KEGG   DISEASE: DEEAH 症候群
エントリ  
H02927                                                             
名称    
DEEAH 症候群
概要    
DEEAH syndrome is a novel multisystem disorder characterized by developmental delay, exocrine and endocrine insufficiency, autonomic dysfunction, and haematological anomalies. It has been reported that mutations in MADD cause this syndrome. MADD encodes the MAPK-activating protein containing a death domain that belongs to the DENN domain protein families. It has been demonstrated that MADD can act both as a Rab3 GEF and Rab3 effector and plays a role in formation and trafficking of synaptic vesicles.
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
    H02927  DEEAH 症候群
病因遺伝子 
MADD [HSA:8567] [KO:K26162]
リンク   
ICD-11: LD2F.1Y
OMIM: 619004
文献    
PMID:32761064
  著者
Schneeberger PE, Kortum F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodriguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, Gelb BD, Kurth I, Hempel M, Kutsche K
  タイトル
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
  雑誌
Brain 143:2437-2453 (2020)
DOI:10.1093/brain/awaa204
LinkDB    

» English version

DBGET integrated database retrieval system