Details of Disease

General Information of Disease (ID: DIS2L5YZ)

• Disease Name: Brittle cornea syndrome
• Synonyms: BCS1; EDS VIB (formerly); Ehlers-Danlos syndrome type 6b; Ehlers-Danlos syndrome type 6B (formerly); brittle cornea syndrome 1; brittle cornea syndrome 2; type VIB Ehlers-Danlos syndrome; kyphoscoliosis type; brittle cornea syndrome; brittle cornea syndrome type 1
• Definition: Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
• Disease Hierarchy:
  DISCPWH9: Autosomal recessive disease
  DISSVBRR: Ehlers-Danlos syndrome
  DISTUIM1: Corneal disease
  DIS8I9FS: Hereditary disorder of connective tissue
  DIS2L5YZ: Brittle cornea syndrome

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
PRDM5	OTU1GB68	Supportive	Autosomal recessive	[1]

References

• [1] Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet. 2011 Jun 10;88(6):767-777. doi: 10.1016/j.ajhg.2011.05.007.