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MCID: INT323
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Intraocular Pressure Quantitative Trait Locus

Categories: Eye diseases
Genes Variations Tissues Related diseases Pathways
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Aliases & Classifications for Intraocular Pressure Quantitative Trait Locus

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MalaCards integrated aliases for Intraocular Pressure Quantitative Trait Locus:

Name: Intraocular Pressure Quantitative Trait Locus 57
Iopqtl 57

Classifications:

MalaCards categories:
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 611522
ICD10 33 H40
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Summaries for Intraocular Pressure Quantitative Trait Locus

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PubMed Health : 63 Vision often worsens with age. In addition to this normal aging effect, people may also develop eye conditions that further impair their eyesight or even lead to blindness. Glaucoma is one of the more common eye diseases.The term "glaucoma" is used to describe a number of different eye conditions, all of which involve damage to the optic nerve. This leads to ever larger gaps in the field of vision, which often remain unnoticed at first. Your field of vision is what you can see when you look straight ahead, without moving your eyes. In advanced stages, your ability to see things sharply (visual acuity) also gets worse.The following information mainly covers the most common form of glaucoma, called primary open-angle glaucoma (POAG). It progresses slowly, and damage to the optic nerve will not cause vision problems for many years. Eye drops and surgery are the most common treatment options.

MalaCards based summary : Intraocular Pressure Quantitative Trait Locus, also known as iopqtl, is related to ritscher-schinzel syndrome and glaucoma, normal tension. An important gene associated with Intraocular Pressure Quantitative Trait Locus is ZEB1 (Zinc Finger E-Box Binding Homeobox 1), and among its related pathways/superpathways is Heart Development. Affiliated tissues include eye, and related phenotypes are homeostasis/metabolism and vision/eye

Wikipedia : 76 Glaucoma is a group of eye diseases which result in damage to the optic nerve and vision loss. The most... more...

Description from OMIM: 611522
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Related Diseases for Intraocular Pressure Quantitative Trait Locus

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Diseases related to Intraocular Pressure Quantitative Trait Locus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 ritscher-schinzel syndrome 10.2 FOXC1 OPTN
2 glaucoma, normal tension 10.2 LOXL1 OPTN
3 ocular hypertension 10.1 MYOC OPTN
4 acrofrontofacionasal dysostosis 10.1 CYP1B1 OPTN
5 phacogenic glaucoma 10.0 LOXL1 OPTN
6 optic nerve disease 10.0 MYOC OPTN
7 vernal conjunctivitis 10.0 LOXL1 OPTN
8 axenfeld-rieger syndrome, type 3 9.8 FOXC1 PITX2
9 anterior segment dysgenesis 4 9.7 FOXC1 PITX2
10 corneal disease 9.7 OPTN ZEB1
11 glaucoma 1, open angle, a 9.7 CYP1B1 MYOC OPTN
12 cornea plana 9.7 FOXC1 PITX2
13 excessive tearing 9.7 CYP1B1 MYOC OPTN
14 intestinal atresia 9.7 FOXC1 PITX2
15 corneal edema 9.7 CYP1B1 MYOC OPTN
16 primary angle-closure glaucoma 9.7 CYP1B1 MYOC OPTN
17 persistent hyperplastic primary vitreous 9.6 FOXC1 PITX2
18 fuchs' endothelial dystrophy 9.5 PITX2 ZEB1
19 low tension glaucoma 9.4 CDKN2B-AS1 MYOC OPTN WDR36
20 axenfeld-rieger syndrome, type 2 9.3 FOXC1 OPTN PITX2
21 early-onset glaucoma 9.2 CYP1B1 MYOC PITX2
22 anterior segment dysgenesis 9.1 CYP1B1 FOXC1 PITX2
23 peters-plus syndrome 9.0 CYP1B1 FOXC1 PITX2
24 glaucoma-related pigment dispersion syndrome 9.0 CYP1B1 LOXL1 PITX2
25 iris disease 8.8 FOXC1 LOXL1 OPTN PITX2
26 hydrophthalmos 8.7 CYP1B1 FOXC1 OPTN PITX2
27 axenfeld-rieger syndrome 8.6 CYP1B1 FOXC1 OPTN PITX2
28 aniridia 1 8.6 CYP1B1 FOXC1 OPTN PITX2
29 glaucoma 3, primary congenital, a 8.2 CYP1B1 FOXC1 MYOC OPTN PITX2
30 glaucoma, primary open angle 8.1 CDKN2B-AS1 CYP1B1 LOXL1 MYOC OPTN WDR36
31 open-angle glaucoma 8.1 CDKN2B-AS1 CYP1B1 LOXL1 MYOC OPTN WDR36
32 primary congenital glaucoma 7.6 CYP1B1 FOXC1 MYOC OPTN PITX2 WDR36
33 juvenile glaucoma 7.6 CYP1B1 FOXC1 MYOC OPTN PITX2 WDR36

