KEGG   DISEASE: Khan-Khan-Katsanis syndrome
Entry
H02707                      Disease                                
Name
Khan-Khan-Katsanis syndrome
Description
Khan-Khan-Katsanis syndrome (3KS) is a neurodevelopmental disorder with microcephaly. NCAPG2 encodes a member of the condensin II complex, necessary for the condensation of chromosomes prior to cell division.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02707  Khan-Khan-Katsanis syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06512  Chromosome cohesion and segregation
   H02707  Khan-Khan-Katsanis syndrome
Network
nt06512 Chromosome cohesion and segregation
Gene
NCAPG2 [HSA:54892] [KO:K11492]
Other DBs
ICD-11: LD20.2
ICD-10: Q02
OMIM: 618460
Reference
PMID:30609410
  Authors
Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM, Davis EE, Katsanis N
  Title
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
  Journal
Am J Hum Genet 104:94-111 (2019)
DOI:10.1016/j.ajhg.2018.11.017
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