KEGG   DISEASE: Siddiqi 症候群
エントリ  
H02797                                                             
名称    
Siddiqi 症候群
概要    
Siddiqi syndrome (SIDDIS) is a novel autosomal recessive deafness-dystonia syndrome. It has been reported that mutations in FITM2 cause this syndrome. FITM2 is required for normal fat storage and metabolism due to its involvement in partitioning triglycerides into lipid droplets.
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
   LD2H  症候群性遺伝性難聴
    H02797  Siddiqi 症候群
病因遺伝子 
FITM2 [HSA:128486] [KO:K28100]
リンク   
ICD-11: LD2H.Y
OMIM: 618635
文献    
  著者
Riedhammer KM, Leszinski GS, Andres S, Strobl-Wildemann G, Wagner M
  タイトル
First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.
  雑誌
Mov Disord 33:1665-1666 (2018)
DOI:10.1002/mds.27481
文献    
  著者
Shakir A, Wadley AF, Purcarin G, Wierenga KJ
  タイトル
The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2.
  雑誌
Clin Case Rep 6:1815-1817 (2018)
DOI:10.1002/ccr3.1719
LinkDB    

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