KEGG   DISEASE: Kohlschutter-Tonz syndrome
Entry
H02058                      Disease                                
Name
Kohlschutter-Tonz syndrome
Description
Kohlschutter-Tonz syndrome (KTS) is an autosomal recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. It has been reported that KTS is caused by mutations in ROGDI, that plays an important role in neuronal development as well as amelogenesis.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H02058  Kohlschutter-Tonz syndrome
Gene
ROGDI [HSA:79641] [KO:K24628]
Other DBs
ICD-11: LD27.0Y
ICD-10: G40.8
OMIM: 226750
Reference
PMID:22424600
  Authors
Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tonz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschutter A, Trajanoski Z, Zschocke J
  Title
Mutations in ROGDI Cause Kohlschutter-Tonz Syndrome.
  Journal
Am J Hum Genet 90:701-7 (2012)
DOI:10.1016/j.ajhg.2012.02.012
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