KEGG   DISEASE: 水腫・乳酸アシドーシスおよび鉄芽球性貧血
エントリ  
H02841                                                             
名称    
水腫・乳酸アシドーシスおよび鉄芽球性貧血
概要    
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.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C53  エネルギー代謝の先天性異常
     H02841  水腫・乳酸アシドーシスおよび鉄芽球性貧血
病因遺伝子 
LARS2 [HSA:23395] [KO:K01869]
リンク   
ICD-11: 5C53.Y
OMIM: 617021
文献    
PMID:32442335
  著者
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
  タイトル
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
  雑誌
Hum Mutat 41:1425-1434 (2020)
DOI:10.1002/humu.24050
文献    
PMID:26537577
  著者
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
  タイトル
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
  雑誌
JIMD Rep 28:49-57 (2016)
DOI:10.1007/8904_2015_515
LinkDB    

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