KEGG   DISEASE: Gordon Holmes syndrome
Entry
H02144                      Disease                                
Name
Gordon Holmes syndrome;
Cerebellar ataxia and hypogonadotropic hypogonadism
Description
Gordon Holmes syndrome (GHS) is an autosomal recessive adult-onset neurodegenerative disease characterized by cognitive decline, dementia, and other clinical features such as ataxia and hypogonadotropism. Multiple loss-of-function mutations in RNF216 gene have recently been identified in patients suffering from GHS.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H02144  Gordon Holmes syndrome
Gene
RNF216 [HSA:54476] [KO:K11976]
Other DBs
ICD-11: 8A03.1Y
ICD-10: G11.8
OMIM: 212840
Reference
PMID:27995769
  Authors
Husain N, Yuan Q, Yen YC, Pletnikova O, Sally DQ, Worley P, Bichler Z, Shawn Je H
  Title
TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.
  Journal
Aging Cell 16:281-292 (2017)
DOI:10.1111/acel.12551
Reference
PMID:28972031
  Authors
Mehmood S, Hoggard N, Hadjivassiliou M
  Title
Gordon Holmes syndrome: finally genotype meets phenotype.
  Journal
Pract Neurol 17:476-478 (2017)
DOI:10.1136/practneurol-2017-001674
Reference
PMID:23656588
  Authors
Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB
  Title
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
  Journal
N Engl J Med 368:1992-2003 (2013)
DOI:10.1056/NEJMoa1215993
Reference
PMID:25841028
  Authors
Santens P, Van Damme T, Steyaert W, Willaert A, Sablonniere B, De Paepe A, Coucke PJ, Dermaut B
  Title
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.
  Journal
Neurology 84:1760-6 (2015)
DOI:10.1212/WNL.0000000000001521

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (7)   

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