MLASA1
MCID: MYP021
MIFTS: 37

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 58 30 6
Mitochondrial Myopathy and Sideroblastic Anemia 58 60 76 6 74
Myopathy, Lactic Acidosis and Sideroblastic Anemia 54 60
Sideroblastic Anemia and Mitochondrial Myopathy 54 41
Mlasa1 58 76
Mlasa 54 60
Myopathy with Lactic Acidosis and Sideroblastic Anemia 1 76
Myopathy with Lactic Acidosis and Sideroblastic Anaemia 38
Myopathy with Lactic Acidosis and Sideroblastic Anemia 54
Msa 60

Characteristics:

Orphanet epidemiological data:

60
mitochondrial myopathy and sideroblastic anemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood


HPO:

33
myopathy, lactic acidosis, and sideroblastic anemia 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2598Disease definitionMitochondrial 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 and sideroblastic anemia. An important gene associated with Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 is PUS1 (Pseudouridine Synthase 1), and among its related pathways/superpathways is Aminoacyl-tRNA biosynthesis. Affiliated tissues include bone, bone marrow and skeletal muscle, and related phenotypes are high palate and muscular hypotonia

OMIM : 58 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 : 76 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 all 44)
# Related Disease Score Top Affiliating Genes
1 myopathy 30.3 PUS1 YARS2
2 sideroblastic anemia 30.2 PUS1 YARS2
3 lactic acidosis 30.1 PUS1 YARS2
4 myopathy, lactic acidosis, and sideroblastic anemia 30.0 PUS1 YARS2
5 mitochondrial myopathy 30.0 PUS1 YARS2
6 multiple system atrophy 1 12.4
7 multiple system atrophy, cerebellar type 11.6
8 olivopontocerebellar atrophy 11.3
9 striatonigral degeneration 11.3
10 multiple system atrophy, parkinsonian type 11.3
11 myopathy, lactic acidosis, and sideroblastic anemia 3 11.1
12 myopathy, lactic acidosis, and sideroblastic anemia 2 11.1
13 spinal muscular atrophy 11.1
14 ataxia and polyneuropathy, adult-onset 10.2
15 muscle disorders 10.1
16 supranuclear palsy, progressive, 1 10.1
17 autosomal dominant cerebellar ataxia 10.1
18 fibrosarcoma 10.1
19 aceruloplasminemia 10.0
20 rem sleep behavior disorder 10.0
21 deficiency anemia 10.0
22 amyotrophic lateral sclerosis 1 9.9
23 breast cancer 9.9
24 creutzfeldt-jakob disease 9.9
25 diaphragmatic hernia, congenital 9.9
26 small cell cancer of the lung 9.9
27 tetralogy of fallot 9.9
28 lung cancer 9.9
29 thymoma, familial 9.9
30 spinocerebellar ataxia 17 9.9
31 spastic paraplegia 7, autosomal recessive 9.9
32 mutagen sensitivity 9.9
33 sleep apnea 9.9
34 sarcoma 9.9
35 anhidrosis 9.9
36 dementia 9.9
37 impotence 9.9
38 lateral sclerosis 9.9
39 thymoma 9.9
40 embryonal carcinoma 9.9
41 corticobasal degeneration 9.9
42 tremor 9.9
43 dementia - subcortical 9.9
44 dysautonomia 9.9

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:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 myopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003198
4 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
5 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
6 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
7 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
8 lactic acidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003128
9 mitochondrial myopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003737
10 distichiasis 60 33 very rare (1%) Very frequent (99-80%) HP:0009743
11 generalized limb muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009055
12 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
13 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
14 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
15 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
16 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
17 delayed puberty 60 33 frequent (33%) Frequent (79-30%) HP:0000823
18 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501
19 failure to thrive 33 HP:0001508
20 abnormality of metabolism/homeostasis 60 Very frequent (99-80%)
21 pallor 33 HP:0000980
22 microcytic anemia 33 HP:0001935
23 increased serum lactate 33 HP:0002151
24 hypochromic anemia 33 HP:0001931
25 exercise intolerance 33 HP:0003546
26 progressive muscle weakness 33 HP:0003323
27 increased serum ferritin 33 HP:0003281
28 cytochrome c oxidase-negative muscle fibers 33 HP:0003688
29 sideroblastic anemia 33 HP:0001924
30 erythroid hyperplasia 33 HP:0012132

