DISEASES

Disease-gene associations mined from literature

Human genes for brittle cornea syndrome 1

Brittle cornea syndrome 1 [DOID:14775]

An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.

Synonyms:  brittle cornea syndrome 1,  DOID:14775,  type VIB Ehlers-Danlos syndrome,  type VIB EhlersDanlos syndrome,  type VIB Ehlers-Danlos disease ...

Linkouts:  OMIM #1 #2 #3