Mitochondrial myopathy and sideroblastic anemia

Mitochondrial 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.



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Narrow down the case reports



Total: 7 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(65.0%)		 7726239
 Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome.
Inbal A, Avissar N, Shaklai M, Kuritzky A, Schejter A, Ben-David E, Shanske S, Garty BZ.
Am J Med Genet. 1995;55(3):372-8.
High palate Micrognathia Distichiasis
rs104894371
Acidosis, Lactic Adult Cytochromes DNA Mutational Analysis DNA, Mitochondrial Females Homo sapiens Intellectual Disability Male Mitochondria, Muscle Mitochondrial Myopathies Syndrome
2
(17.5%)		 23918765
(3884767)
 A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
Shahni R, Wedatilake Y, Cleary MA, Lindley KJ, Sibson KR, Rahman S.
Am J Med Genet A. 2013;161A(9):2334-8.
Anemia Myopathy
PUS1 YARS2
c|SUB|C|156|G;RS#:267607180 p|SUB|F|52|L;RS#:267607180 rs267607180
Acidosis, Lactic Bone Marrow DNA Mutational Analysis Genotype Homo sapiens Infant Male Mitochondrial Myopathies Mutation Phenotype Syndrome Tyrosine-tRNA Ligase
2
(17.5%)		 15971356
 Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.
Zeharia A, Fischel-Ghodsian N, Casas K, Bykhocskaya Y, Tamari H, Lev D, Mimouni M, Lerman-Sagie T.
J Child Neurol. 2005;20(5):449-52.
Lactic acidosis Myopathy
PUS1
c|SUB|C|656|T
Acidosis, Lactic Adult Homo sapiens Hydro-Lyases Jews Male Mitochondrial Myopathies Mutation Persia Syndrome
2
(17.5%)		 14981724
 Mitochondrial myopathy and sideroblastic anemia.
Casas KA, Fischel-Ghodsian N.
Am J Med Genet A. 2004;125A(2):201-4.
Exercise intolerance
rs104894371
Adult Child DNA, Mitochondrial Females Homo sapiens Iran Male Mitochondrial Myopathies Muscle Tissue Nuclear Family
5
(4.0%)		 25037980
(4253070)
 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.
Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, Chen LC, Schmitt ES, Niu Z, Erana R, Hunter JV, Graham BH, Wong LJ, Scaglia F.
Mol Genet Metab. 2014;113(3):207-12.
Failure to thrive
MT-ATP6 PUS1 YARS2
m|SUB|G|8969|A;RS#:794726857(Expired) p|SUB|S|148|N;RS#:794726857(Expired) rs794726857
Acidosis, Lactic Amino Acid Sequence Cell Respiration Child Cultured Cells DNA Mutational Analysis DNA, Mitochondrial Genetic Association Studies Homo sapiens Male Mitochondrial Myopathies Mitochondrial Proton-Translocating ATPases Molecular Sequence Data Point Mutation
5
(4.0%)		 24430573
 A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N.
J Hum Genet. 2014;59(4):229-32.
Anemia
YARS2
c|SUB|A|1303|G;RS#:587777215 p|SUB|S|435|G;RS#:587777215 rs587777215
Acidosis, Lactic Adult Child Child, Preschool Fatal Outcome Females Homo sapiens Homozygote Infant Infant, Newborn Male Mutation Myopathy Tyrosine-tRNA Ligase Young Adult
5
(4.0%)		 15103716
 Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33.
Casas K, Bykhovskaya Y, Mengesha E, Wang D, Yang H, Taylor K, Inbal A, Fischel-Ghodsian N.
Am J Med Genet A. 2004;127A(1):44-9.
Anemia
EP400 GALNT9 MMP17 PUS1 SFSWAP ULK1
Adult Chromosome Mapping Chromosomes, Human, Pair 12 DNA Fingerprinting Females Homo sapiens Male Middle Aged Mitochondrial Myopathies Short Tandem Repeat Single Nucleotide Polymorphism
        

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000218 High palate Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001903 Anemia Very frequent (99-80%)
HP:0001939 Abnormality of metabolism/homeostasis Very frequent (99-80%)
HP:0003128 Lactic acidosis Very frequent (99-80%)
HP:0003198 Myopathy Very frequent (99-80%)
HP:0003457 EMG abnormality Very frequent (99-80%)
HP:0003737 Mitochondrial myopathy Very frequent (99-80%)
HP:0009055 Generalized limb muscle atrophy Very frequent (99-80%)
HP:0009743 Distichiasis Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000501 Glaucoma Frequent (79-30%)
HP:0000823 Delayed puberty Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0003128 Lactic acidosis 1
HP:0003198 Myopathy 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
PUS1 pseudouridine synthase 1 80324
YARS2 tyrosyl-tRNA synthetase 2 51067