Details of Disease

General Information of Disease (ID: DIS3HDJY)

• Disease Name: Choroideremia-deafness-obesity syndrome
• Synonyms: choroideremia, deafness, and mental retardation; chromosome Xq21 deletion syndrome; choroideremia deafness obesity; choroideremia, obesity, and congenital deafness; choroideremia, deafness, and intellectual disability; Xq21 deletion syndrome, X-linked recessive; Ayazi syndrome
• Definition: Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.
• Disease Hierarchy:
  DISGGL77: Inherited retinal dystrophy
  DIS3HDJY: Choroideremia-deafness-obesity syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010558
  UMLS CUI: C3551019
  OMIM ID: 303110
  MedGen ID: 763933
  Orphanet ID: 1435

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
POU3F4	OTKF5AF7	Supportive	X-linked	[1]

References

• [1] Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness. Am J Med Genet A. 2007 Nov 1;143A(21):2564-75. doi: 10.1002/ajmg.a.31995.