KEGG   DISEASE: Webb-Dattani syndrome
Entry
H01797                      Disease                                
Name
Webb-Dattani syndrome;
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome
Description
Webb-Dattani syndrome is an autosomal recessive disorder characterized by secondary (post-natal) microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment, and abnormalities of the kidneys and urinary tract. A homozygous frameshift mutation in the basic HLH transcription factor ARNT2 has been revealed in affected individuals.
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
    H01797  Webb-Dattani syndrome
Gene
ARNT2 [HSA:9915] [KO:K15589]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
OMIM: 615926
Reference
  Authors
Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT
  Title
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
  Journal
Brain 136:3096-105 (2013)
DOI:10.1093/brain/awt218
LinkDB

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