KEGG   DISEASE: Nance-Horan syndrome
Entry
H01292                      Disease                                
Name
Nance-Horan syndrome
Description
Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Mutations in NHS gene have been identified in patients with this syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01292  Nance-Horan syndrome
Gene
NHS [HSA:4810] [KO:K24144]
Other DBs
ICD-11: LD2F.1Y
MeSH: C538336
OMIM: 302350
Reference
PMID:19414485
  Authors
Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ
  Title
X-linked cataract and Nance-Horan syndrome are allelic disorders.
  Journal
Hum Mol Genet 18:2643-55 (2009)
DOI:10.1093/hmg/ddp206
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