KEGG   DISEASE: Horizontal gaze palsy with progressive scoliosis
Entry
H02450                      Disease                                
Name
Horizontal gaze palsy with progressive scoliosis
Description
Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterized by congenital absence of horizontal conjugate eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations in the axon guidance molecule ROBO3. Recently, it has been reported that mutations in DCC cause the syndrome with combined features of agenesis of the corpus callosum and HGPPS.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Strabismus or ocular motility disorders
   9C83  Disorders of binocular movement
    H02450  Horizontal gaze palsy with progressive scoliosis
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06541  Cytoskeleton in neurons
   H02450  Horizontal gaze palsy with progressive scoliosis
  nt06546  IgSF CAM signaling
   H02450  Horizontal gaze palsy with progressive scoliosis
Pathway
hsa04360  Axon guidance
hsa04517  IGSF CAM signaling
Network
nt06541 Cytoskeleton in neurons
nt06546 IgSF CAM signaling
Gene
(HGPPS1) ROBO3 [HSA:64221] [KO:K06755]
(HGPPS2) DCC [HSA:1630] [KO:K06765]
Other DBs
ICD-11: 9C83.00
MeSH: C564593
OMIM: 607313 617542
Reference
PMID:16525029
  Authors
Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC
  Title
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.
  Journal
J Med Genet 43:e11 (2006)
DOI:10.1136/jmg.2005.035436
Reference
PMID:28250456
  Authors
Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW
  Title
Biallelic mutations in human DCC cause developmental split-brain syndrome.
  Journal
Nat Genet 49:606-612 (2017)
DOI:10.1038/ng.3804
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