H01797 | |
H number | H01797 |
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 |
Network | - |
Gene | ARNT2 [HSA:9915] [KO:K15589] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 OMIM: 615926 |
Reference | PMID:24022475 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 |