MLASA1
MCID: MYP021
MIFTS: 40

Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 (MLASA1)

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 1

MalaCards integrated aliases for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1:

Name: Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 57 12 29 6
Mitochondrial Myopathy and Sideroblastic Anemia 57 59 74 6 72
Mlasa1 57 12 74
Myopathy, Lactic Acidosis and Sideroblastic Anemia 53 59
Sideroblastic Anemia and Mitochondrial Myopathy 53 40
Mlasa 53 59
Myopathy with Lactic Acidosis and Sideroblastic Anemia 1 74
Myopathy with Lactic Acidosis and Sideroblastic Anemia 53
Msa 59

Characteristics:

Orphanet epidemiological data:

59
mitochondrial myopathy and sideroblastic anemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood


HPO:

32
myopathy, lactic acidosis, and sideroblastic anemia 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111185
MESH via Orphanet 45 C536101
ICD10 via Orphanet 34 G71.3
UMLS via Orphanet 73 C1838103
Orphanet 59 ORPHA2598
UMLS 72 C1838103

Summaries for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2598DefinitionMitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.EpidemiologyLess than 10 cases have been described so far.EtiologyA 656C-->T mutation in the nuclear pseudouridine synthase 1 gene (PUS1), localised to 12q24.33, has recently been identified in some patients. Deficient pseudouridylation of mitochondrial tRNAs may be responsible for the oxidative phosphorylation disorder.Diagnostic methodsMuscle biopsy demonstrates low activity of complexes 1 and 4 of the respiratory chain and paracrystalline inclusions can be revealed in most mitochondria by electron microscopy.Genetic counselingTransmission is autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1, also known as mitochondrial myopathy and sideroblastic anemia, is related to myopathy, lactic acidosis, and sideroblastic anemia and myopathy. An important gene associated with Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 is PUS1 (Pseudouridine Synthase 1). Affiliated tissues include bone, bone marrow and skeletal muscle, and related phenotypes are high palate and muscular hypotonia

Disease Ontology : 12 A myopathy, lactic acidosis, and sideroblastic anemia that has material basis in homozygous or compound heterozygous mutation in PUS1 on 12q24.

OMIM : 57 Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow (Bykhovskaya et al., 2004). (600462)

UniProtKB/Swiss-Prot : 74 Myopathy with lactic acidosis and sideroblastic anemia 1: A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth.

Related Diseases for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 myopathy, lactic acidosis, and sideroblastic anemia 32.1 YARS2 PUS1
2 myopathy 30.1 YARS2 PUS1
3 lactic acidosis 30.0 YARS2 PUS1
4 sideroblastic anemia 29.8 YARS2 PUS1
5 mitochondrial myopathy 29.5 YARS2 PUS1
6 multiple system atrophy 1 12.6
7 olivopontocerebellar atrophy 11.7
8 multiple system atrophy, parkinsonian type 11.7
9 multiple system atrophy, cerebellar type 11.7
10 striatonigral degeneration 11.7
11 spinocerebellar degeneration 11.5
12 multiple system atrophy with orthostatic hypotension 11.4
13 myopathy, lactic acidosis, and sideroblastic anemia 3 11.3
14 myopathy, lactic acidosis, and sideroblastic anemia 2 11.3
15 obsolete: shy-drager syndrome 11.2
16 spinal muscular atrophy 11.2
17 ataxia and polyneuropathy, adult-onset 10.6
18 supranuclear palsy, progressive, 1 10.5
19 aceruloplasminemia 10.5
20 deficiency anemia 10.5
21 autonomic dysfunction 10.4
22 autosomal dominant cerebellar ataxia 10.3
23 pure autonomic failure 10.3
24 dysautonomia 10.3
25 kearns-sayre syndrome 10.3
26 mitochondrial disorders 10.3
27 distichiasis 10.3
28 hypoglycemia 10.3
29 microcephaly 10.3
30 encephalopathy 10.3
31 metabolic myopathy 10.3
32 corticobasal degeneration 10.2
33 dysphagia 10.2
34 tremor 10.2
35 anemia, sideroblastic, and spinocerebellar ataxia 10.2
36 pearson marrow-pancreas syndrome 10.2
37 autosomal recessive disease 10.2
38 mitochondrial metabolism disease 10.2
39 breast cancer 10.1
40 fibrosarcoma 10.1
41 breast disease 10.1
42 rem sleep behavior disorder 10.1
43 cerebellar degeneration 10.1
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
45 sensorineural hearing loss 10.1
46 respiratory failure 10.1
47 iron metabolism disease 10.1
48 hypertrophic cardiomyopathy 10.1
49 autoimmune disease 10.0
50 bladder cancer 10.0

