MCID: MYP108
MIFTS: 24

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

Classifications:



External Ids:

Disease Ontology 12 DOID:0080099

Summaries for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

MalaCards based summary : Myopathy, Lactic Acidosis, and Sideroblastic Anemia 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Affiliated tissues include bone.

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 33)
# Related Disease Score Top Affiliating Genes
1 myopathy, lactic acidosis, and sideroblastic anemia 1 34.8 PUS1 YARS2
2 myopathy, lactic acidosis, and sideroblastic anemia 3 32.8 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
3 sideroblastic anemia 31.2 MT-ATP6 PUS1 YARS2
4 lactic acidosis 30.3 MT-ATP6 MT-CO3 MT-ND4 PUS1 YARS2
5 mitochondrial myopathy 29.5 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4 PUS1 YARS2
6 myopathy, lactic acidosis, and sideroblastic anemia 2 12.9
7 myopathy 10.7
8 muscle disorders 10.7
9 deficiency anemia 10.4
10 periodic paralysis with later-onset distal motor neuropathy 10.2 MT-ATP6 MT-ATP8
11 isolated atp synthase deficiency 10.1 MT-ATP6 MT-ATP8
12 leber optic atrophy and dystonia 9.9 MT-ND3 MT-ND4
13 diphyllobothriasis 9.9 MT-ATP8 MT-ND3
14 sparganosis 9.9 MT-ND3 MT-ND4
15 cercarial dermatitis 9.9 MT-ATP8 MT-ND4
16 deafness, aminoglycoside-induced 9.8 MT-ND4 TRMU
17 kearns-sayre syndrome 9.8 MT-ATP6 MT-ATP8 MT-ND4
18 mitochondrial complex iv deficiency 9.7 MT-CO3 MT-ND4
19 mitochondrial dna depletion syndrome 1 9.6 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3
20 deafness, nonsyndromic sensorineural, mitochondrial 9.6 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
21 optic nerve disease 9.6 MT-ATP6 MT-ND4 MT-ND4L
22 mitochondrial metabolism disease 9.6 MT-ATP6 MT-ND3 MT-ND4 YARS2
23 cardiomyopathy, infantile hypertrophic 9.2 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
24 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.1 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
25 mitochondrial encephalomyopathy 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
26 leber hereditary optic neuropathy 8.9 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L YARS2
27 striatonigral degeneration, infantile 8.8 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
28 striatonigral degeneration, infantile, mitochondrial 8.8 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
29 ataxia and polyneuropathy, adult-onset 8.8 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
30 leber optic atrophy 8.8 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
31 familial colorectal cancer 8.8 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
32 leigh syndrome 8.8 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
33 retinitis pigmentosa 8.8 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L

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:

42
Bone

Publications for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

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

# Title Authors Year
1
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. ( 30026338 )
2018
2
Morphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia. ( 28232625 )
2017
3
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. ( 24430573 )
2014
4
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. ( 25037980 )
2014
5
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. ( 23918765 )
2013
6
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. ( 20598274 )
2010
7
Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. ( 7726239 )
1995
8
Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia. ( 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

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 mitochondrial inner membrane GO:0005743 9.55 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4
2 respiratory chain GO:0070469 9.54 MT-ND3 MT-ND4 MT-ND4L
3 mitochondrial respiratory chain complex I GO:0005747 9.5 MT-ND3 MT-ND4 MT-ND4L
4 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.43 MT-ATP6 MT-ATP8
5 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.4 MT-ATP6 MT-ATP8
6 NADH dehydrogenase complex GO:0030964 9.26 MT-ND3 MT-ND4L
7 mitochondrial membrane GO:0031966 9.26 MT-ATP8 MT-ND3 MT-ND4 MT-ND4L
8 mitochondrion GO:0005739 9.17 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 PUS1 TRMU

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

# Name GO ID Score Top Affiliating Genes
1 tRNA processing GO:0008033 9.46 PUS1 TRMU
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 MT-ND3 MT-ND4
3 aerobic respiration GO:0009060 9.4 MT-CO3 MT-ND4
4 cristae formation GO:0042407 9.37 MT-ATP6 MT-ATP8
5 ATP biosynthetic process GO:0006754 9.32 MT-ATP6 MT-ATP8
6 ATP synthesis coupled proton transport GO:0015986 9.26 MT-ATP6 MT-ATP8
7 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.16 MT-ATP6 MT-ATP8
8 ATP synthesis coupled electron transport GO:0042773 8.96 MT-ND4 MT-ND4L
9 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.8 MT-ND3 MT-ND4 MT-ND4L

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

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

Sources for Myopathy, Lactic Acidosis, and Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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34 ICD10
35 ICD10 via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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