KEGG   DISEASE: White-Kernohan syndrome
Entry
H02560                      Disease                                
Name
White-Kernohan syndrome
  Supergrp
Disorders of nucleotide excision repair [DS:H00403]
Description
White-Kernohan syndrome is a neurodevelopmental syndrome characterized by intellectual disability and hypotonia with dysmorphic facial features. It has been reported that mutations in DDB1 cause this disease. DDB1 is part of the CUL4-DDB1 ubiquitin E3 ligase complex, which is essential for DNA repair, chromatin remodeling, DNA replication, and signal transduction.
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
   H02560  White-Kernohan syndrome
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06502  Nucleotide excision repair
   H02560  White-Kernohan syndrome
Pathway
hsa03420  Nucleotide excision repair
Network
nt06502 Nucleotide excision repair
Gene
DDB1 [HSA:1642] [KO:K10610]
Other DBs
ICD-11: LD90.Y
OMIM: 619426
Reference
PMID:33743206
  Authors
White SM, Bhoj E, Nellaker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R, Koch-Hogrebe M, Ounap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ, Nezarati MM, Kernohan KD
  Title
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
  Journal
Am J Hum Genet 108:749-756 (2021)
DOI:10.1016/j.ajhg.2021.03.007
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