GLC1D
MCID: GLC100
MIFTS: 29

Glaucoma 1, Open Angle, D (GLC1D)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glaucoma 1, Open Angle, D

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

Name: Glaucoma 1, Open Angle, D 57 29 13 71
Glaucoma, Primary Open Angle, Adult-Onset 57 54 6
Glaucoma 1d, Primary Open Angle 57
Glc1d 57

Classifications:



External Ids:

OMIM® 57 602429
MedGen 41 C1865427
UMLS 71 C1865427

Summaries for Glaucoma 1, Open Angle, D

MalaCards based summary : Glaucoma 1, Open Angle, D, also known as glaucoma, primary open angle, adult-onset, is related to glaucoma 3, primary congenital, a and intraocular pressure quantitative trait locus. An important gene associated with Glaucoma 1, Open Angle, D is MYOC (Myocilin).

More information from OMIM: 602429

Related Diseases for Glaucoma 1, Open Angle, D

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

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary congenital, a 31.6 OPTN MYOC LTBP2 CYP1B1
2 intraocular pressure quantitative trait locus 29.1 OPTN MYOC LTBP2 CYP1B1
3 glaucoma, primary open angle 27.4 OPTN MYOC LTBP2 LOC108903148 CYP1B1 CARD10
4 open-angle glaucoma 27.4 OPTN MYOC LTBP2 LOC108903148 CYP1B1 CARD10
5 glaucoma 1, open angle, f 11.5
6 early-onset glaucoma 10.1 MYOC CYP1B1
7 microphthalmia, isolated 2 10.1 MYOC CYP1B1
8 glaucoma 3, primary infantile, b 10.1 LTBP2 CYP1B1
9 steroid-induced glaucoma 10.1 MYOC CYP1B1
10 axenfeld-rieger syndrome, type 1 10.0 CYP1B1 ASB10
11 axenfeld-rieger syndrome, type 3 10.0 CYP1B1 ASB10
12 traumatic glaucoma 10.0 MYOC LTBP2 CYP1B1
13 excessive tearing 10.0 MYOC LTBP2 CYP1B1
14 hydrophthalmos 9.9 MYOC LTBP2 CYP1B1
15 megalocornea 9.9 MYOC LTBP2 CYP1B1
16 nanophthalmos 9.9 MYOC ASB10
17 corneal edema 9.9 MYOC LTBP2 CYP1B1
18 iris disease 9.9 MYOC LTBP2 CYP1B1
19 aniridia 1 9.9 MYOC LTBP2 CYP1B1
20 anterior segment dysgenesis 9.9 MYOC LTBP2 CYP1B1
21 peters-plus syndrome 9.9 MYOC LTBP2 CYP1B1
22 keratitis, hereditary 9.8 MYOC CYP1B1
23 ocular hypertension 9.8 OPTN MYOC
24 cranial nerve disease 9.8 OPTN MYOC
25 glaucoma 1, open angle, a 9.7 OPTN MYOC CYP1B1
26 acute closed-angle glaucoma 9.7 OPTN MYOC CYP1B1
27 phacogenic glaucoma 9.7 OPTN MYOC LTBP2
28 primary angle-closure glaucoma 9.7 OPTN MYOC CYP1B1
29 glaucoma-related pigment dispersion syndrome 9.5 OPTN MYOC CYP1B1 ASB10
30 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia 9.5 OPTN LOC108903148 CAMK1D
31 eye disease 9.5 OPTN MYOC CYP1B1
32 amyotrophic lateral sclerosis type 12 9.5 OPTN LOC108903148 CAMK1D
33 juvenile glaucoma 9.3 OPTN MYOC LTBP2 CYP1B1 ASB10
34 primary congenital glaucoma 9.3 OPTN MYOC LTBP2 CYP1B1 ASB10
35 axenfeld-rieger syndrome 9.3 OPTN MYOC LTBP2 CYP1B1 ASB10
36 glaucoma, normal tension 9.2 OPTN MYOC LOC108903148 CYP1B1 ASB10

Graphical network of the top 20 diseases related to Glaucoma 1, Open Angle, D:



Diseases related to Glaucoma 1, Open Angle, D

Symptoms & Phenotypes for Glaucoma 1, Open Angle, D

Clinical features from OMIM®:

602429 (Updated 05-Mar-2021)

Drugs & Therapeutics for Glaucoma 1, Open Angle, D

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Ganglion Cell and Retinal Nerve Fiber Layer Thickness in Primary Open Angle Glaucoma and Normal Tension Glaucoma With Spectral Domain OCT Completed NCT01612416

Search NIH Clinical Center for Glaucoma 1, Open Angle, D

Genetic Tests for Glaucoma 1, Open Angle, D

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

# Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, D 29

Anatomical Context for Glaucoma 1, Open Angle, D

Publications for Glaucoma 1, Open Angle, D

Articles related to Glaucoma 1, Open Angle, D:

