KEGG   DISEASE: Garg-Mishra 早老症候群
エントリ  
H02768                                                             
名称    
Garg-Mishra 早老症候群
概要    
Garg-Mishra progeroid syndrome (GMPGS) is an autosomal recessive form of progeria, characterized by severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy. It has been reported that mutations in TOMM7 cause this syndrome. TOMM7 encodes a translocase in the outer mitochondrial membrane. The TOMM complex makes up the outer membrane pore, which is responsible for importing many preproteins into the mitochondria.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD2B  主な特徴として早老性外観を伴う症候群
    H02768  Garg-Mishra 早老症候群
病因遺伝子 
TOMM7 [HSA:54543] [KO:K17771]
リンク   
ICD-11: LD2B
OMIM: 620601
文献    
  著者
Garg A, Keng WT, Chen Z, Sathe AA, Xing C, Kailasam PD, Shao Y, Lesner NP, Llamas CB, Agarwal AK, Mishra P
  タイトル
Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant.
  雑誌
J Clin Invest 132:156864 (2022)
DOI:10.1172/JCI156864
文献    
  著者
Young C, Batkovskyte D, Kitamura M, Shvedova M, Mihara Y, Akiba J, Zhou W, Hammarsjo A, Nishimura G, Yatsuga S, Grigelioniene G, Kobayashi T
  タイトル
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.
  雑誌
HGG Adv 4:100148 (2023)
DOI:10.1016/j.xhgg.2022.100148
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