Details of Disease | DrugMAP

General Information of Disease (ID: DIS21XDG)

Disease Name	Glaucoma 3, primary congenital, E
Synonyms	glaucoma 3, primary congenital, E; GLC3E; GLC3E; glaucoma 3, primary congenital, type E; glaucoma 3, primary congenital, E
Disease Hierarchy	DISJT7ID: TEK-related primary glaucoma DISHN3GO: Congenital glaucoma DIS21XDG: Glaucoma 3, primary congenital, E
Disease Identifiers	MONDO ID MONDO_0014998 UMLS CUI C4310639 OMIM ID 617272 MedGen ID 934606

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TEK	TT9VGXW	Strong	Autosomal dominant	[1]
TEK	TT9VGXW	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TEK	OT78YN57	Strong	Autosomal dominant	[1]
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References

1	A lymphatic defect causes ocular hypertension and glaucoma in mice. J Clin Invest. 2014 Oct;124(10):4320-4. doi: 10.1172/JCI77162. Epub 2014 Sep 9.
2	Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. J Clin Invest. 2016 Jul 1;126(7):2575-87. doi: 10.1172/JCI85830. Epub 2016 Jun 6.