KEGG   DISEASE: Hydrops, lactic acidosis, and sideroblastic anemia
Entry
H02841                      Disease                                
Name
Hydrops, lactic acidosis, and sideroblastic anemia
Description
Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is a severe multisystem metabolic disorder caused by mutations in LARS2. LARS2 encodes mitochondrial leucyl-tRNA synthetase, which is responsible for the ATP-dependent conjugation of leucine to its cognate tRNA.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H02841  Hydrops, lactic acidosis, and sideroblastic anemia
Gene
LARS2 [HSA:23395] [KO:K01869]
Other DBs
ICD-11: 5C53.Y
OMIM: 617021
Reference
PMID:32442335
  Authors
Riley LG, Rudinger-Thirion J, Frugier M, Wilson M, Luig M, Alahakoon TI, Nixon CY, Kirk EP, Roscioli T, Lunke S, Stark Z, Wierenga KJ, Palle S, Walsh M, Higgs E, Arbuckle S, Thirukeswaran S, Compton AG, Thorburn DR, Christodoulou J
  Title
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
  Journal
Hum Mutat 41:1425-1434 (2020)
DOI:10.1002/humu.24050
Reference
PMID:26537577
  Authors
Riley LG, Rudinger-Thirion J, Schmitz-Abe K, Thorburn DR, Davis RL, Teo J, Arbuckle S, Cooper ST, Campagna DR, Frugier M, Markianos K, Sue CM, Fleming MD, Christodoulou J
  Title
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
  Journal
JIMD Rep 28:49-57 (2016)
DOI:10.1007/8904_2015_515
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