Details of Disease

General Information of Disease (ID: DIS4JPRT)

• Disease Name: SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder
• Definition: An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability.
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DIS4JPRT: SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SOX3	OT1CRCOB	Moderate	X-linked	[1]

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.