Schaaf-Yang syndrome

autosomal dominant multisystem disorder characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities and associated with paternal mutations in the MAGEL2 gene.

Also Known As:

Networked: 19 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hypopituitarism (Sheehan's Syndrome)
2.	Hypothyroidism
3.	Hyperprolactinemia
4.	Prader-Willi Syndrome (Syndrome, Prader-Willi)
5.	Melanoma (Melanoma, Malignant)

Experts

1.	Wevrick, Rachel: 3 articles (01/2021 - 01/2016)
2.	Sanderson, Matthea R: 2 articles (01/2021 - 01/2020)
3.	Schaaf, Christian P: 2 articles (07/2020 - 11/2019)
4.	Bischof, Jocelyn M: 2 articles (01/2020 - 01/2016)
5.	Boal, Rachel L: 1 article (01/2022)
6.	Boot, Christopher: 1 article (01/2022)
7.	Cheetham, Tim D: 1 article (01/2022)
8.	Hara, Shigeto: 1 article (01/2022)
9.	Hughes, James: 1 article (01/2022)
10.	Ikeda, Yuka: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Schaaf-Yang syndrome:

1.	Growth Hormone (Somatotropin)IBA 06/21/2023 - "Schaaf-Yang syndrome: Clinical phenotype and effects of 4 years of growth hormone treatment." 01/01/2021 - "A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome." 12/01/2019 - "The heterozygous p.Q666fs*47 mutation in the maternally imprinted MAGEL2 gene, previously described in multiple patients with SHFYNG, was identified in patients 1 to 4, all of whom manifested growth hormone deficiency and variable SHFYNG features, including dysmorphism, developmental delay, sleep apnea, and visual problems. " 07/01/2018 - "The current study presented the case of a patient with SYS and a novel de novo truncating mutation of MAGEL2 and phenotypic characteristics typical of this Prader-Willi-like syndrome and also including partial hypopituitarism, hypothyroidism, growth hormone deficiency, and hyperprolactinemia. " 01/01/2018 - "Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2020 - "Protein truncating mutations in MAGEL2 cause Schaaf-Yang syndrome, and MAGEL2 is one of a small set of genes deleted in Prader-Willi syndrome. " 07/01/2020 - "Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. " 05/01/2022 - "Late-Onset Pyloric Stenosis and Intussusception With Final Diagnosis of Food Proteins' Hypersensitivity in Schaaf-Yang Syndrome: A Case Report." 01/01/2021 - "The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism." 01/01/2021 - "MAGEL2 encodes the L2 member of the melanoma-associated antigen gene (MAGE) protein family, truncating mutations of which can cause Schaaf-Yang syndrome, an autism spectrum disorder. "
3.	AntigensIBA 01/01/2022 - "Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2)." 06/18/2021 - "The Schaaf-Yang syndrome (SYS) is an autosomal dominant multi-system genetic disease caused by melanoma antigen L2 (MAGEL2) gene mutations imprinted by mothers and expressed by fathers on the 15q11-15q13 chromosomes in the critical region of Prader-Willi. " 01/01/2021 - "MAGEL2 encodes the L2 member of the melanoma-associated antigen gene (MAGE) protein family, truncating mutations of which can cause Schaaf-Yang syndrome, an autism spectrum disorder. " 01/01/2022 - "Schaaf-Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein-coding genes within the Prader-Willi syndrome (PWS) critical domain. "
4.	TOR Serine-Threonine KinasesIBA 11/04/2019 - "Here we show that a Magel2 null mouse model and fibroblast cell lines from individuals with SHFYNG exhibit increased expression of mammalian target of rapamycin (mTOR) and decreased autophagy. "
5.	snRNP Core ProteinsIBA 01/01/2021 - "The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature."
6.	UbiquitinIBA 01/01/2017 - "This review provides an overview of the MAGE protein family of ubiquitin ligases regulators and details the molecular and cellular role of MAGEL2 in ubiquitination, actin regulation and endosomal sorting processes, as well as MAGEL2 implications in PWS and SHFYNG disorders. "
7.	Sirolimus (Rapamycin)FDA Link 11/04/2019 - "Alterations in SHFYNG patient fibroblast lines and iPSC-derived neurons are rescued by treatment with the mTOR inhibitor rapamycin. "
8.	Vasopressins (Vasopressin)IBA 01/01/2022 - "Relatively high and low copeptin concentrations in association with hypo- and hypernatraemia indicate dysregulated vasopressin production in Schaaf-Yang syndrome." 01/01/2022 - "In one of the patients, there was an underlying diagnosis of Schaaf-Yang syndrome (MAGEL2 gene mutation) with a clinical picture suggestive of dysregulated vasopressin production with inappropriately high and then low copeptin release. "
9.	RNA (Ribonucleic Acid)IBA 01/01/2021 - "The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism."
10.	Prostaglandins DIBA 07/01/2019 - "We present the first data that identified a pathogenic gene (MAGEL2 c.1996delC) in a fetus with Schaaf-Yang syndrome in the EAS (East Asian) database and overcame this genetic defect by using processed PGD for this couple based on the WES results."

Therapies and Procedures

1.	Therapeutics 01/01/2016 - "Magel2-null mice serve as a preclinical model for therapies targeting muscle structure and function in children lacking MAGEL2 diagnosed with Prader-Willi or Schaaf-Yang syndrome." 01/01/2021 - "A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome."