Disease: Brittle Cornea Syndrome 1

Name Brittle Cornea Syndrome 1

Synonyms CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY , DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE , EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY; EDS6B, FORMERLY , FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY

Classification developmental, eye, genetic, skin, systemic and rheumatological

Phenotypes Atypical scarring of skin; Autosomal recessive inheritance; Blue sclerae; Congenital hip dislocation; Decreased corneal thickness; Dentinogenesis imperfecta; Disproportionate tall stature; Epicanthus; Hearing impairment; Joint laxity; Keratoconus; Keratoglobus; Macrocephaly; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Palmoplantar cutis laxa; Red hair; Scoliosis; Spondylolisthesis; Visual loss

Associated Genes ZNF469 (Withdrawn symbols: KIAA1858, Zfp469 )

Mouse Orthologs Zfp469 (Withdrawn symbols: Gm22 )

Source OMIM:229200 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter