Brittle Cornea Syndrome 1 (BCS1)

Alias:

Fragilitas Oculi with Joint Hyperextensibility

Dysgenesis Mesodermalis Corneae Et Sclerae

Bcs1

Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility

Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility

Ehlers-Danlos Syndrome, Type Vib, Formerly

Ehlers-Danlos Syndrome Type Vib Formerly

Cornea, Brittle, Syndrome, Type 1

Type Vib Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome Type 6

Ehlers-Danlos Syndrome 6b

Eds6b, Formerly

Eds6b Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Brittle Cornea Syndrome 1, also known as fragilitas oculi with joint hyperextensibility, is related to brittle cornea syndrome 2 and brittle cornea syndrome, and has symptoms including unspecified visual loss An important gene associated with Brittle Cornea Syndrome 1 is ZNF469 (Zinc Finger Protein 469). The drugs Riboflavin and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include skin and eye.

Related ID：

MALACARDS：BRT028

OMIM：229200

MESH：C536198