MCID: MYP108
MIFTS: 26

Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

MalaCards integrated aliases for Myopathy, Lactic Acidosis, and Sideroblastic Anemia:

Name: Myopathy, Lactic Acidosis, and Sideroblastic Anemia 12 15
Myopathy with Lactic Acidosis and Sideroblastic Anaemia 37

Classifications:



External Ids:

Disease Ontology 12 DOID:0080099
KEGG 37 H00898

Summaries for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

KEGG : 37
Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. MLASA has been associated with a missense mutation in pseudouridylate synthase 1 (PUS1), an enzyme located in both nucleus and mitochondria, which converts uridine into pseudouridine in several cytosolic and mitochondrial tRNA positions and increases the efficiency of protein synthesis in both compartments. Recentry, it has been reported that a mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, also causes MLASA. Myopathy with succinate dehydrogenase and aconitase deficiency has been found to be caused by mutations in the gene encoding the iron-sulphur cluster scaffold protein (ISCU). ISCU is essential for the activity mitochondrial iron-sulphur proteins such as succinate dehydrogenase and aconitase.

MalaCards based summary : Myopathy, Lactic Acidosis, and Sideroblastic Anemia, also known as myopathy with lactic acidosis and sideroblastic anaemia, is related to myopathy, lactic acidosis, and sideroblastic anemia 1 and myopathy, lactic acidosis, and sideroblastic anemia 3. An important gene associated with Myopathy, Lactic Acidosis, and Sideroblastic Anemia is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include bone, bone marrow and skeletal muscle.

Related Diseases for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Diseases in the Myopathy, Lactic Acidosis, and Sideroblastic Anemia family:

Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2

Diseases related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 myopathy, lactic acidosis, and sideroblastic anemia 1 35.3 YARS2 PUS1
2 myopathy, lactic acidosis, and sideroblastic anemia 3 33.1 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
3 sideroblastic anemia 31.5 YARS2 PUS1 MT-ATP6
4 lactic acidosis 30.3 YARS2 PUS1 MT-ND4 MT-CO3 MT-ATP6
5 mitochondrial metabolism disease 29.9 YARS2 MT-ND4 MT-ND3 MT-ATP6
6 mitochondrial myopathy 29.5 YARS2 PUS1 MT-ND4 MT-CO3 MT-ATP8 MT-ATP6
7 myopathy, lactic acidosis, and sideroblastic anemia 2 13.2
8 myopathy 10.7
9 deficiency anemia 10.7
10 periodic paralysis with later-onset distal motor neuropathy 10.4 MT-ATP8 MT-ATP6
11 distichiasis 10.3
12 anemia, sideroblastic, and spinocerebellar ataxia 10.3
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
14 autosomal recessive disease 10.3
15 sensorineural hearing loss 10.3
16 respiratory failure 10.3
17 iron metabolism disease 10.3
18 hypoglycemia 10.3
19 microcephaly 10.3
20 hypertrophic cardiomyopathy 10.3
21 mitochondrial disorders 10.3
22 encephalopathy 10.3
23 myoclonus 10.3
24 metabolic myopathy 10.3
25 isolated atp synthase deficiency 10.3 MT-ATP8 MT-ATP6
26 leber optic atrophy and dystonia 10.1 MT-ND4 MT-ND3
27 sparganosis 10.0 MT-ND4 MT-ND3
28 cercarial dermatitis 10.0 MT-ND4 MT-ATP8
29 diphyllobothriasis 9.9 MT-ND3 MT-ATP8
30 kearns-sayre syndrome 9.9 MT-ND4 MT-ATP8 MT-ATP6
31 deafness, aminoglycoside-induced 9.8 TRMU MT-ND4
32 deafness, nonsyndromic sensorineural, mitochondrial 9.6 MT-ND4 MT-CO3 MT-ATP8 MT-ATP6
33 myoclonic epilepsy associated with ragged-red fibers 9.5 MT-TK MT-ND4
34 cardiomyopathy, infantile hypertrophic 9.2 MT-ND4L MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
35 mitochondrial dna depletion syndrome 1 9.2 MT-TK MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
36 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.1 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP6
37 optic nerve disease 9.0 TYR MT-ND4L MT-ND4 MT-ATP6
38 ataxia and polyneuropathy, adult-onset 8.8 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
39 striatonigral degeneration, infantile 8.8 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
40 striatonigral degeneration, infantile, mitochondrial 8.8 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
41 leber optic atrophy 8.8 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
42 familial colorectal cancer 8.8 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
43 retinitis pigmentosa 8.7 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
44 mitochondrial encephalomyopathy 8.6 MT-TK MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP6
45 leigh syndrome 8.3 MT-TK MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8

