KEGG DISEASE: Young-Simpson syndrome

DISEASE: Young-Simpson syndrome

Entry

H01793                      Disease

Name

Young-Simpson syndrome;
Say-Barber-Biesecker-Young-Simpson syndrome;
Say-Barber-Biesecker variant of Ohdo syndrome

Supergrp

Blepharophimosis-mental retardation syndrome [DS:H01795]

Description

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also referred to as the Say-Barber-Biesecker variant of Ohdo syndrome, is a rare multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals with SBBYSS also have thyroid abnormalities and cleft palate. In 1986, Ohdo described two siblings and their cousin with blepharophimosis, ptosis, congenital heart defects, intellectual disability, and hypoplastic teeth. Subsequently, the Young-Simpson syndrome was described. Later the Young-Simpson syndrome was renamed the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome. SBBYSS and genitopatellar syndrome (GPS) [DS:H01794] are clinically similar disorders with some overlapping features. They were found to be caused by de novo truncating sequence variants in the KAT6B (histone acetyltransferase) gene, strongly suggesting that they are allelic disorders.

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
    H01793  Young-Simpson syndrome

Gene

KAT6B [HSA:23522] [KO:K11306]

Other DBs

ICD-11:

LD2F.1Y

MeSH:

C536717

OMIM:

603736

Reference

PMID:23236640

Authors

Campeau PM, Lee BH

Title

KAT6B-Related Disorders

Journal

GeneReviews (1993)

Reference

PMID:22715153

Authors

Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH

Title

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Journal

Hum Mutat 33:1520-5 (2012)
DOI:10.1002/humu.22141

Reference

PMID:27452416

Authors

Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T

Title

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.

Journal

Clin Genet 91:339-343 (2017)
DOI:10.1111/cge.12840

Reference

PMID:25424711

Authors

Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destree A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF, Smith J, Clayton-Smith J

Title

Further delineation of the KAT6B molecular and phenotypic spectrum.

Journal

Eur J Hum Genet 23:1165-70 (2015)
DOI:10.1038/ejhg.2014.248

LinkDB

» Japanese version

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