Graphical network of the top 20 diseases related to Intraocular Pressure Quantitative Trait Locus:



Diseases related to Intraocular Pressure Quantitative Trait Locus
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Symptoms & Phenotypes for Intraocular Pressure Quantitative Trait Locus

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Clinical features from OMIM:

611522

MGI Mouse Phenotypes related to Intraocular Pressure Quantitative Trait Locus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 CYP1B1 FOXC1 LOXL1 OPTN PITX2 WDR36
2 vision/eye MP:0005391 9.02 CYP1B1 FOXC1 MYOC PITX2 ZEB1
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Drugs & Therapeutics for Intraocular Pressure Quantitative Trait Locus

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PubMedHealth treatment related to Intraocular Pressure Quantitative Trait Locus: 63

Lowering high intraocular pressure can help to delay or stop the gradual progression of vision loss. Glaucoma can't be cured, though, because existing damage to the optic nerve can't be reversed. If someone has glaucoma and high intraocular pressure, it is usually treated using eye drops. Depending on the specific product, the eye drops are applied either once or several times a day.Surgery or laser therapy may be considered if the medication doesn't work, stops working after a while, or is not well tolerated.

Search Clinical Trials , NIH Clinical Center for Intraocular Pressure Quantitative Trait Locus

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Genetic Tests for Intraocular Pressure Quantitative Trait Locus

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Anatomical Context for Intraocular Pressure Quantitative Trait Locus

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MalaCards organs/tissues related to Intraocular Pressure Quantitative Trait Locus:

41
Eye
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Publications for Intraocular Pressure Quantitative Trait Locus

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Variations for Intraocular Pressure Quantitative Trait Locus

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ClinVar genetic disease variations for Intraocular Pressure Quantitative Trait Locus:

