MLASA1
MCID: MTC064
MIFTS: 33

Mitochondrial Myopathy and Sideroblastic Anemia 1 (MLASA1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Mitochondrial Myopathy and Sideroblastic Anemia 1

Aliases & Descriptions for Mitochondrial Myopathy and Sideroblastic Anemia 1:

Name: Mitochondrial Myopathy and Sideroblastic Anemia 1 54 13
Mitochondrial Myopathy and Sideroblastic Anemia 24 56 66 29 69
Myopathy with Lactic Acidosis and Sideroblastic Anemia 1 66 29
Myopathy, Lactic Acidosis and Sideroblastic Anemia 50 56
Mlasa1 24 66
Mlasa 50 56
Myopathy with Lactic Acidosis and Sideroblastic Anemia 50
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 24
Sideroblastic Anemia and Mitochondrial Myopathy 50
Msa 56

Characteristics:

Orphanet epidemiological data:

56
mitochondrial myopathy and sideroblastic anemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

HPO:

32
mitochondrial myopathy and sideroblastic anemia 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 600462
Orphanet 56 ORPHA2598
MESH via Orphanet 43 C536101
ICD10 via Orphanet 34 G71.3
UMLS via Orphanet 70 C1838103
MedGen 40 C1838103

Summaries for Mitochondrial Myopathy and Sideroblastic Anemia 1

OMIM : 54 Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation... (600462) more...

MalaCards based summary : Mitochondrial Myopathy and Sideroblastic Anemia 1, also known as mitochondrial myopathy and sideroblastic anemia, is related to multiple system atrophy and olivopontocerebellar atrophy, and has symptoms including high palate, intellectual disability and muscular hypotonia. An important gene associated with Mitochondrial Myopathy and Sideroblastic Anemia 1 is PUS1 (Pseudouridylate Synthase 1). Affiliated tissues include bone, bone marrow and skeletal muscle.

UniProtKB/Swiss-Prot : 66 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 Mitochondrial Myopathy and Sideroblastic Anemia 1

Graphical network of the top 20 diseases related to Mitochondrial Myopathy and Sideroblastic Anemia 1:



Diseases related to Mitochondrial Myopathy and Sideroblastic Anemia 1

Symptoms & Phenotypes for Mitochondrial Myopathy and Sideroblastic Anemia 1

Symptoms by clinical synopsis from OMIM:

600462

Clinical features from OMIM:

600462

Human phenotypes related to Mitochondrial Myopathy and Sideroblastic Anemia 1:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 56 32 Very frequent (99-80%) HP:0000218
2 intellectual disability 56 32 Frequent (79-30%) HP:0001249
3 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
4 scoliosis 56 32 Frequent (79-30%) HP:0002650
5 kyphosis 56 32 Frequent (79-30%) HP:0002808
6 short nose 56 32 Frequent (79-30%) HP:0003196
7 microcephaly 56 32 Frequent (79-30%) HP:0000252
8 delayed puberty 56 32 Frequent (79-30%) HP:0000823
9 myopathy 56 32 Very frequent (99-80%) HP:0003198
10 emg abnormality 56 32 Very frequent (99-80%) HP:0003457
11 anemia 56 32 Very frequent (99-80%) HP:0001903
12 long philtrum 56 32 Very frequent (99-80%) HP:0000343
13 micrognathia 56 32 Very frequent (99-80%) HP:0000347
14 lactic acidosis 56 32 Very frequent (99-80%) HP:0003128
15 mitochondrial myopathy 56 32 Very frequent (99-80%) HP:0003737
16 glaucoma 56 32 Frequent (79-30%) HP:0000501
17 distichiasis 56 32 Very frequent (99-80%) HP:0009743
18 generalized limb muscle atrophy 56 32 Very frequent (99-80%) HP:0009055
19 abnormality of metabolism/homeostasis 56 Very frequent (99-80%)
20 pallor 32 HP:0000980
21 microcytic anemia 32 HP:0001935
22 increased serum lactate 32 HP:0002151
23 hypochromic anemia 32 HP:0001931
24 exercise intolerance 32 HP:0003546
25 increased serum ferritin 32 HP:0003281
26 progressive muscle weakness 32 HP:0003323
27 decreased activity of cytochrome c oxidase in muscle tissue 32 HP:0003688
28 sideroblastic anemia 32 HP:0001924
29 erythroid hyperplasia 32 HP:0012132

Drugs & Therapeutics for Mitochondrial Myopathy and Sideroblastic Anemia 1

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

Genetic Tests for Mitochondrial Myopathy and Sideroblastic Anemia 1

Genetic tests related to Mitochondrial Myopathy and Sideroblastic Anemia 1:

id Genetic test Affiliating Genes
1 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 29 24 PUS1
2 Mitochondrial Myopathy and Sideroblastic Anemia 29

Anatomical Context for Mitochondrial Myopathy and Sideroblastic Anemia 1

MalaCards organs/tissues related to Mitochondrial Myopathy and Sideroblastic Anemia 1:

39
Bone, Bone Marrow, Skeletal Muscle

Publications for Mitochondrial Myopathy and Sideroblastic Anemia 1

Variations for Mitochondrial Myopathy and Sideroblastic Anemia 1

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Myopathy and Sideroblastic Anemia 1:

66
id Symbol AA change Variation ID SNP ID
1 PUS1 p.Arg144Trp VAR_021788 rs104894371

ClinVar genetic disease variations for Mitochondrial Myopathy and Sideroblastic Anemia 1:

6
id 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.574G> T (p.Glu192Ter) single nucleotide variant Pathogenic rs104894372 GRCh37 Chromosome 12, 132425950: 132425950
3 PUS1 NM_001002020.2(PUS1): c.799C> T (p.Arg267Trp) single nucleotide variant Pathogenic rs869025309 GRCh37 Chromosome 12, 132426175: 132426175
4 PUS1 NM_001002020.2(PUS1): c.633C> A (p.Tyr211Ter) single nucleotide variant Likely pathogenic rs779651314 GRCh37 Chromosome 12, 132426009: 132426009

Expression for Mitochondrial Myopathy and Sideroblastic Anemia 1

Search GEO for disease gene expression data for Mitochondrial Myopathy and Sideroblastic Anemia 1.

Pathways for Mitochondrial Myopathy and Sideroblastic Anemia 1

GO Terms for Mitochondrial Myopathy and Sideroblastic Anemia 1

Cellular components related to Mitochondrial Myopathy and Sideroblastic Anemia 1 according to GeneCards Suite gene sharing:

id 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 Mitochondrial Myopathy and Sideroblastic Anemia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 8.62 PUS1 YARS2

Sources for Mitochondrial Myopathy and Sideroblastic Anemia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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