KEGG   DISEASE: ROSAH 症候群
エントリ  
H02482                                                             
名称    
ROSAH 症候群
概要    
ROSAH syndrome is an autosomal dominant systemic disorder characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. It has been reported that mutations in ALPK1 cause ROSAH syndrome.
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
    H02482  ROSAH 症候群
病因遺伝子 
ALPK1 [HSA:80216] [KO:K08868]
リンク   
ICD-11: LD2F.1Y
OMIM: 614979
文献    
  著者
Tantravahi SK, Williams LB, Digre KB, Creel DJ, Smock KJ, DeAngelis MM, Clayton FC, Vitale AT, Rodgers GM
  タイトル
An inherited disorder with splenomegaly, cytopenias, and vision loss.
  雑誌
Am J Med Genet A 158A:475-81 (2012)
DOI:10.1002/ajmg.a.34437
文献    
  著者
Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM
  タイトル
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
  雑誌
Genet Med 21:2103-2115 (2019)
DOI:10.1038/s41436-019-0476-3
LinkDB    

» English version

DBGET integrated database retrieval system