6
(show top 50) (show all 57)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYOC NM_000261.1(MYOC): c.227G> A (p.Arg76Lys) single nucleotide variant Benign/Likely benign rs2234926 GRCh37 Chromosome 1, 171621525: 171621525
2 MYOC NM_000261.1(MYOC): c.227G> A (p.Arg76Lys) single nucleotide variant Benign/Likely benign rs2234926 GRCh38 Chromosome 1, 171652385: 171652385
3 MYOC NM_000261.1(MYOC): c.855G> T (p.Thr285=) single nucleotide variant Benign/Likely benign rs146606638 GRCh37 Chromosome 1, 171605725: 171605725
4 MYOC NM_000261.1(MYOC): c.855G> T (p.Thr285=) single nucleotide variant Benign/Likely benign rs146606638 GRCh38 Chromosome 1, 171636585: 171636585
5 MYOC NM_000261.1(MYOC): c.823A> T (p.Lys275Ter) single nucleotide variant risk factor rs879255525 GRCh37 Chromosome 1, 171605757: 171605757
6 MYOC NM_000261.1(MYOC): c.823A> T (p.Lys275Ter) single nucleotide variant risk factor rs879255525 GRCh38 Chromosome 1, 171636617: 171636617
7 46;XX;t(X;22)(q13;q13) Translocation Uncertain significance
8 MYOC NM_000261.1(MYOC): c.*241A> G single nucleotide variant Uncertain significance rs186880389 GRCh37 Chromosome 1, 171604824: 171604824
9 MYOC NM_000261.1(MYOC): c.*241A> G single nucleotide variant Uncertain significance rs186880389 GRCh38 Chromosome 1, 171635684: 171635684
10 MYOC NM_000261.1(MYOC): c.*71G> A single nucleotide variant Uncertain significance rs886045564 GRCh37 Chromosome 1, 171604994: 171604994
11 MYOC NM_000261.1(MYOC): c.*71G> A single nucleotide variant Uncertain significance rs886045564 GRCh38 Chromosome 1, 171635854: 171635854
12 MYOC NM_000261.1(MYOC): c.1188G> A (p.Glu396=) single nucleotide variant Likely benign rs61730975 GRCh37 Chromosome 1, 171605392: 171605392
13 MYOC NM_000261.1(MYOC): c.1188G> A (p.Glu396=) single nucleotide variant Likely benign rs61730975 GRCh38 Chromosome 1, 171636252: 171636252
14 MYOC NM_000261.1(MYOC): c.865G> A (p.Asp289Asn) single nucleotide variant Uncertain significance rs767627671 GRCh37 Chromosome 1, 171605715: 171605715
15 MYOC NM_000261.1(MYOC): c.865G> A (p.Asp289Asn) single nucleotide variant Uncertain significance rs767627671 GRCh38 Chromosome 1, 171636575: 171636575
16 MYOC NM_000261.1(MYOC): c.728C> A (p.Thr243Asn) single nucleotide variant Uncertain significance rs781655611 GRCh37 Chromosome 1, 171607739: 171607739
17 MYOC NM_000261.1(MYOC): c.728C> A (p.Thr243Asn) single nucleotide variant Uncertain significance rs781655611 GRCh38 Chromosome 1, 171638599: 171638599
18 MYOC NM_000261.1(MYOC): c.39T> G (p.Pro13=) single nucleotide variant Likely benign rs12082573 GRCh37 Chromosome 1, 171621713: 171621713
19 MYOC NM_000261.1(MYOC): c.39T> G (p.Pro13=) single nucleotide variant Likely benign rs12082573 GRCh38 Chromosome 1, 171652573: 171652573
20 MYOC NM_000261.1(MYOC): c.*182C> A single nucleotide variant Uncertain significance rs886045563 GRCh37 Chromosome 1, 171604883: 171604883
21 MYOC NM_000261.1(MYOC): c.*182C> A single nucleotide variant Uncertain significance rs886045563 GRCh38 Chromosome 1, 171635743: 171635743
22 MYOC NM_000261.1(MYOC): c.1041T> C (p.Tyr347=) single nucleotide variant Benign/Likely benign rs61730974 GRCh37 Chromosome 1, 171605539: 171605539
23 MYOC NM_000261.1(MYOC): c.1041T> C (p.Tyr347=) single nucleotide variant Benign/Likely benign rs61730974 GRCh38 Chromosome 1, 171636399: 171636399
24 MYOC NM_000261.1(MYOC): c.871G> A (p.Val291Ile) single nucleotide variant Uncertain significance rs886045565 GRCh37 Chromosome 1, 171605709: 171605709
25 MYOC NM_000261.1(MYOC): c.871G> A (p.Val291Ile) single nucleotide variant Uncertain significance rs886045565 GRCh38 Chromosome 1, 171636569: 171636569
26 MYOC NM_000261.1(MYOC): c.648G> A (p.Lys216=) single nucleotide variant Uncertain significance rs141584495 GRCh37 Chromosome 1, 171607819: 171607819
27 MYOC NM_000261.1(MYOC): c.648G> A (p.Lys216=) single nucleotide variant Uncertain significance rs141584495 GRCh38 Chromosome 1, 171638679: 171638679
