KEGG   DISEASE: CASGID syndrome
Entry
H02847                      Disease                                
Name
CASGID syndrome;
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
Description
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (CASGID) is an inborn error of metabolism caused by a glutaminase (GLS) hyperactivity variant, the enzyme converting glutamine into glutamate.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H02847  CASGID syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06544  Neuroactive ligand signaling
   H02847  CASGID syndrome
Network
nt06544 Neuroactive ligand signaling
Gene
GLS [HSA:2744] [KO:K01425]
Other DBs
ICD-11: 5C50.Y
OMIM: 618339
Reference
PMID:30239721
  Authors
Rumping L, Tessadori F, Pouwels PJW, Vringer E, Wijnen JP, Bhogal AA, Savelberg SMC, Duran KJ, Bakkers MJG, Ramos RJJ, Schellekens PAW, Kroes HY, Klomp DWJ, Black GCM, Taylor RL, Bakkers JPW, Prinsen HCMT, van der Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJT, Houwen RHJ, van Haaften G, Verhoeven-Duif NM, Jans JJM, van Hasselt PM
  Title
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
  Journal
Hum Mol Genet 28:96-104 (2019)
DOI:10.1093/hmg/ddy330
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