KEGG   DISEASE: 軸索性末梢神経障害を伴う(伴わない)多発性対称性脂肪腫症
エントリ  
H02941                                                             
名称    
軸索性末梢神経障害を伴う(伴わない)多発性対称性脂肪腫症
概要    
Multiple symmetric lipomatosis (MSL) is characterized by upper-body lipomatous masses frequently associated with metabolic and neurological signs. MSL with or without axonal peripheral neuropathy is a very rare autosomal recessive form of MSL. MFN2 pathogenic variants were recently implicated in this disease. MFN2 encodes mitofusin-2, a mitochondrial fusion protein.
カテゴリ  
皮膚疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  特定の皮膚構造が関与する皮膚疾患
   真皮及び皮下組織の疾患
    皮下脂肪の疾患
     EF02  皮下脂肪の非炎症性疾患
      H02941  軸索性末梢神経障害を伴う(伴わない)多発性対称性脂肪腫症
病因遺伝子 
MFN2 [HSA:9927] [KO:K06030]
リンク   
ICD-11: EF02.1
MeSH: D008069
OMIM: 151800
文献    
PMID:30158064
  著者
Capel E, Vatier C, Cervera P, Stojkovic T, Disse E, Cottereau AS, Auclair M, Verpont MC, Mosbah H, Gourdy P, Barraud S, Miquel A, Zuchner S, Bonnefond A, Froguel P, Christin-Maitre S, Delemer B, Feve B, Laville M, Robert J, Tenenbaum F, Lascols O, Vigouroux C, Jeru I
  タイトル
MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue.
  雑誌
J Clin Lipidol 12:1420-1435 (2018)
DOI:10.1016/j.jacl.2018.07.009
文献    
PMID:26114802
  著者
Carr AS, Polke JM, Wilson J, Pelayo-Negro AL, Laura M, Nanji T, Holt J, Vaughan J, Rankin J, Sweeney MG, Blake J, Houlden H, Reilly MM
  タイトル
MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
  雑誌
J Peripher Nerv Syst 20:67-71 (2015)
DOI:10.1111/jns.12117
LinkDB    

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