KEGG   DISEASE: 痙性対麻痺・精神運動発達遅滞・てんかん症候群
エントリ  
H02293                                                             
名称    
痙性対麻痺・精神運動発達遅滞・てんかん症候群
概要    
Spastic paraplegia-psychomotor retardation-seizures syndrome (SPPRS) is an autosomal recessive neurodevelopmental syndrome caused by loss-of-function mutations in HACE1. HACE1 is an E3 ubiquitin ligase that regulates the activity of GTPases, including Rac1 and members of the Rab family.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  外傷を除く脊髄疾患
   8B44  変性性脊髄性疾患
    H02293  痙性対麻痺・精神運動発達遅滞・てんかん症候群
病因遺伝子 
(SPPRS) HACE1 [HSA:57531] [KO:K12166]
リンク   
ICD-11: 8B44.01
OMIM: 616756
文献    
PMID:26437029
  著者
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME
  タイトル
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
  雑誌
Nat Genet 47:1363-9 (2015)
DOI:10.1038/ng.3410
文献    
PMID:26424145
  著者
Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT
  タイトル
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
  雑誌
J Med Genet 52:797-803 (2015)
DOI:10.1136/jmedgenet-2015-103344
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