KEGG   DISEASE: 痙攣性四肢脳性麻痺
エントリ  
H01097                                                             
名称    
痙攣性四肢脳性麻痺
概要    
Spastic quadriplegic cerebral palsy (CPSQ) is a heterogeneous group of neurodevelopmental brain disorders resulting in motor and posture impairments often associated with cognitive, sensorial, and behavioural disturbances. It is thought that a half of idiopathic cerebral palsy cases are caused by genetic factors.
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
  脳性麻痺
   8D20  痙性脳性麻痺
    H01097  痙攣性四肢脳性麻痺
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06541  神経細胞の細胞骨格
   H01097  痙攣性四肢脳性麻痺
ネットワーク
nt06541 Cytoskeleton in neurons
病因遺伝子 
(CPSQ1) HPDL [HSA:84842] [KO:K24788]
(CPSQ2) KANK1 [HSA:23189] [KO:K22808]
(CPSQ3) ADD3 [HSA:120] [KO:K18622]
リンク   
ICD-11: 8D20.10
MeSH: D002547
OMIM: 619026 612900 617008
文献    
PMID:32707086 (HPDL)
  著者
Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostasy K, Radelfahr F, Bevot A, Dobler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Muller AJ, Laugwitz L, Nagele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hubner CA, Deschauer M, Mayr JA, Bonnen PE, Krageloh-Mann I, Wortmann SB, Haack TB
  タイトル
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
  雑誌
Am J Hum Genet 107:364-373 (2020)
DOI:10.1016/j.ajhg.2020.06.015
文献    
PMID:16301218 (KANK1)
  著者
Lerer I, Sagi M, Meiner V, Cohen T, Zlotogora J, Abeliovich D
  タイトル
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
  雑誌
Hum Mol Genet 14:3911-20 (2005)
DOI:10.1093/hmg/ddi415
文献    
PMID:23836506 (ADD3)
  著者
Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Green S, Woltjer RL, Mooney C, Kretzschmar D, Paisan-Ruiz C, Houlden H
  タイトル
Mutations in gamma adducin are associated with inherited cerebral palsy.
  雑誌
Ann Neurol 74:805-14 (2013)
DOI:10.1002/ana.23971
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