RM-MT
MCID: MYG007
MIFTS: 39

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 76 53
Recurrent Myoglobinuria 29 6
Recurrent Myoglobinuria Mitochondrial 75
Rm-Mt 75

Characteristics:

OMIM:

57
Inheritance:
mitochondrial


HPO:

32
myoglobinuria, recurrent:
Inheritance mitochondrial inheritance


Classifications:



External Ids:

OMIM 57 550500
MedGen 42 C1838877
MeSH 44 D009212

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: 99845Disease definitionGenetic 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 phosphoglycerate kinase deficiency. An important gene associated with Myoglobinuria, Recurrent is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I), and among its related pathways/superpathways are Fatty acid metabolism and TP53 Regulates Metabolic Genes. Affiliated tissues include skeletal muscle, kidney and bone, and related phenotypes are ragged-red muscle fibers and exercise-induced myoglobinuria

UniProtKB/Swiss-Prot : 75 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 : 76 Myoglobinuria is the presence of myoglobin in the urine, usually associated with rhabdomyolysis or... more...

Description from OMIM: 550500

Related Diseases for Myoglobinuria, Recurrent

Diseases in the Myoglobinuria family:

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

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease v 31.7 CPT2 PYGM
2 phosphoglycerate kinase deficiency 30.1 PRKG1 PYGM
3 carnitine palmitoyltransferase ii deficiency, infantile 30.1 ACADVL CPT2
4 myoglobinuria 29.8 ACADVL CPT2 MT-CO1 PYGM
5 genetic recurrent myoglobinuria 12.2
6 myoglobinuria, acute recurrent, autosomal recessive 11.3
7 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 11.1
8 acquired idiopathic sideroblastic anemia 10.1 COX5A MT-CO1
9 carnitine deficiency, systemic primary 10.1 ACADVL CPT2
10 acyl-coa dehydrogenase, very long-chain, deficiency of 10.0 ACADVL CPT2
11 carnitine palmitoyltransferase i deficiency 10.0 ACADVL CPT2
12 multiple acyl-coa dehydrogenase deficiency 10.0 ACADVL CPT2
13 kearns-sayre syndrome 10.0 COX5A MT-CO1
14 mitochondrial complex iv deficiency 10.0 COX5A MT-CO1
15 mitochondrial encephalomyopathy 10.0 COX5A MT-CO1
16 mitochondrial myopathy 10.0 COX5A MT-CO1
17 glycogen storage disease ii 9.9 DMD PYGM
18 malignant hyperthermia 9.9 CPT2 DMD
19 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.9 ACADVL CPT2 PYGM
20 stormorken syndrome 9.9 COX5A DMD
21 atrial standstill 1 9.8 ACADVL DMD
22 3-hydroxyacyl-coa dehydrogenase deficiency 9.8
23 mitochondrial trifunctional protein deficiency 9.8
24 myopathy 9.8
25 neuropathy 9.8
26 muscular dystrophy 9.8
27 encephalopathy 9.8
28 hypoglycemia 9.8 ACADVL CPT2
29 muscular disease 9.8 ACADVL CPT2 DMD
30 dilated cardiomyopathy 9.7 CPT2 DMD MT-CO1

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



Diseases related to Myoglobinuria, Recurrent

Symptoms & Phenotypes for Myoglobinuria, Recurrent

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

Human phenotypes related to Myoglobinuria, Recurrent:

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

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, Bone

Publications for Myoglobinuria, Recurrent

Articles related to Myoglobinuria, Recurrent:

(show all 28)
# Title Authors Year
1
Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene. ( 23616164 )
2013
2
Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation. ( 21324494 )
2011
3
Necrotizing vacuolar myopathy presenting with recurrent myoglobinuria. ( 20942590 )
2010
4
Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing. ( 16567715 )
2006
5
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. ( 15776096 )
2005
6
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. ( 10980727 )
2000
7
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood. ( 10222461 )
1999
8
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. ( 9565984 )
1998
9
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. ( 9305349 )
1997
10
Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria. ( 9040667 )
1997
11
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency. ( 9164788 )
1997
12
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. ( 8630495 )
1996
13
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells. ( 8815169 )
1996
14
Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. ( 8326329 )
1993
15
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. ( 8358442 )
1993
16
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. ( 1835339 )
1991
17
Mitochondrial DNA deletions in inherited recurrent myoglobinuria. ( 1929207 )
1991
18
Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. ( 2019931 )
1991
19
Carnitine palmitoyltransferase deficiency: a common cause of recurrent myoglobinuria. ( 2228562 )
1990
20
Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. ( 2715616 )
1989
21
Recurrent myoglobinuria and HIV seropositivity: incidental or pathogenic association? ( 2608081 )
1989
22
Exercise-induced recurrent myoglobinuria: defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients. ( 3601082 )
1987
23
Idiopathic recurrent myoglobinuria and persistent weakness. ( 6685833 )
1983
24
Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. ( 6830158 )
1983
25
Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. ( 7348995 )
1981
26
Chronic tubulointerstitial nephritis caused by recurrent myoglobinuria. ( 7396619 )
1980
27
Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency. ( 646243 )
1978
28
Recurrent myoglobinuria and muscle carnitine palmityltransferase deficiency. ( 874682 )
1977

Variations for Myoglobinuria, Recurrent

ClinVar genetic disease variations for Myoglobinuria, Recurrent:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-CO1 m.5920G> A single nucleotide variant Pathogenic rs199476129 GRCh37 Chromosome MT, 5920: 5920
2 MT-CO1 m.5920G> A single nucleotide variant Pathogenic rs199476129 GRCh38 Chromosome 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
Show member pathways
11.22 ACADVL CPT2
2 11.09 COX5A MT-CO1
3 10.85 COX5A MT-CO1
4
Show member pathways
10.35 ACADVL CPT2

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 ACADVL COX5A CPT2 MT-CO1
2 mitochondrial respiratory chain complex IV GO:0005751 8.96 COX5A MT-CO1
3 mitochondrial inner membrane GO:0005743 8.92 ACADVL COX5A CPT2 MT-CO1

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 COX5A MT-CO1
2 electron transport chain GO:0022900 9.16 COX5A MT-CO1
3 fatty acid beta-oxidation GO:0006635 8.96 ACADVL CPT2
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.62 COX5A MT-CO1

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 COX5A MT-CO1

Sources for Myoglobinuria, Recurrent

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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