Young Simpson syndrome

Sbbyss; Bmrs Sbbys not included

Also Known As:

Blepharophimosis and Mental Retardation Syndrome, Say-Barber-Biesecker-Young-Simpson Type; Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber-Biesecker-Young-Simpson Type; Mental retardation unusual facies hypothyroidism; Ohdo Syndrome, SBBYS Variant; Ohdo Syndrome, Say-Barber-Biesecker Variant; Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant; SBBYS Variant of Ohdo Syndrome; Say-Barber-Biesecker-Young-Simpson Syndrome; Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome; Young-Simpson Syndrome

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Atrial Heart Septal Defects (Atrial Septal Defect)

Experts

1.	Enomoto, Yumi: 1 article (05/2022)
2.	Goto, Tomohide: 1 article (05/2022)
3.	Ikeda, Azusa: 1 article (05/2022)
4.	Kumaki, Tatsuro: 1 article (05/2022)
5.	Kurosawa, Kenji: 1 article (05/2022)
6.	Murakami, Hiroaki: 1 article (05/2022)
7.	Nishimura, Naoto: 1 article (05/2022)
8.	Aoki, Mikihiro: 1 article (01/2019)
9.	Dateki, Sumito: 1 article (01/2019)
10.	Hamaguchi, Yo: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Young Simpson syndrome:

1.	Lysine AcetyltransferasesIBA 05/01/2022 - "Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS) are caused by variants of lysine acetyltransferase 6B (KAT6B). " 01/01/2019 - "Heterozygous pathogenic variants in the KAT6B gene, which encodes lysine acetyltransferase 6B, have been identified in patients with congenital rare disorders, including genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome. " 10/01/2015 - "Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) are two distinct clinically overlapping syndromes caused by de novo heterozygous truncating mutations in the KAT6B gene encoding lysine acetyltransferase 6B, a part of the histone H3 acetyltransferase complex. "
2.	Histone Acetyltransferases (Histone Acetyltransferase)IBA 04/01/2013 - "De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome." 11/01/2012 - "Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct mutations in the histone acetyltransferase KAT6B (a.k.a. "
3.	Anesthetics (Anesthetic Agents)IBA 11/01/2002 - "[Anesthetic management of a patient with Young-Simpson syndrome]." 02/01/2009 - "Anesthetic managements for repair of atrial septal defect in a patient with Young-Simpson Syndrome: A case report."
4.	Histones (Histone)IBA 10/01/2015 - "Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) are two distinct clinically overlapping syndromes caused by de novo heterozygous truncating mutations in the KAT6B gene encoding lysine acetyltransferase 6B, a part of the histone H3 acetyltransferase complex. "
5.	AcetyltransferasesIBA 10/01/2015 - "Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) are two distinct clinically overlapping syndromes caused by de novo heterozygous truncating mutations in the KAT6B gene encoding lysine acetyltransferase 6B, a part of the histone H3 acetyltransferase complex. "