(show all 23)
# Title Authors PMID Year
1
A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. 61 57
9683145 1998
2
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
3
Variants in ASB10 are associated with open-angle glaucoma. 6
22156576 2012
4
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. 6
21081970 2011
5
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. 6
19643970 2010
6
Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. 6
19807744 2009
7
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. 6
19234632 2009
8
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. 6
18470941 2008
9
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. 6
18537981 2008
10
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 6
15342693 2004
11
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. 6
12372064 2002
12
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. 6
11774072 2002
13
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. 6
10655546 2000
14
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. 6
10227395 1999
15
GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. 6
10037570 1999
16
Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. 6
9497261 1998
17
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. 6
9463332 1998
18
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. 6
9097971 1997
19
Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis. 61
21765929 2011
20
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter. 61
15823925 2005
21
Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. 54
15069026 2004
22
Exclusion of 14 candidate loci for primary open angle glaucoma in Finnish families. 61
15073581 2004
23
[Genetic ground of primary open angle glaucoma]. 61
15646497 2004

Variations for Glaucoma 1, Open Angle, D

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

6 (show top 50) (show all 332)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP1B1 CYP1B1, 13-BP DEL, NT1410 Deletion Pathogenic 7728
2 CYP1B1 CYP1B1, 1-BP INS, 1209C Insertion Pathogenic 7729
3 CYP1B1 CYP1B1, 10-BP DUP, NT1546 Duplication Pathogenic 7731
4 CYP1B1 NM_000104.3(CYP1B1):c.1093G>T (p.Gly365Trp) SNV Pathogenic 7732 rs55771538 2:38298404-38298404 2:38071261-38071261
5 CYP1B1 CYP1B1, 1-BP DEL, 4339G Deletion Pathogenic 7738
6 CYP1B1 NM_000104.3(CYP1B1):c.694G>C (p.Gly232Arg) SNV Pathogenic 7740 rs104893628 2:38301838-38301838 2:38074695-38074695
7 CYP1B1 CYP1B1, 1-BP DEL, 3979A Deletion Pathogenic 7742
8 CYP1B1 NM_000104.3(CYP1B1):c.1267A>T (p.Asn423Tyr) SNV Pathogenic 7743 rs104893629 2:38298230-38298230 2:38071087-38071087
9 CYP1B1 NM_000104.3(CYP1B1):c.783C>A (p.Phe261Leu) SNV Pathogenic 30223 rs1558603396 2:38301749-38301749 2:38074606-38074606
10 CYP1B1 NM_000104.3(CYP1B1):c.1302G>A (p.Trp434Ter) SNV Pathogenic 456638 rs893198212 2:38298195-38298195 2:38071052-38071052
11 CYP1B1 NM_000104.3(CYP1B1):c.1345del (p.Asp449fs) Deletion Pathogenic 456639 rs749073455 2:38298152-38298152 2:38071009-38071009
12 CYP1B1 NM_000104.3(CYP1B1):c.1536_1541del (p.Pro513_Lys514del) Deletion Pathogenic 813355 rs751768343 2:38297956-38297961 2:38070813-38070818
13 CYP1B1 NM_000104.4(CYP1B1):c.1044-3C>G SNV Pathogenic 973773 2:38298456-38298456 2:38071313-38071313
14 CYP1B1 NM_000104.4(CYP1B1):c.1460T>C (p.Leu487Pro) SNV Pathogenic 973774 2:38298037-38298037 2:38070894-38070894
15 CYP1B1 NM_000104.3(CYP1B1):c.-285C>T SNV Pathogenic 813357 rs1573277080 2:38303205-38303205 2:38076063-38076063
16 CYP1B1 NM_000104.3(CYP1B1):c.1405C>T (p.Arg469Trp) SNV Pathogenic 7733 rs28936701 2:38298092-38298092 2:38070949-38070949
17 CYP1B1 NM_000104.3(CYP1B1):c.1168C>T (p.Arg390Cys) SNV Pathogenic 335952 rs148542782 2:38298329-38298329 2:38071186-38071186
18 CYP1B1 NM_000104.3(CYP1B1):c.1063_1075del (p.Arg355fs) Deletion Pathogenic 417858 rs1064792896 2:38298422-38298434 2:38071279-38071291
19 ASB10 NM_001142459.2(ASB10):c.810C>T (p.Thr270=) SNV Pathogenic 50951 rs104886478 7:150878320-150878320 7:151181233-151181233
20 ASB10 NM_001142459.2(ASB10):c.564C>A (p.Cys188Ter) SNV Pathogenic 50952 rs151344606 7:150883499-150883499 7:151186412-151186412
21 ASB10 NM_001142459.2(ASB10):c.619G>C (p.Val207Leu) SNV Pathogenic 50953 rs104886474 7:150878511-150878511 7:151181424-151181424
