Glaucoma 1, Open Angle, O disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Glaucoma 1, Open Angle, O

MalaCards integrated aliases for Glaucoma 1, Open Angle, O:

Name: Glaucoma 1, Open Angle, O ⁵⁷ ⁷² ²⁹ ⁶ ⁷⁰

Glaucoma 1, Open Angle, 1o ⁵⁷ ¹³

Glc1o ⁵⁷ ⁷²

Primary Open Angle Glaucoma 1o ⁷²

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 613100

MeSH ⁴⁴ D005902

MedGen ⁴¹ C2751294

SNOMED-CT via HPO ⁶⁸ 77075001

UMLS ⁷⁰ C2751294

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Summaries for Glaucoma 1, Open Angle, O

UniProtKB/Swiss-Prot : ⁷² Glaucoma 1, open angle, O: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.

MalaCards based summary : Glaucoma 1, Open Angle, O, is also known as glaucoma 1, open angle, 1o. An important gene associated with Glaucoma 1, Open Angle, O is NTF4 (Neurotrophin 4). Affiliated tissues include eye, and related phenotype is open angle glaucoma.

More information from OMIM: 613100

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Related Diseases for Glaucoma 1, Open Angle, O

Diseases in the Open-Angle Glaucoma family:

Glaucoma 1, Open Angle, a	Glaucoma, Primary Open Angle
Glaucoma 1, Open Angle, P	Glaucoma 1, Primary Open Angle, C
Glaucoma 1, Open Angle, D	Glaucoma 1, Open Angle, F
Glaucoma 1, Open Angle, B	Glaucoma 1, Open Angle, J
Glaucoma 1, Open Angle, K	Glaucoma 1, Open Angle, I
Glaucoma 1, Open Angle, G	Glaucoma 1, Open Angle, M
Glaucoma 1, Open Angle, N	Glaucoma 1, Open Angle, H
Glaucoma 1, Open Angle, O

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Symptoms & Phenotypes for Glaucoma 1, Open Angle, O

Human phenotypes related to Glaucoma 1, Open Angle, O:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	open angle glaucoma ³¹		HP:0012108

Clinical features from OMIM®:

613100 (Updated 20-May-2021)

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Drugs & Therapeutics for Glaucoma 1, Open Angle, O

Search Clinical Trials , NIH Clinical Center for Glaucoma 1, Open Angle, O

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Genetic Tests for Glaucoma 1, Open Angle, O

Genetic tests related to Glaucoma 1, Open Angle, O:

#	Genetic test	Affiliating Genes
1	Glaucoma 1, Open Angle, O ²⁹	NTF4

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Anatomical Context for Glaucoma 1, Open Angle, O

MalaCards organs/tissues related to Glaucoma 1, Open Angle, O:

⁴⁰

Eye

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Publications for Glaucoma 1, Open Angle, O

Articles related to Glaucoma 1, Open Angle, O:

#	Title	Authors	PMID	Year
1	No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. ⁶ ⁵⁷	Liu Y...Hauser MA	20215012	2010
2	Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. ⁵⁷ ⁶	Pasutto F...Reis A	19765683	2009

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Genes for Glaucoma 1, Open Angle, O

Genes related to Glaucoma 1, Open Angle, O (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NTF4	Neurotrophin 4	Protein Coding	1018.58	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	19765683

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Variations for Glaucoma 1, Open Angle, O

ClinVar genetic disease variations for Glaucoma 1, Open Angle, O:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NTF4	NM_006179.4(NTF4):c.617G>A (p.Arg206Gln)	SNV	Pathogenic	14019	rs121918428	GRCh37: 19:49564638-49564638 GRCh38: 19:49061381-49061381
2	NTF4	NM_006179.4(NTF4):c.616C>T (p.Arg206Trp)	SNV	Conflicting interpretations of pathogenicity	14018	rs121918427	GRCh37: 19:49564639-49564639 GRCh38: 19:49061382-49061382
3	NTF4	NM_006179.4(NTF4):c.263C>T (p.Ala88Val)	SNV	Uncertain significance	14017	rs61732310	GRCh37: 19:49564992-49564992 GRCh38: 19:49061735-49061735

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Expression for Glaucoma 1, Open Angle, O

Search GEO for disease gene expression data for Glaucoma 1, Open Angle, O.

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Pathways for Glaucoma 1, Open Angle, O

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GO Terms for Glaucoma 1, Open Angle, O

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Sources for Glaucoma 1, Open Angle, O

¹ BioSystems

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⁵⁷ OMIM® (Updated 20-May-2021)

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⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Glaucoma 1, Open Angle, O (GLC1O)

Aliases & Classifications for Glaucoma 1, Open Angle, O

MalaCards integrated aliases for Glaucoma 1, Open Angle, O:

Classifications:

External Ids:

Summaries for Glaucoma 1, Open Angle, O

Related Diseases for Glaucoma 1, Open Angle, O

Diseases in the Open-Angle Glaucoma family:

Symptoms & Phenotypes for Glaucoma 1, Open Angle, O

Human phenotypes related to Glaucoma 1, Open Angle, O:

Clinical features from OMIM®:

Drugs & Therapeutics for Glaucoma 1, Open Angle, O

Genetic Tests for Glaucoma 1, Open Angle, O

Genetic tests related to Glaucoma 1, Open Angle, O:

Anatomical Context for Glaucoma 1, Open Angle, O

MalaCards organs/tissues related to Glaucoma 1, Open Angle, O:

Publications for Glaucoma 1, Open Angle, O

Articles related to Glaucoma 1, Open Angle, O:

Genes for Glaucoma 1, Open Angle, O

Genes related to Glaucoma 1, Open Angle, O (1 elite genes):

Variations for Glaucoma 1, Open Angle, O

ClinVar genetic disease variations for Glaucoma 1, Open Angle, O:

Expression for Glaucoma 1, Open Angle, O

Pathways for Glaucoma 1, Open Angle, O

GO Terms for Glaucoma 1, Open Angle, O

Sources for Glaucoma 1, Open Angle, O