KEGG   DISEASE: Brain malformations and seizures by impaired function of TRiC
Entry
H02843                      Disease                                
Name
Brain malformations and seizures by impaired function of TRiC
  Subgroup
Intellectual developmental disorder with polymicrogyria and seizures (IDDPMGS)
Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination (NEDSVH)
Description
Brain malformations and seizures by impaired function of TRiC is a novel group of disorders in the development of the central nervous system. They are caused by mutations in genes that encode subunits of TRiC. TRiC is a large barrel-shaped oligomeric complex that plays an essential role in protein folding.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02843  Brain malformations and seizures by impaired function of TRiC
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06510  Telomere length regulation
   H02843  Brain malformations and seizures by impaired function of TRiC
Network
nt06510 Telomere length regulation
Gene
(IDDPMGS) TCP1 [HSA:6950] [KO:K09493]
(NEDSVH) CCT3 [HSA:7203] [KO:K09495]
Other DBs
ICD-11: LD90.Y
OMIM: 621021 621034
Reference
  Authors
Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, Lee TT, Flex E, Hentschel A, Innes AM, Zheng B, Julia Suh DS, Knopp C, Lausberg E, Krause J, Zhang X, Trapane P, Carroll R, McClatchey M, Fry AE, Wang L, Giesselmann S, Hoang H, Baldridge D, Silverman GA, Radio FC, Bertini E, Ciolfi A, Blood KA, de Sainte Agathe JM, Charles P, Bergant G, Cuturilo G, Peterlin B, Diderich K, Streff H, Robak L, Oegema R, van Binsbergen E, Herriges J, Saunders CJ, Maier A, Wolking S, Weber Y, Lochmuller H, Meyer S, Aleman A, Polavarapu K, Nicolas G, Goldenberg A, Guyant L, Pope K, Hehmeyer KN, Monaghan KG, Quade A, Smol T, Caumes R, Duerinckx S, Depondt C, Van Paesschen W, Rieubland C, Poloni C, Guipponi M, Arcioni S, Meuwissen M, Jansen AC, Rosenblum J, Haack TB, Bertrand M, Gerstner L, Magg J, Riess O, Schulz JB, Wagner N, Wiesmann M, Weis J, Eggermann T, Begemann M, Roos A, Hausler M, Schedl T, Tartaglia M, Bremer J, Pak SC, Frydman J, Elbracht M, Kurth I
  Title
Brain malformations and seizures by impaired chaperonin function of TRiC.
  Journal
Science 386:516-525 (2024)
DOI:10.1126/science.adp8721
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