KEGG   DISEASE: Luo-Schoch-Yamamoto syndrome
Entry
H02587                      Disease                                
Name
Luo-Schoch-Yamamoto syndrome
Description
Luo-Schoch-Yamamoto syndrome (LUSYAM) is a novel neurodevelopmental disorder caused by mutations in RNF2. LUSYAM is characterized by global developmental delay, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. RNF2 encodes a catalytic subunit of the polycomb repressive complex 1 (PRC1).
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
   H02587  Luo-Schoch-Yamamoto syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H02587  Luo-Schoch-Yamamoto syndrome
Network
nt06523 Epigenetic regulation by Polycomb complexes
Gene
RNF2 [HSA:6045] [KO:K10695]
Other DBs
ICD-11: LD90.Y
OMIM: 619460
Reference
PMID:33864376
  Authors
Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien JM, Stong N, Keren B, Mignot C, Ravelli C, Bellen HJ, Wangler MF, Shashi V, Yamamoto S
  Title
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
  Journal
Hum Mol Genet 30:1283-1292 (2021)
DOI:10.1093/hmg/ddab110
LinkDB

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