KEGG DISEASE: Proud syndrome

KEGG

DISEASE: Proud syndrome

Entry

H01919                      Disease

Name

Proud syndrome

Supergrp

X-linked syndromic intellectual developmental disorder [DS:H00658]

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H01919  Proud syndrome

Gene

ARX [HSA:170302] [KO:K09452]

Comment

See also H00658 Syndromic X-linked mental retardation.

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

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

Reference

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

LinkDB

» Japanese version

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