Details of Disease | DrugMAP

General Information of Disease (ID: DIS89BQI)

Disease Name	Schaaf-Yang syndrome
Synonyms	Prader-Willi-like syndrome; distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies; Chitayat-Hall syndrome; Prader-Willi syndrome due to point mutation; PWS due to a point mutation; MAGEL2-related Prader-Willi-like syndrome; MAGEL2-related PWLS; SHFYNG; Schaaf-Yang syndrome; arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies; arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
Disease Hierarchy	DISYWMLU: Prader-Willi syndrome DIS89BQI: Schaaf-Yang syndrome
Disease Identifiers	MONDO ID MONDO_0014243 MESH ID C000726748 UMLS CUI C5575066 OMIM ID 615547 MedGen ID 1807366 Orphanet ID 398069 SNOMED CT ID 1229946007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAGEL2	OTXEL4R7	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.