H01919 | |
H number | H01919 |
Name | Proud syndrome |
Description | Proud syndrome is a syndromic X-linked mental retardation, characterized by agenesis of the corpus callosum, and abnormal genitalia. ARX is considered to have an important role in neuronal proliferation, interneuronal migration and differentiation in the embryonic brain, and also in the differentiation of the testis. Phenotypes associated with ARX mutations include both brain malformation and non-malformation syndromes. Premature termination mutations and missense mutations in the homeobox domain cause malformation syndromes such as Proud syndrome. |
Category | Congenital malformation |
Network | - |
Gene | ARX [HSA:170302] [KO:K09452] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | See also H00658 Syndromic X-linked mental retardation. |
Other DBs | ICD-11: LD20.Y ICD-10: Q87.8 MeSH: C563110 OMIM: 300004 |
Reference | PMID:18823727 AUTHORS Shinozaki Y, Osawa M, Sakuma H, Komaki H, Nakagawa E, Sugai K, Sasaki M, Goto Y TITLE Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms. JOURNAL Brain Dev 31:469-72 (2009) DOI:10.1016/j.braindev.2008.08.006 PMID:14722918 AUTHORS Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB TITLE Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. JOURNAL Hum Mutat 23:147-59 (2004) DOI:10.1002/humu.10310 |