Aliases & Classifications for Glaucoma 1, Open Angle, F

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

Name: Glaucoma 1, Open Angle, F 57 75 29 13 6 73
Glc1f 57 75
Glaucoma, Primary Open Angle, Adult-Onset 57
Adult-Onset Primary Open Angle Glaucoma 75
Primary Open Angle Glaucoma 1f 75
Glaucoma, Primary Open Angle 73
Poag 75

Characteristics:

HPO:

32
glaucoma 1, open angle, f:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 603383
MedGen 42 C1863926
MeSH 44 D005902
UMLS 73 C1863926

Summaries for Glaucoma 1, Open Angle, F

UniProtKB/Swiss-Prot : 75 Glaucoma 1, open angle, F: 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, F, also known as glc1f, is related to glaucoma 1, open angle, d and glaucoma, primary open angle. An important gene associated with Glaucoma 1, Open Angle, F is ASB10 (Ankyrin Repeat And SOCS Box Containing 10). Affiliated tissues include eye, and related phenotypes are glaucomatous visual field defect and increased intraocular pressure

Description from OMIM: 603383

Related Diseases for Glaucoma 1, Open Angle, F

Diseases in the Glaucoma 1, Open Angle, D family:

Glaucoma 1, Primary Open Angle, C Glaucoma 1, Open Angle, F
Glaucoma 1, Open Angle, B Glaucoma 1, Open Angle, G

Diseases related to Glaucoma 1, Open Angle, F via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glaucoma 1, open angle, d 11.6
2 glaucoma, primary open angle 11.5
3 glaucoma 3, primary congenital, a 11.5

Symptoms & Phenotypes for Glaucoma 1, Open Angle, F

Clinical features from OMIM:

603383

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

32
# Description HPO Frequency HPO Source Accession
1 glaucomatous visual field defect 32 HP:0007854
2 increased intraocular pressure 32 HP:0007906
3 open angle glaucoma 32 HP:0012108
4 increased cup-to-disc ratio 32 HP:0012796

Drugs & Therapeutics for Glaucoma 1, Open Angle, F

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

Genetic Tests for Glaucoma 1, Open Angle, F

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

# Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, F 29 ASB10

Anatomical Context for Glaucoma 1, Open Angle, F

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

41
Eye

Publications for Glaucoma 1, Open Angle, F

Articles related to Glaucoma 1, Open Angle, F:

(show all 15)
# Title Authors Year
1
Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population. ( 23206929 )
2013
2
Interactive effects of ATOH7 and RFTN1 in association with adult-onset primary open-angle glaucoma. ( 22222511 )
2012
3
Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. ( 17563717 )
2007
4
A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region. ( 17210857 )
2007
5
Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family. ( 16374045 )
2006
6
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. ( 15677485 )
2005
7
Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma. ( 15823921 )
2005
8
Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. ( 12912697 )
2003
9
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. ( 11834836 )
2002
10
The Gly367Arg mutation in the myocilin gene causes adult-onset primary open-angle glaucoma. ( 10974305 )
2000
11
Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. ( 9497264 )
1998
12
Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. ( 9012402 )
1997
13
Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. ( 8812425 )
1996
14
Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31. ( 9004141 )
1996
15
A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q. ( 7762566 )
1995

Variations for Glaucoma 1, Open Angle, F

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ASB10 NM_080871.3(ASB10): c.574G> C (p.Val192Leu) single nucleotide variant Pathogenic rs104886474 GRCh37 Chromosome 7, 150878511: 150878511
2 ASB10 NM_080871.3(ASB10): c.574G> C (p.Val192Leu) single nucleotide variant Pathogenic rs104886474 GRCh38 Chromosome 7, 151181424: 151181424
3 ASB10 NM_001142459.1(ASB10): c.215G> A (p.Arg72His) single nucleotide variant Pathogenic rs104886488 GRCh37 Chromosome 7, 150884003: 150884003
4 ASB10 NM_080871.3(ASB10): c.765C> T (p.Thr255=) single nucleotide variant Pathogenic rs104886478 GRCh37 Chromosome 7, 150878320: 150878320
5 ASB10 NM_080871.3(ASB10): c.765C> T (p.Thr255=) single nucleotide variant Pathogenic rs104886478 GRCh38 Chromosome 7, 151181233: 151181233
6 ASB10 NM_080871.3(ASB10): c.519C> A (p.Cys173Ter) single nucleotide variant Pathogenic rs151344606 GRCh37 Chromosome 7, 150883499: 150883499
7 ASB10 NM_080871.3(ASB10): c.519C> A (p.Cys173Ter) single nucleotide variant Pathogenic rs151344606 GRCh38 Chromosome 7, 151186412: 151186412
8 ASB10 NM_001142459.1(ASB10): c.215G> A (p.Arg72His) single nucleotide variant Pathogenic rs104886488 GRCh38 Chromosome 7, 151186916: 151186916

Expression for Glaucoma 1, Open Angle, F

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

Pathways for Glaucoma 1, Open Angle, F

GO Terms for Glaucoma 1, Open Angle, F

Sources for Glaucoma 1, Open Angle, F

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