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H01097                      Disease                                

Cerebral palsy
Cerebral palsy 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, such as mutations in GAD1, KANK1, and four subunits of the adaptor protein complex-4 (AP-4).
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01097  Cerebral palsy
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G80-G83  Cerebral palsy and other paralytic syndromes
   G80  Cerebral palsy
    H01097  Cerebral palsy
BRITE hierarchy
Alanine, aspartate and glutamate metabolism
beta-Alanine metabolism
Taurine and hypotaurine metabolism
Butanoate metabolism
GABAergic synapse
GAD1 [HSA:2571] [KO:K01580]
KANK1 [HSA:23189]
AP4E1 [HSA:9179] [KO:K12402]
AP4M1 [HSA:23431] [KO:K12400]
AP4B1 [HSA:10717] [KO:K12401]
AP4S1 [HSA:11154] [KO:K12403]
Other DBs
Lynex CN, Carr IM, Leek JP, Achuthan R, Mitchell S, Maher ER, Woods CG, Bonthon DT, Markham AF
Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.
BMC Neurol 4:20 (2004)
Lerer I, Sagi M, Meiner V, Cohen T, Zlotogora J, Abeliovich D
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
Hum Mol Genet 14:3911-20 (2005)
Moreno-De-Luca A, Helmers SL, Mao H, Burns TG, Melton AM, Schmidt KR, Fernhoff PM, Ledbetter DH, Martin CL
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
J Med Genet 48:141-4 (2011)

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