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive
delayed growth
delayed pubertal development

Hematology:
microcytic anemia
hypochromic anemia
sideroblastic anemia
bone marrow biopsy shows erythroid hyperplasia
ringed sideroblasts on peripheral smear and bone marrow
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 30 PUS1

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

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

42
Bone, Bone Marrow, Skeletal Muscle

Publications for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

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

# Title Authors Year
1
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood. ( 25227147 )
2015
2
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). ( 17056637 )
2007
3
Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA). ( 17374500 )
2007
4
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. ( 15772074 )
2005
5
Mitochondrial myopathy and sideroblastic anemia. ( 14981724 )
2004
6
Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33. ( 15103716 )
2004
7
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). ( 15108122 )
2004
8
Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. ( 7726239 )
1995

Variations for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

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

76
# Symbol AA change Variation ID SNP ID
1 PUS1 p.Arg144Trp VAR_021788 rs104894371

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

6 (show top 50) (show all 146)
# Gene Variation Type Significance SNP ID Assembly Location
1 PUS1 NM_001002020.2(PUS1): c.346C> T (p.Arg116Trp) single nucleotide variant Pathogenic rs104894371 GRCh37 Chromosome 12, 132416846: 132416846
2 PUS1 NM_001002020.2(PUS1): c.346C> T (p.Arg116Trp) single nucleotide variant Pathogenic rs104894371 GRCh38 Chromosome 12, 131932301: 131932301
3 PUS1 NM_001002020.2(PUS1): c.574G> T (p.Glu192Ter) single nucleotide variant Pathogenic rs104894372 GRCh37 Chromosome 12, 132425950: 132425950
4 PUS1 NM_001002020.2(PUS1): c.574G> T (p.Glu192Ter) single nucleotide variant Pathogenic rs104894372 GRCh38 Chromosome 12, 131941405: 131941405
5 YARS2 NM_001040436.2(YARS2): c.456G> A (p.Ala152=) single nucleotide variant Conflicting interpretations of pathogenicity rs201940521 GRCh37 Chromosome 12, 32908353: 32908353
6 YARS2 NM_001040436.2(YARS2): c.456G> A (p.Ala152=) single nucleotide variant Conflicting interpretations of pathogenicity rs201940521 GRCh38 Chromosome 12, 32755419: 32755419
7 YARS2 NM_001040436.2(YARS2): c.1026G> A (p.Arg342=) single nucleotide variant Benign/Likely benign rs35339227 GRCh37 Chromosome 12, 32903730: 32903730
8 YARS2 NM_001040436.2(YARS2): c.1026G> A (p.Arg342=) single nucleotide variant Benign/Likely benign rs35339227 GRCh38 Chromosome 12, 32750796: 32750796
9 YARS2 NM_001040436.2(YARS2): c.291C> T (p.Gly97=) single nucleotide variant Benign/Likely benign rs11539444 GRCh37 Chromosome 12, 32908518: 32908518
10 YARS2 NM_001040436.2(YARS2): c.291C> T (p.Gly97=) single nucleotide variant Benign/Likely benign rs11539444 GRCh38 Chromosome 12, 32755584: 32755584
11 PUS1 NM_025215.5(PUS1): c.1197C> T (p.Phe399=) single nucleotide variant Conflicting interpretations of pathogenicity rs35461276 GRCh37 Chromosome 12, 132426489: 132426489