Graphical network of the top 20 diseases related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1:



Diseases related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

Symptoms & Phenotypes for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

Human phenotypes related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
4 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
5 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
6 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
7 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
8 lactic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003128
9 mitochondrial myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003737
10 distichiasis 59 32 very rare (1%) Very frequent (99-80%) HP:0009743
11 generalized limb muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009055
12 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
13 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
14 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
15 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
16 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
17 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
18 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
19 failure to thrive 32 HP:0001508
20 abnormality of metabolism/homeostasis 59 Very frequent (99-80%)
21 pallor 32 HP:0000980
22 microcytic anemia 32 HP:0001935
23 increased serum lactate 32 HP:0002151
24 hypochromic anemia 32 HP:0001931
25 exercise intolerance 32 HP:0003546
26 progressive muscle weakness 32 HP:0003323
27 increased serum ferritin 32 HP:0003281
28 cytochrome c oxidase-negative muscle fibers 32 HP:0003688
29 erythroid hyperplasia 32 HP:0012132
30 sideroblastic anemia 32 HP:0001924
31 pappenheimer bodies 32 HP:0020081

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
delayed growth
delayed pubertal development

Hematology:
microcytic anemia
hypochromic anemia
sideroblastic anemia
pappenheimer bodies
bone marrow biopsy shows erythroid hyperplasia
more
Metabolic Features:
lactic acidosis

Neurologic Central Nervous System:
mental retardation (in some patients)
intellectual disability (in some patients)

Head And Neck Face:
micrognathia (1 family)
high philtrum (1 family)

Head And Neck Mouth:
high-arched palate (1 family)

Skin Nails Hair Skin:
pallor

Laboratory Abnormalities:
increased serum lactate
increased serum ferritin

Muscle Soft Tissue:
exercise intolerance
generalized limb muscle atrophy
muscle weakness, progressive
decreased cytochrome c oxidase activity
fat droplets in sarcoplasm and mitochondria seen on skeletal muscle biopsy
more
Head And Neck Head:
microcephaly (in some patients)

Head And Neck Eyes:
distichiasis (double row of eyelashes, 1 family)

Clinical features from OMIM:

600462

Drugs & Therapeutics for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

Search Clinical Trials , NIH Clinical Center for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

Genetic Tests for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

Genetic tests related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1:

# Genetic test Affiliating Genes
1 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 29 PUS1

Anatomical Context for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

MalaCards organs/tissues related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1:

41
Bone, Bone Marrow, Skeletal Muscle

Publications for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

Articles related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1:

(show all 18)
# Title Authors PMID Year
1
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). 38 8 71
15108122 2004
2
Mitochondrial myopathy and sideroblastic anemia. 38 8 71
14981724 2004
3
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood. 8 71
25227147 2015
4
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). 8 71
17056637 2007
5
Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. 8 71
7726239 1995
6
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. 38 8
15772074 2005
7
Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33. 38 8
15103716 2004
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. 71
25037980 2014
9
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. 71
24430573 2014
10
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. 71
24344687 2013
11
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. 71
23918765 2013
12
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. 71
22504945 2012
13
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. 71
20598274 2010
14
Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy. 71
12075011 2002
15
Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia. 8
4364695 1974
16
An investigation into eukaryotic pseudouridine synthases. 38
25152040 2014
17
Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA). 38
17374500 2007
18
Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling. 38
17170069 2007

Variations for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

ClinVar genetic disease variations for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1:

