Glaucoma 3, Primary Congenital, a (GLC3A)

Alias:

Buphthalmos

Congenital Glaucoma

Glaucoma, Congenital

Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset

Primary Congenital Glaucoma

Buphthalmia

Glaucoma, Primary Open Angle, Juvenile-Onset

Primary Congenital Glaucoma 3a

Buphthalmus

Glc3a

Glc3

Glaucoma, Primary Open Angle, Adult-Onset

Glaucoma, Congenital, Primary, Type 3a

Primary Infantile Glaucoma Type 3a

Glaucoma 3a, Primary Congenital

Simple Buphthalmos

Hydrophthalmos

Cystic Eyeball

Glaucoma 3a

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glaucoma 3, Primary Congenital, a, also known as buphthalmos, is related to glaucoma 3, primary infantile, b and gillespie syndrome, and has symptoms including early vision loss An important gene associated with Glaucoma 3, Primary Congenital, a is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1), and among its related pathways/superpathways are O-linked glycosylation of mucins and Diseases of glycosylation. The drugs Travoprost and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye and endothelial, and related phenotypes are glaucoma and nevus flammeus

Related ID：

MALACARDS：GLC097

OMIM：231300

MESH：D005901

ICD11：1106186590