12 PUS1 NM_025215.5(PUS1): c.1197C> T (p.Phe399=) single nucleotide variant Conflicting interpretations of pathogenicity rs35461276 GRCh38 Chromosome 12, 131941944: 131941944
13 PUS1 NM_025215.5(PUS1): c.364C> A (p.Arg122=) single nucleotide variant Benign/Likely benign rs142954643 GRCh37 Chromosome 12, 132416780: 132416780
14 PUS1 NM_025215.5(PUS1): c.364C> A (p.Arg122=) single nucleotide variant Benign/Likely benign rs142954643 GRCh38 Chromosome 12, 131932235: 131932235
15 PUS1 NM_025215.5(PUS1): c.397G> A (p.Asp133Asn) single nucleotide variant Benign/Likely benign rs76655496 GRCh37 Chromosome 12, 132416813: 132416813
16 PUS1 NM_025215.5(PUS1): c.397G> A (p.Asp133Asn) single nucleotide variant Benign/Likely benign rs76655496 GRCh38 Chromosome 12, 131932268: 131932268
17 PUS1 NM_025215.5(PUS1): c.*16C> T single nucleotide variant Benign/Likely benign rs116003934 GRCh37 Chromosome 12, 132428147: 132428147
18 PUS1 NM_025215.5(PUS1): c.*16C> T single nucleotide variant Benign/Likely benign rs116003934 GRCh38 Chromosome 12, 131943602: 131943602
19 YARS2 NM_001040436.2(YARS2): c.104C> A (p.Ala35Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs149447502 GRCh38 Chromosome 12, 32755771: 32755771
20 YARS2 NM_001040436.2(YARS2): c.104C> A (p.Ala35Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs149447502 GRCh37 Chromosome 12, 32908705: 32908705
21 PUS1 NM_001002020.2(PUS1): c.799C> T (p.Arg267Trp) single nucleotide variant Pathogenic rs869025309 GRCh37 Chromosome 12, 132426175: 132426175
22 PUS1 NM_001002020.2(PUS1): c.799C> T (p.Arg267Trp) single nucleotide variant Pathogenic rs869025309 GRCh38 Chromosome 12, 131941630: 131941630
23 PUS1 NM_025215.5(PUS1): c.-287G> C single nucleotide variant Uncertain significance rs886049088 GRCh37 Chromosome 12, 132413981: 132413981
24 PUS1 NM_025215.5(PUS1): c.-287G> C single nucleotide variant Uncertain significance rs886049088 GRCh38 Chromosome 12, 131929436: 131929436
25 PUS1 NM_025215.5(PUS1): c.-246G> A single nucleotide variant Uncertain significance rs886049090 GRCh37 Chromosome 12, 132414022: 132414022
26 PUS1 NM_025215.5(PUS1): c.-246G> A single nucleotide variant Uncertain significance rs886049090 GRCh38 Chromosome 12, 131929477: 131929477
27 PUS1 NM_025215.5(PUS1): c.216T> C (p.Gly72=) single nucleotide variant Uncertain significance rs766451588 GRCh37 Chromosome 12, 132414593: 132414593
28 PUS1 NM_025215.5(PUS1): c.216T> C (p.Gly72=) single nucleotide variant Uncertain significance rs766451588 GRCh38 Chromosome 12, 131930048: 131930048
29 PUS1 NM_025215.5(PUS1): c.423C> A (p.Arg141=) single nucleotide variant Uncertain significance rs371752870 GRCh37 Chromosome 12, 132416839: 132416839
30 PUS1 NM_025215.5(PUS1): c.423C> A (p.Arg141=) single nucleotide variant Uncertain significance rs371752870 GRCh38 Chromosome 12, 131932294: 131932294
31 PUS1 NM_025215.5(PUS1): c.1135G> A (p.Gly379Ser) single nucleotide variant Uncertain significance rs886049093 GRCh37 Chromosome 12, 132426427: 132426427
32 PUS1 NM_025215.5(PUS1): c.1135G> A (p.Gly379Ser) single nucleotide variant Uncertain significance rs886049093 GRCh38 Chromosome 12, 131941882: 131941882
