Details of Disease

General Information of Disease (ID: DISHLVWB)

• Disease Name: Woodhouse-Sakati syndrome
• Synonyms: hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities; extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia; hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities; hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome; extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia; hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome; woodhouse Sakati syndrome; diabetes-hypogonadism-deafness-intellectual disability syndrome; woodhouse-Sakati syndrome; Woodhouse-Sakati syndrome
• Definition: Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
• Disease Hierarchy:
  DISEIJV9: Inherited dystonia
  DISEV092: Congenital hypogonadotropic hypogonadism
  DISRK4DZ: Neurodegeneration with brain iron accumulation
  DISHLVWB: Woodhouse-Sakati syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009419
  MESH ID: C536742
  UMLS CUI: C0342286
  OMIM ID: 241080
  MedGen ID: 83337
  Orphanet ID: 3464
  SNOMED CT ID: 816067005

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Testosterone	DM7HUNW	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP6V0A2	OTJBDX0Y	Limited	Genetic Variation	[2]
C19orf12	OTVSJ1AR	Strong	Genetic Variation	[3]
DCAF17	OTFNVJLN	Definitive	Autosomal recessive	[4]

References

• [1] Testosterone FDA Label
• [2] Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.Clin Genet. 2016 Sep;90(3):263-9. doi: 10.1111/cge.12700. Epub 2016 Jan 19.
• [3] A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.Arq Neuropsiquiatr. 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080.
• [4] 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.