22 ASB10 NM_001142459.2(ASB10):c.215G>A (p.Arg72His) SNV Pathogenic 50954 rs104886488 7:150884003-150884003 7:151186916-151186916
23 CYP1B1 NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) SNV Pathogenic 7730 rs28936700 2:38302350-38302350 2:38075207-38075207
24 CYP1B1 NM_000104.3(CYP1B1):c.1159G>A (p.Glu387Lys) SNV Pathogenic 7735 rs55989760 2:38298338-38298338 2:38071195-38071195
25 LTBP2 NM_000428.3(LTBP2):c.5376del (p.Cys1793fs) Deletion Pathogenic 126959 rs137854895 14:74967677-74967677 14:74500974-74500974
26 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) SNV Pathogenic 7737 rs72549387 2:38302361-38302361 2:38075218-38075218
27 MYOC NM_000261.2(MYOC):c.1111T>C (p.Tyr371His) SNV Pathogenic 242274 rs878854408 1:171605469-171605469 1:171636329-171636329
28 LOC108903148 NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) Duplication Pathogenic 576203 rs1564354968 10:13151279-13151280 10:13109279-13109280
29 LOC108903148 NC_000010.11:g.(?_13109123)_(13183100_?)del Deletion Pathogenic 583651 10:13151123-13225100 10:13109123-13183100
30 CAMK1D NC_000010.10:g.(?_12833157)_(13178866_?)del Deletion Pathogenic 584050 10:12833157-13178866
31 CYP1B1 NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) SNV Pathogenic 7730 rs28936700 2:38302350-38302350 2:38075207-38075207
32 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) SNV Pathogenic 7737 rs72549387 2:38302361-38302361 2:38075218-38075218
33 OPTN NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) Insertion Pathogenic 647662 rs774258585 10:13154464-13154465 10:13112464-13112465
34 OPTN NC_000010.11:g.(?_13109113)_(13112645_?)del Deletion Pathogenic 832940 10:13151113-13154645
35 LOC108903148 NC_000010.11:g.(?_13109103)_(13136886_?)del Deletion Pathogenic 529764 10:13151103-13178886 10:13109103-13136886
36 OPTN NC_000010.11:g.(?_13116257)_(13116350_?)del Deletion Pathogenic 831344 10:13158257-13158350
37 CYP1B1 NM_000104.3(CYP1B1):c.535del (p.Ala179fs) Deletion Pathogenic 523943 rs771076928 2:38301997-38301997 2:38074854-38074854
38 CYP1B1 NM_000104.3(CYP1B1):c.1200_1209dup (p.Thr404fs) Duplication Pathogenic 68466 rs587778873 2:38298287-38298288 2:38071144-38071145
39 CYP1B1 NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) SNV Pathogenic 7744 rs9282671 2:38302291-38302291 2:38075148-38075148
40 CYP1B1 NM_000104.3(CYP1B1):c.1064_1076del (p.Arg355fs) Deletion Pathogenic 282564 rs72549380 2:38298421-38298433 2:38071278-38071290
41 CARD10 NM_014550.4(CARD10):c.1024G>A (p.Val342Met) SNV risk factor 224914 rs200148764 22:37904575-37904575 22:37508568-37508568
42 LTBP2 NM_000428.3(LTBP2):c.1484G>A (p.Arg495Gln) SNV Likely pathogenic 126950 rs137854858 14:75017969-75017969 14:74551266-74551266
43 LTBP2 NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) SNV Likely pathogenic 126954 rs137854862 14:74975388-74975388 14:74508685-74508685
44 LTBP2 NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg) SNV Likely pathogenic 126955 rs137854863 14:74971805-74971805 14:74505102-74505102
45 LTBP2 NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) SNV Likely pathogenic 126958 rs137854860 14:74969614-74969614 14:74502911-74502911
46 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) SNV Likely pathogenic 7949 rs74315329 1:171605478-171605478 1:171636338-171636338
47 CARD10 NM_014550.4(CARD10):c.1210C>T (p.Arg404Trp) SNV risk factor 224915 rs750643216 22:37902372-37902372 22:37506365-37506365
48 CARD10 NM_014550.4(CARD10):c.635G>A (p.Arg212His) SNV risk factor 224912 rs1057519378 22:37912044-37912044 22:37516037-37516037
49 CARD10 NM_014550.4(CARD10):c.2485C>T (p.Arg829Trp) SNV risk factor 224916 rs201794655 22:37888801-37888801 22:37492794-37492794
50 CARD10 NM_014550.4(CARD10):c.983C>T (p.Ala328Val) SNV risk factor 224913 rs139006752 22:37904616-37904616 22:37508609-37508609

Expression for Glaucoma 1, Open Angle, D

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

Pathways for Glaucoma 1, Open Angle, D

GO Terms for Glaucoma 1, Open Angle, D

Sources for Glaucoma 1, Open Angle, D

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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