33 DNM1L; YARS2 NM_012062.4(DNM1L): c.*600C> T single nucleotide variant Benign/Likely benign rs3600 GRCh37 Chromosome 12, 32896944: 32896944
34 DNM1L; YARS2 NM_012062.4(DNM1L): c.*600C> T single nucleotide variant Benign/Likely benign rs3600 GRCh38 Chromosome 12, 32744010: 32744010
35 DNM1L; YARS2 NM_001278464.1(DNM1L): c.*1213G> T single nucleotide variant Benign/Likely benign rs11052213 GRCh37 Chromosome 12, 32897557: 32897557
36 DNM1L; YARS2 NM_001278464.1(DNM1L): c.*1213G> T single nucleotide variant Benign/Likely benign rs11052213 GRCh38 Chromosome 12, 32744623: 32744623
37 YARS2 NM_001040436.2(YARS2): c.*627A> T single nucleotide variant Uncertain significance rs886049303 GRCh38 Chromosome 12, 32746577: 32746577
38 YARS2 NM_001040436.2(YARS2): c.*627A> T single nucleotide variant Uncertain significance rs886049303 GRCh37 Chromosome 12, 32899511: 32899511
39 DNM1L; YARS2 NM_001040436.2(YARS2): c.*230A> G single nucleotide variant Conflicting interpretations of pathogenicity rs371690622 GRCh37 Chromosome 12, 32899908: 32899908
40 DNM1L; YARS2 NM_001040436.2(YARS2): c.*230A> G single nucleotide variant Conflicting interpretations of pathogenicity rs371690622 GRCh38 Chromosome 12, 32746974: 32746974
41 DNM1L; YARS2 NM_001040436.2(YARS2): c.*191T> C single nucleotide variant Likely benign rs144235100 GRCh37 Chromosome 12, 32899947: 32899947
42 DNM1L; YARS2 NM_001040436.2(YARS2): c.*191T> C single nucleotide variant Likely benign rs144235100 GRCh38 Chromosome 12, 32747013: 32747013
43 DNM1L; YARS2 NM_001040436.2(YARS2): c.*126_*127delAG deletion Conflicting interpretations of pathogenicity rs141873255 GRCh37 Chromosome 12, 32900011: 32900012
44 DNM1L; YARS2 NM_001040436.2(YARS2): c.*126_*127delAG deletion Conflicting interpretations of pathogenicity rs141873255 GRCh38 Chromosome 12, 32747077: 32747078
45 YARS2 NM_001040436.2(YARS2): c.1241G> A (p.Arg414His) single nucleotide variant Uncertain significance rs762786998 GRCh38 Chromosome 12, 32749970: 32749970
46 YARS2 NM_001040436.2(YARS2): c.1241G> A (p.Arg414His) single nucleotide variant Uncertain significance rs762786998 GRCh37 Chromosome 12, 32902904: 32902904
47 YARS2 NM_001040436.2(YARS2): c.917T> C (p.Phe306Ser) single nucleotide variant Uncertain significance rs376934259 GRCh38 Chromosome 12, 32753948: 32753948
48 YARS2 NM_001040436.2(YARS2): c.917T> C (p.Phe306Ser) single nucleotide variant Uncertain significance rs376934259 GRCh37 Chromosome 12, 32906882: 32906882
49 YARS2 NM_001040436.2(YARS2): c.626A> G (p.Lys209Arg) single nucleotide variant Uncertain significance rs541554381 GRCh38 Chromosome 12, 32755249: 32755249
50 YARS2 NM_001040436.2(YARS2): c.626A> G (p.Lys209Arg) single nucleotide variant Uncertain significance rs541554381 GRCh37 Chromosome 12, 32908183: 32908183

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

Pathways related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 according to KEGG:

38
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970

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 PUS1 YARS2
2 mitochondrial matrix GO:0005759 8.62 PUS1 YARS2

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 PUS1 YARS2
2 tRNA binding GO:0000049 8.62 PUS1 YARS2

Sources for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

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