KEGG   DISEASE: Li-Campeau syndrome
Entry
H02712                      Disease                                
Name
Li-Campeau syndrome
Description
Li-Campeau syndrome (LICAS) is a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Mutations in UBR7 cause this disease. UBR7 is an E3 ligase protein with recognizable UBR-box and PHD domains. It has been suggested UBR7 is a potential negative regulator of the N-degron N-end rule pathway.
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
   H02712  Li-Campeau syndrome
Gene
UBR7 [HSA:55148] [KO:K11979]
Other DBs
ICD-11: LD90.Y
ICD-10: Q87.8
OMIM: 619189
Reference
PMID:33340455
  Authors
Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PM
  Title
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
  Journal
Am J Hum Genet 108:134-147 (2021)
DOI:10.1016/j.ajhg.2020.11.018
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