KEGG   DISEASE: Carey‐Fineman‐Ziter 症候群
エントリ  
H01908                                                             
名称    
Carey‐Fineman‐Ziter 症候群
概要    
Carey-Fineman-Ziter syndrome (CFZS) is a rare multiple congenital anomalies syndrome defined by a combination of Pierre Robin syndrome and Moebius syndrome, associated with hypotonia and various other malformations. Pierre Robin syndrome is characterized by a triad of micrognathia, glossoptosis and a U-shaped cleft palate. Moebius syndrome is characterized by congenital palsy of the 6th and 7th cranial nerves. It has been reported that autosomal recessive mutations in MYMK cause CFZS. Myomaker, encoded by MYMK, is expressed on the cell surface of myoblasts during fusion. Fusion of myoblasts is essential for the formation of multi-nucleated muscle fibres.
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
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H01908  Carey‐Fineman‐Ziter 症候群
病因遺伝子 
(CFZS1) MYMK [HSA:389827] [KO:K24577]
(CFZS2) MYMX [HSA:101929726] [KO:K24578]
コメント  
See also H01840 Moebius syndrome.
リンク   
ICD-11: LD2F.1Y
ICD-10: Q87.0
MeSH: C536102
OMIM: 254940 619941
文献    
  著者
Verloes A, Bitoun P, Heuskin A, Amrom D, van de Broeck H, Nikkel SM, Chudley AE, Prasad AN, Rusu C, Covic M, Toutain A, Moraine C, Parisi MA, Patton M, Martin JJ, Van Thienen MN
  タイトル
Mobius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.
  雑誌
Am J Med Genet A 127A:277-87 (2004)
DOI:10.1002/ajmg.a.20687
文献    
  著者
Kam K, McKay M, MacLean J, Witmans M, Spier S, Mitchell I
  タイトル
Surgical versus nonsurgical interventions to relieve upper airway obstruction in children with Pierre Robin sequence.
  雑誌
Can Respir J 22:171-5 (2015)
DOI:10.1155/2015/798076
文献    
PMID:28681861 (CFZS1)
  著者
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bonnemann CG, Olson EN, Carey JC, Robertson SP, Manoli I, Engle EC
  タイトル
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
  雑誌
Nat Commun 8:16077 (2017)
DOI:10.1038/ncomms16077
文献    
PMID:35642635 (CFZS2)
  著者
Ramirez-Martinez A, Zhang Y, van den Boogaard MJ, McAnally JR, Rodriguez-Caycedo C, Chai AC, Chemello F, Massink MP, Cuppen I, Elferink MG, van Es RJ, Janssen NG, Walraven-van Oijen LP, Liu N, Bassel-Duby R, van Jaarsveld RH, Olson EN
  タイトル
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.
  雑誌
J Clin Invest 132:159002 (2022)
DOI:10.1172/JCI159002
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