6 (show top 50) (show all 73)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PUS1 NM_001002020.3(PUS1): c.346C> T (p.Arg116Trp) single nucleotide variant Pathogenic rs104894371 12:132416846-132416846 12:131932301-131932301
2 PUS1 NM_001002020.3(PUS1): c.574G> T (p.Glu192Ter) single nucleotide variant Pathogenic rs104894372 12:132425950-132425950 12:131941405-131941405
3 PUS1 NM_001002020.3(PUS1): c.799C> T (p.Arg267Trp) single nucleotide variant Pathogenic rs869025309 12:132426175-132426175 12:131941630-131941630
4 PUS1 NM_001002020.3(PUS1): c.633C> A (p.Tyr211Ter) single nucleotide variant Likely pathogenic rs779651314 12:132426009-132426009 12:131941464-131941464
5 PUS1 NM_001002020.3(PUS1): c.729del (p.Phe244fs) deletion Likely pathogenic 12:132426105-132426105 12:131941560-131941560
6 YARS2 NM_001040436.3(YARS2): c.477C> T (p.Phe159=) single nucleotide variant Conflicting interpretations of pathogenicity rs774325742 12:32908332-32908332 12:32755398-32755398
7 DNM1L ; YARS2 NM_001040436.3(YARS2): c.*142T> C single nucleotide variant Conflicting interpretations of pathogenicity rs190589666 12:32899996-32899996 12:32747062-32747062
8 DNM1L ; YARS2 NM_001040436.3(YARS2): c.*62G> A single nucleotide variant Conflicting interpretations of pathogenicity rs527443669 12:32900076-32900076 12:32747142-32747142
9 PUS1 NM_001002020.3(PUS1): c.936C> T (p.Phe312=) single nucleotide variant Conflicting interpretations of pathogenicity rs202059921 12:132426312-132426312 12:131941767-131941767
10 PUS1 NM_001002020.3(PUS1): c.1182G> A (p.Gly394=) single nucleotide variant Conflicting interpretations of pathogenicity rs201441662 12:132428113-132428113 12:131943568-131943568
11 YARS2 NM_001040436.3(YARS2): c.870T> C (p.Val290=) single nucleotide variant Conflicting interpretations of pathogenicity rs142067801 12:32906929-32906929 12:32753995-32753995
12 DNM1L ; YARS2 NM_001040436.3(YARS2): c.*360A> G single nucleotide variant Conflicting interpretations of pathogenicity rs567955032 12:32899778-32899778 12:32746844-32746844
13 YARS2 NM_001040436.3(YARS2): c.930G> A (p.Pro310=) single nucleotide variant Conflicting interpretations of pathogenicity rs147551647 12:32906869-32906869 12:32753935-32753935
14 YARS2 NM_001040436.3(YARS2): c.819A> G (p.Leu273=) single nucleotide variant Conflicting interpretations of pathogenicity rs149781186 12:32906980-32906980 12:32754046-32754046
15 YARS2 NM_001040436.3(YARS2): c.535A> C (p.Lys179Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147630375 12:32908274-32908274 12:32755340-32755340
16 YARS2 NM_001040436.3(YARS2): c.104C> A (p.Ala35Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs149447502 12:32908705-32908705 12:32755771-32755771
17 DNM1L ; YARS2 NM_001040436.3(YARS2): c.*230A> G single nucleotide variant Conflicting interpretations of pathogenicity rs371690622 12:32899908-32899908 12:32746974-32746974
18 DNM1L ; YARS2 NM_001040436.3(YARS2): c.*126_*127del deletion Conflicting interpretations of pathogenicity rs141873255 12:32900011-32900012 12:32747077-32747078
19 PUS1 NM_001002020.3(PUS1): c.810C> T (p.Val270=) single nucleotide variant Conflicting interpretations of pathogenicity rs201908893 12:132426186-132426186 12:131941641-131941641
20 YARS2 NM_001040436.3(YARS2): c.456G> A (p.Ala152=) single nucleotide variant Conflicting interpretations of pathogenicity rs201940521 12:32908353-32908353 12:32755419-32755419
21 PUS1 NM_001002020.3(PUS1): c.1113C> T (p.Phe371=) single nucleotide variant Conflicting interpretations of pathogenicity rs35461276 12:132426489-132426489 12:131941944-131941944
22 PUS1 NM_001002020.3(PUS1): c.-11+56G> C single nucleotide variant Uncertain significance rs886049088 12:132413981-132413981 12:131929436-131929436
23 PUS1 NM_001002020.3(PUS1): c.-11+97G> A single nucleotide variant Uncertain significance rs886049090 12:132414022-132414022 12:131929477-131929477
24 PUS1 NM_001002020.3(PUS1): c.132T> C (p.Gly44=) single nucleotide variant Uncertain significance rs766451588 12:132414593-132414593 12:131930048-131930048
25 PUS1 NM_001002020.3(PUS1): c.339C> A (p.Arg113=) single nucleotide variant Uncertain significance rs371752870 12:132416839-132416839 12:131932294-131932294
26 PUS1 NM_001002020.3(PUS1): c.1051G> A (p.Gly351Ser) single nucleotide variant Uncertain significance rs886049093 12:132426427-132426427 12:131941882-131941882
27 PUS1 NM_001002020.3(PUS1): c.*120G> A single nucleotide variant Uncertain significance rs569395844 12:132428251-132428251 12:131943706-131943706
