MCID: MYG007
MIFTS: 38

Myoglobinuria, Recurrent

Categories: Rare diseases, Neuronal diseases, Metabolic diseases, Genetic diseases, Muscle 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 myoglobinuria. 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include skeletal muscle and kidney, and related phenotypes are ragged-red muscle fibers and recurrent 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 27)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease v 31.7 CPT2 PYGM
2 myoglobinuria 29.0 ACADVL CPT2 MT-CO1 PYGM
3 genetic recurrent myoglobinuria 12.1
4 myoglobinuria, acute recurrent, autosomal recessive 11.7
5 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 10.9
6 sideroblastic anemia acquired 10.5 MT-CO1 MT-CO2
7 acquired idiopathic sideroblastic anemia 10.3 COX5A MT-CO1
8 familial colorectal cancer 10.2 MT-CO1 MT-CO2
9 parasitic protozoa infectious disease 10.2 MT-CO1 MT-CO2
10 carnitine deficiency, systemic primary 10.2 ACADVL CPT2
11 carnitine palmitoyltransferase ii deficiency, infantile 10.1 ACADVL CPT2
12 deafness, nonsyndromic sensorineural, mitochondrial 10.1 MT-CO1 MT-CO2 MT-ND2
13 leber optic atrophy 10.1 MT-CO1 MT-CO2 MT-ND2
14 mitochondrial encephalomyopathy 10.1 MT-CO1 MT-CO2 MT-ND2
15 acyl-coa dehydrogenase, very long-chain, deficiency of 10.0 ACADVL CPT2
16 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.0 MT-CO1 MT-CO2
17 phosphoglycerate kinase deficiency 10.0 PRKG1 PYGM
18 kearns-sayre syndrome 9.9 COX5A MT-CO1 MT-CO2
19 mitochondrial complex iv deficiency 9.9 COX5A MT-CO1 MT-CO2
20 glycogen storage disease ii 9.7 DMD PYGM
21 stormorken syndrome 9.6 COX5A DMD
22 mitochondrial myopathy 9.5 COX5A MT-CO1 MT-CO2 MT-ND2
23 leigh syndrome 9.4 COX5A MT-CO1 MT-CO2 MT-ND2
24 hypertrophic cardiomyopathy 9.1 ACADVL DMD MT-CO1
25 malignant hyperthermia 9.1 CPT2 DMD
26 alzheimer disease 9.1 COX5A MT-CO1 MT-CO2 MT-ND2
27 myopathy 7.9 ACADVL CPT2 DMD MT-CO1 MT-CO2 PYGM

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
GU:
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 recurrent myoglobinuria 32 HP:0003652
3 exercise-induced myoglobinuria 32 HP:0008305

MGI Mouse Phenotypes related to Myoglobinuria, Recurrent:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 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

Publications for Myoglobinuria, Recurrent

Articles related to Myoglobinuria, Recurrent:

(show all 21)
# 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
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. ( 9565984 )
1998
8
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. ( 9305349 )
1997
9
Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria. ( 9040667 )
1997
10
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency. ( 9164788 )
1997
11
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. ( 8630495 )
1996
12
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells. ( 8815169 )
1996
13
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. ( 8358442 )
1993
14
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. ( 1835339 )
1991
15
Carnitine palmitoyltransferase deficiency: a common cause of recurrent myoglobinuria. ( 2228562 )
1990
16
Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. ( 2715616 )
1989
17
Exercise-induced recurrent myoglobinuria: defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients. ( 3601082 )
1987
18
Idiopathic recurrent myoglobinuria and persistent weakness. ( 6685833 )
1983
19
Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. ( 6830158 )
1983
20
Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. ( 7348995 )
1981
21
Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency. ( 646243 )
1978

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

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 9.72 ACADVL COX5A CPT2 MT-CO1 MT-CO2
2 respiratory chain GO:0070469 9.33 MT-CO1 MT-CO2 MT-ND2
3 respiratory chain complex IV GO:0045277 9.26 MT-CO1 MT-CO2
4 mitochondrial respiratory chain complex IV GO:0005751 9.13 COX5A MT-CO1 MT-CO2
5 mitochondrial inner membrane GO:0005743 9.1 ACADVL COX5A CPT2 MT-CO1 MT-CO2 MT-ND2

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.56 ACADVL MT-CO1 MT-CO2 MT-ND2
2 fatty acid beta-oxidation GO:0006635 9.37 ACADVL CPT2
3 proton transmembrane transport GO:1902600 9.33 COX5A MT-CO1 MT-CO2
4 response to cold GO:0009409 9.32 ACADVL MT-CO2
5 electron transport chain GO:0022900 9.13 COX5A MT-CO1 MT-CO2
6 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.8 COX5A MT-CO1 MT-CO2

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.26 ACADVL MT-CO1 MT-CO2 MT-ND2
2 electron transfer activity GO:0009055 9.16 COX5A MT-CO1
3 cytochrome-c oxidase activity GO:0004129 8.8 COX5A MT-CO1 MT-CO2

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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