Schaaf-Yang Syndrome

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OMIM 57 615547 Orphanet 59 ORPHA398069 ORPHA398073 ICD10 via Orphanet 34 Q87.1 MedGen 42 C3809877

MeSH 44 D000015 SNOMED-CT via HPO 69 263681008 204878001 33927004 34911001 48130008 262016004 27272007 246635007 397540003 7973008 11934000 57190000 16596007 399054005 399252000 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 224958001 205294008 203598005 385522000 55033002 57048009 7890003 88565003 36440009 432788009 414915002 414916001 14760008 225595004 230145002 267036007 271825005 267023007 58424009 72405004 237836003 73430006 78164000 248311001 299032009 more UMLS 73 C3809877

NIH Rare Diseases : ⁵³ Schaaf-Yang syndrome is a genetic condition that affects many parts of the body and is similar to Prader-Willi syndrome. Infants with this syndrome can have low muscle tone (hypotonia), feeding difficulties, developmental delay, intellectual disability, and autism spectrum disorder. They also typically have joint contractures, affecting the finger joints and sometimes the knees and elbows. This syndrome does not usually cause the high appetite seen in people with Prader-Willi syndrome. Schaaf-Yang syndrome is caused by a mutation in the MAGEL2 gene on chromosome 15. This syndrome is related to Prader-Willi syndrome because if MAGEL2 and several additional genes on chromosome 15 are missing or inactivated, then a person will develop Prader-Willi syndrome. 

MalaCards based summary : Schaaf-Yang Syndrome, also known as prader-willi-like syndrome, is related to prader-willi syndrome and prader-willi-like syndrome due to a point mutation, and has symptoms including constipation An important gene associated with Schaaf-Yang Syndrome is MAGEL2 (MAGE Family Member L2). Affiliated tissues include skin and eye, and related phenotypes are obesity and high palate

OMIM : ⁵⁷ SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017) (615547)

UniProtKB/Swiss-Prot : ⁷⁵ Schaaf-Yang syndrome: A disease characterized by clinical features of Prader-Willi syndrome, including neonatal hypotonia with poor suck, feeding problems in infancy, obesity, developmental delay, short stature, and hypogonadism. Additionally, patients manifest autism spectrum disorder. Some patients have dysmorphic facial features.

Clinical features from OMIM:

615547

Search Clinical Trials , NIH Clinical Center for Schaaf-Yang Syndrome

Search GEO for disease gene expression data for Schaaf-Yang Syndrome.