KEGG   DISEASE: Fontaine 早老症候群
エントリ  
H02480                                                             
名称    
Fontaine 早老症候群
  下位グループ
Gorlin-Chaudhry-Moss 症候群
Fontaine-Farriaux 症候群
概要    
Fontaine progeroid syndrome (FPS) is a rare genetic disorder characterized by early aging, bone dysplasia, characteristic face, and early demise. Mutations in SLC25A24, that encodes for calcium-binding mitochondrial carrier protein, cause FPS. Formerly, FPS was separated into two syndromes, Gorlin-Chaudhry-Moss syndrome and Fontaine-Farriaux syndrome. Because they share similar clinical manifestations and have common genetic basis, it has been proposed to be integrated into a single disorder.
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
    H02480  Fontaine 早老症候群
病因遺伝子 
SLC25A24 [HSA:29957] [KO:K14684]
リンク   
ICD-11: LD2B
MeSH: C567360
OMIM: 612289
文献    
  著者
Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmuller J, Netzer C, Thiele H, Nurnberg P, Yigit G, Jager M, Hecht J, Kruger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U
  タイトル
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
  雑誌
Am J Hum Genet 101:833-843 (2017)
DOI:10.1016/j.ajhg.2017.09.016
文献    
  著者
Writzl K, Maver A, Kovacic L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radovic S, Thauvin-Robinet C, Peterlin B, Del Arco A, Hennekam RC
  タイトル
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.
  雑誌
Am J Hum Genet 101:844-855 (2017)
DOI:10.1016/j.ajhg.2017.09.017
文献    
  著者
Ryu J, Ko JM, Shin CH
  タイトル
A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.
  雑誌
BMC Med Genet 20:188 (2019)
DOI:10.1186/s12881-019-0921-9
LinkDB    

» English version

DBGET integrated database retrieval system