KEGG DISEASE: Global developmental delay with speech and behavioral abnormalities

KEGG

DISEASE: Global developmental delay with speech and behavioral abnormalities

Entry

H02784                      Disease

Name

Global developmental delay with speech and behavioral abnormalities

Description

Global developmental delay with speech and behavioral abnormalities (GDSBA) is a rare genetic disorder characterized by developmental delay/intellectual disability and a spectrum of neurobehavioral phenotypes including autism and ADHD. It has been reported that mutations in TNRC6B cause this disease. TNRC6B encodes a protein important for RNA silencing.

Category

Mental and behavioural disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A00  Disorders of intellectual development
    H02784  Global developmental delay with speech and behavioral abnormalities

Gene

TNRC6B [HSA:23112] [KO:K18412]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Eising E, Carrion-Castillo A, Vino A, Strand EA, Jakielski KJ, Scerri TS, Hildebrand MS, Webster R, Ma A, Mazoyer B, Francks C, Bahlo M, Scheffer IE, Morgan AT, Shriberg LD, Fisher SE

Title

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

Journal

Mol Psychiatry 24:1065-1078 (2019)
DOI:10.1038/s41380-018-0020-x

Reference

Authors

Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M

Title

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.

Journal

J Med Genet 57:717-724 (2020)
DOI:10.1136/jmedgenet-2019-106470

LinkDB

» Japanese version

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