Details of Disease | DrugMAP

General Information of Disease (ID: DISVCH5D)

Disease Name	Glaucoma 1, open angle, O
Synonyms	GLC1O; glaucoma 1, open angle, type O; glaucoma 1, open angle, O; open-angle glaucoma caused by mutation in NTF4; NTF4 open-angle glaucoma; glaucoma 1, open angle, 1O
Definition	Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.
Disease Hierarchy	DISSZEE8: Open-angle glaucoma DISJYSR1: Hereditary glaucoma DISVCH5D: Glaucoma 1, open angle, O
Disease Identifiers	MONDO ID MONDO_0013134 MESH ID C567753 UMLS CUI C2751294 OMIM ID 613100 MedGen ID 416515

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
NTF4	TTIM2WO	Limited	Genetic Variation	[1]
NTF4	TTIM2WO	Disputed	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NTF4	OTHB658P	Disputed	Autosomal dominant	[2]
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References

1	No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma.Am J Hum Genet. 2010 Mar 12;86(3):498-9; author reply 500. doi: 10.1016/j.ajhg.2009.11.018.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.