MCID: GLC079
MIFTS: 17

Glaucoma 1, Open Angle, P

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Glaucoma 1, Open Angle, P

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

Name: Glaucoma 1, Open Angle, P 57 75 13 6 73
Glc1p 57 75
Primary Open Angle Glaucoma 1p 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less)


HPO:

32
glaucoma 1, open angle, p:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 57 177700
MeSH 44 D005902
SNOMED-CT via HPO 69 263681008 23986001 370961005
UMLS 73 C3888338

Summaries for Glaucoma 1, Open Angle, P

OMIM : 57 Glaucomas are a group of common neurodegenerative diseases of the optic nerve and retinal ganglion cells, characterized by progressive cupping of the optic nerve head with resultant visual field loss. Elevated intraocular pressure (IOP) is a strong risk factor for glaucoma; however, glaucoma can occur at any IOP. The most common form of glaucoma in the US is primary open-angle glaucoma (POAG; see 137760). POAG that occurs with an IOP below an arbitrary threshold of 21 mm Hg is often termed 'normal tension glaucoma' (summary by Fingert et al., 2011). For a discussion of genetic heterogeneity of primary open angle glaucoma, see 137760. (177700)

MalaCards based summary : Glaucoma 1, Open Angle, P, is also known as glc1p. An important gene associated with Glaucoma 1, Open Angle, P is GLC1P (Glaucoma 1, Open Angle, P). Affiliated tissues include eye, and related phenotypes are glaucoma and increased cup-to-disc ratio

UniProtKB/Swiss-Prot : 75 Glaucoma 1, open angle, P: 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. GLC1P is characterized by early onset, thin central corneas and low intraocular pressure.

Related Diseases for Glaucoma 1, Open Angle, P

Symptoms & Phenotypes for Glaucoma 1, Open Angle, P

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cupping of optic nerve head
increased cup-to-disc ratio
thin central cornea
visual field defects


Clinical features from OMIM:

177700

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

32
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 increased cup-to-disc ratio 32 HP:0012796
3 glaucomatous visual field defect 32 HP:0007854

Drugs & Therapeutics for Glaucoma 1, Open Angle, P

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

Genetic Tests for Glaucoma 1, Open Angle, P

Anatomical Context for Glaucoma 1, Open Angle, P

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

41
Eye

Publications for Glaucoma 1, Open Angle, P

Variations for Glaucoma 1, Open Angle, P

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

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBK1 NM_013254.3(TBK1): c.978T> A (p.Ile326=) single nucleotide variant Benign rs7486100 GRCh37 Chromosome 12, 64875787: 64875787
2 TBK1 NM_013254.3(TBK1): c.978T> A (p.Ile326=) single nucleotide variant Benign rs7486100 GRCh38 Chromosome 12, 64482007: 64482007
3 TBK1 NM_013254.3(TBK1): c.229-4dupT duplication Benign rs57810028 GRCh37 Chromosome 12, 64858110: 64858110
4 TBK1 NM_013254.3(TBK1): c.229-4dupT duplication Benign rs57810028 GRCh38 Chromosome 12, 64464330: 64464330
5 TBK1 NM_013254.3(TBK1): c.1391T> C (p.Val464Ala) single nucleotide variant Benign rs35635889 GRCh37 Chromosome 12, 64882317: 64882317
6 TBK1 NM_013254.3(TBK1): c.1391T> C (p.Val464Ala) single nucleotide variant Benign rs35635889 GRCh38 Chromosome 12, 64488537: 64488537
7 TBK1 NM_013254.3(TBK1): c.66T> C (p.Asn22=) single nucleotide variant Benign rs41292019 GRCh38 Chromosome 12, 64455936: 64455936
8 TBK1 NM_013254.3(TBK1): c.66T> C (p.Asn22=) single nucleotide variant Benign rs41292019 GRCh37 Chromosome 12, 64849716: 64849716
9 TBK1 NM_013254.3(TBK1): c.1960-10G> T single nucleotide variant Benign/Likely benign rs371275822 GRCh38 Chromosome 12, 64497638: 64497638
10 TBK1 NM_013254.3(TBK1): c.1960-10G> T single nucleotide variant Benign/Likely benign rs371275822 GRCh37 Chromosome 12, 64891418: 64891418
11 TBK1 NM_013254.3(TBK1): c.541-18delT deletion Likely benign rs766080967 GRCh37 Chromosome 12, 64867992: 64867992
12 TBK1 NM_013254.3(TBK1): c.541-18delT deletion Likely benign rs766080967 GRCh38 Chromosome 12, 64474212: 64474212

Expression for Glaucoma 1, Open Angle, P

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

Pathways for Glaucoma 1, Open Angle, P

GO Terms for Glaucoma 1, Open Angle, P

Sources for Glaucoma 1, Open Angle, P

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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