28 YARS2 NM_001040436.3(YARS2): c.*24A> G single nucleotide variant Uncertain significance rs368305831 12:32900114-32900114 12:32747180-32747180
29 YARS2 NM_001040436.3(YARS2): c.934G> C (p.Asp312His) single nucleotide variant Uncertain significance rs190043383 12:32906865-32906865 12:32753931-32753931
30 YARS2 NM_001040436.3(YARS2): c.1241G> A (p.Arg414His) single nucleotide variant Uncertain significance rs762786998 12:32902904-32902904 12:32749970-32749970
31 YARS2 NM_001040436.3(YARS2): c.917T> C (p.Phe306Ser) single nucleotide variant Uncertain significance rs376934259 12:32906882-32906882 12:32753948-32753948
32 YARS2 NM_001040436.3(YARS2): c.626A> G (p.Lys209Arg) single nucleotide variant Uncertain significance rs541554381 12:32908183-32908183 12:32755249-32755249
33 PUS1 NM_001002020.3(PUS1): c.-11+77G> C single nucleotide variant Uncertain significance rs886049089 12:132414002-132414002 12:131929457-131929457
34 YARS2 NM_001040436.3(YARS2): c.30C> T (p.Ser10=) single nucleotide variant Uncertain significance rs886049305 12:32908779-32908779 12:32755845-32755845
35 PUS1 NM_001002020.3(PUS1): c.-11+99G> C single nucleotide variant Uncertain significance rs886049091 12:132414024-132414024 12:131929479-131929479
36 PUS1 NM_001002020.3(PUS1): c.599C> T (p.Thr200Met) single nucleotide variant Uncertain significance rs755448329 12:132425975-132425975 12:131941430-131941430
37 YARS2 NM_001040436.3(YARS2): c.234T> C (p.Cys78=) single nucleotide variant Uncertain significance rs565102282 12:32908575-32908575 12:32755641-32755641
38 PUS1 NM_025215.5(PUS1): c.-453C> T single nucleotide variant Uncertain significance rs551126678 12:132413815-132413815 12:131929270-131929270
39 PUS1 NM_001002020.3(PUS1): c.123C> G (p.Leu41=) single nucleotide variant Uncertain significance rs140067992 12:132414584-132414584 12:131930039-131930039
40 PUS1 NM_001002020.3(PUS1): c.559C> T (p.Arg187Trp) single nucleotide variant Uncertain significance rs776342428 12:132425935-132425935 12:131941390-131941390
41 PUS1 NM_001002020.3(PUS1): c.560G> A (p.Arg187Gln) single nucleotide variant Uncertain significance rs745345996 12:132425936-132425936 12:131941391-131941391
42 PUS1 NM_001002020.3(PUS1): c.641C> T (p.Thr214Met) single nucleotide variant Uncertain significance rs886049092 12:132426017-132426017 12:131941472-131941472
43 PUS1 NM_001002020.3(PUS1): c.*122C> T single nucleotide variant Uncertain significance rs747836180 12:132428253-132428253 12:131943708-131943708
44 PUS1 NM_001002020.3(PUS1): c.*152A> T single nucleotide variant Uncertain significance rs188546423 12:132428283-132428283 12:131943738-131943738
45 YARS2 NM_001040436.3(YARS2): c.*627A> T single nucleotide variant Uncertain significance rs886049303 12:32899511-32899511 12:32746577-32746577
46 YARS2 NM_001040436.2(YARS2): c.1104-13dupA duplication Uncertain significance rs761612441 12:32903054-32903054 12:32750120-32750120
47 YARS2 NM_001040436.3(YARS2): c.327C> G (p.Ile109Met) single nucleotide variant Uncertain significance rs886049304 12:32908482-32908482 12:32755548-32755548
48 YARS2 NM_001040436.3(YARS2): c.180G> A (p.Glu60=) single nucleotide variant Uncertain significance rs137922867 12:32908629-32908629 12:32755695-32755695
49 DNM1L ; YARS2 NM_001040436.3(YARS2): c.1356A> G (p.Gln452=) single nucleotide variant Likely benign rs148729348 12:32900216-32900216 12:32747282-32747282
50 DNM1L ; YARS2 NM_012062.5(DNM1L): c.*393A> C single nucleotide variant Likely benign rs77298476 12:32896737-32896737 12:32743803-32743803

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1:

74
# Symbol AA change Variation ID SNP ID
1 PUS1 p.Arg144Trp VAR_021788 rs104894371

Expression for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

Search GEO for disease gene expression data for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1.

Pathways for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

GO Terms for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

Cellular components related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.96 YARS2 PUS1
2 mitochondrial matrix GO:0005759 8.62 YARS2 PUS1

Molecular functions related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 8.96 YARS2 PUS1
2 tRNA binding GO:0000049 8.62 YARS2 PUS1

Sources for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

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