Graphical network of the top 20 diseases related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia:



Diseases related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Symptoms & Phenotypes for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Drugs & Therapeutics for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Search Clinical Trials , NIH Clinical Center for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Genetic Tests for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Anatomical Context for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

MalaCards organs/tissues related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia:

41
Bone, Bone Marrow, Skeletal Muscle

Publications for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Articles related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia:

(show all 19)
# Title Authors PMID Year
1
Sideroblastic anemia associated with multisystem mitochondrial disorders. 38
30588737 2019
2
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. 38
30026338 2018
3
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth. 38
29350304 2018
4
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. 38
28395030 2017
5
Renal manifestations of primary mitochondrial disorders. 38
28515908 2017
6
Morphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia. 38
28232625 2017
7
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature. 38
25638461 2015
8
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. 38
25037980 2014
9
A framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologs. 38
24894379 2014
10
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. 38
24430573 2014
11
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. 38
23918765 2013
12
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. 38
22504945 2012
13
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. 38
20598274 2010
14
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). 38
21686963 2009
15
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). 38
17056637 2007
16
Hematological manifestations of primary mitochondrial disorders. 38
17637511 2007
17
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. 38
15971356 2005
18
Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. 38
7726239 1995
19
Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia. 38
4364695 1974

Variations for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Expression for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Search GEO for disease gene expression data for Myopathy, Lactic Acidosis, and Sideroblastic Anemia.

Pathways for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Pathways related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia according to KEGG:

37
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970

GO Terms for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Cellular components related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 YARS2 TRMU PUS1 MT-ND4 MT-ND3 MT-CO3
2 mitochondrial inner membrane GO:0005743 9.65 MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
3 respiratory chain GO:0070469 9.54 MT-ND4L MT-ND4 MT-ND3
4 mitochondrial respiratory chain complex I GO:0005747 9.5 MT-ND4L MT-ND4 MT-ND3
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.43 MT-ATP8 MT-ATP6
6 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.4 MT-ATP8 MT-ATP6
7 mitochondrial membrane GO:0031966 9.26 MT-ND4L MT-ND4 MT-ND3 MT-ATP8
8 NADH dehydrogenase complex GO:0030964 8.62 MT-ND4L MT-ND3

Biological processes related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.73 TYR MT-ND4L MT-ND4 MT-ND3
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.46 MT-ND4 MT-ND3
3 aerobic respiration GO:0009060 9.4 MT-ND4 MT-CO3
4 cristae formation GO:0042407 9.37 MT-ATP8 MT-ATP6
5 ATP biosynthetic process GO:0006754 9.32 MT-ATP8 MT-ATP6
6 ATP synthesis coupled proton transport GO:0015986 9.26 MT-ATP8 MT-ATP6
7 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.16 MT-ATP8 MT-ATP6
8 ATP synthesis coupled electron transport GO:0042773 8.96 MT-ND4L MT-ND4
9 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.8 MT-ND4L MT-ND4 MT-ND3

Molecular functions related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.26 TYR MT-ND4L
2 proton transmembrane transporter activity GO:0015078 9.16 MT-ATP8 MT-ATP6
3 tRNA binding GO:0000049 9.13 YARS2 TRMU PUS1
4 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND4L MT-ND4 MT-ND3

Sources for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

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10 dbSNP
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17 EFO
18 ExPASy
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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