1 COX5A
2 electron transport chain GO:0022900 9.16 MT-CO1 COX5A
3 fatty acid beta-oxidation GO:0006635 8.96 CPT2 ACADVL
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.62 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 8.62 MT-CO1 COX5A

Sources for Myoglobinuria, Recurrent

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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