28 MYOC NM_000261.1(MYOC): c.335A> G (p.Glu112Gly) single nucleotide variant Uncertain significance rs886045566 GRCh37 Chromosome 1, 171621417: 171621417
29 MYOC NM_000261.1(MYOC): c.335A> G (p.Glu112Gly) single nucleotide variant Uncertain significance rs886045566 GRCh38 Chromosome 1, 171652277: 171652277
30 MYOC NM_000261.1(MYOC): c.304T> A (p.Leu102Met) single nucleotide variant Uncertain significance rs140017103 GRCh37 Chromosome 1, 171621448: 171621448
31 MYOC NM_000261.1(MYOC): c.304T> A (p.Leu102Met) single nucleotide variant Uncertain significance rs140017103 GRCh38 Chromosome 1, 171652308: 171652308
32 MYOC NM_000261.1(MYOC): c.239C> A (p.Thr80Asn) single nucleotide variant Uncertain significance rs886045567 GRCh37 Chromosome 1, 171621513: 171621513
33 MYOC NM_000261.1(MYOC): c.239C> A (p.Thr80Asn) single nucleotide variant Uncertain significance rs886045567 GRCh38 Chromosome 1, 171652373: 171652373
34 MYOC NM_000261.1(MYOC): c.114G> A (p.Arg38=) single nucleotide variant Uncertain significance rs767644139 GRCh37 Chromosome 1, 171621638: 171621638
35 MYOC NM_000261.1(MYOC): c.114G> A (p.Arg38=) single nucleotide variant Uncertain significance rs767644139 GRCh38 Chromosome 1, 171652498: 171652498
36 MYOC NM_000261.1(MYOC): c.*426C> T single nucleotide variant Uncertain significance rs142425726 GRCh37 Chromosome 1, 171604639: 171604639
37 MYOC NM_000261.1(MYOC): c.*426C> T single nucleotide variant Uncertain significance rs142425726 GRCh38 Chromosome 1, 171635499: 171635499
38 MYOC NM_000261.1(MYOC): c.*331A> G single nucleotide variant Uncertain significance rs548121911 GRCh38 Chromosome 1, 171635594: 171635594
39 MYOC NM_000261.1(MYOC): c.*331A> G single nucleotide variant Uncertain significance rs548121911 GRCh37 Chromosome 1, 171604734: 171604734
40 MYOC NM_000261.1(MYOC): c.*188C> T single nucleotide variant Uncertain significance rs886045562 GRCh37 Chromosome 1, 171604877: 171604877
41 MYOC NM_000261.1(MYOC): c.*188C> T single nucleotide variant Uncertain significance rs886045562 GRCh38 Chromosome 1, 171635737: 171635737
42 MYOC NM_000261.1(MYOC): c.992C> T (p.Ser331Leu) single nucleotide variant Uncertain significance rs775982158 GRCh37 Chromosome 1, 171605588: 171605588
43 MYOC NM_000261.1(MYOC): c.992C> T (p.Ser331Leu) single nucleotide variant Uncertain significance rs775982158 GRCh38 Chromosome 1, 171636448: 171636448
44 MYOC NM_000261.1(MYOC): c.975G> A (p.Thr325=) single nucleotide variant Likely benign rs61730976 GRCh37 Chromosome 1, 171605605: 171605605
45 MYOC NM_000261.1(MYOC): c.975G> A (p.Thr325=) single nucleotide variant Likely benign rs61730976 GRCh38 Chromosome 1, 171636465: 171636465
46 MYOC NM_000261.1(MYOC): c.568G> T (p.Asp190Tyr) single nucleotide variant Uncertain significance rs201930435 GRCh37 Chromosome 1, 171621184: 171621184
47 MYOC NM_000261.1(MYOC): c.568G> T (p.Asp190Tyr) single nucleotide variant Uncertain significance rs201930435 GRCh38 Chromosome 1, 171652044: 171652044
48 MYOC NM_000261.1(MYOC): c.224A> G (p.Gln75Arg) single nucleotide variant Uncertain significance rs886045568 GRCh37 Chromosome 1, 171621528: 171621528
49 MYOC NM_000261.1(MYOC): c.224A> G (p.Gln75Arg) single nucleotide variant Uncertain significance rs886045568 GRCh38 Chromosome 1, 171652388: 171652388
50 MYOC NM_000261.1(MYOC): c.477A> G (p.Leu159=) single nucleotide variant Likely benign rs61730977 GRCh37 Chromosome 1, 171621275: 171621275

Copy number variations for Intraocular Pressure Quantitative Trait Locus from CNVD:

7 (show all 14)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 38426 10 102495457 102579688 Copy number PAX2 Glaucoma
2 61504 12 1 3100000 Copy number TULP3 Glaucoma
3 69805 12 56300000 66000000 Copy number 12orf56 Glaucoma
4 69807 12 56300000 66000000 Copy number RASSF3 Glaucoma
5 69808 12 56300000 66000000 Copy number TBK1 Glaucoma
6 69809 12 56300000 66000000 Copy number XPOT Glaucoma
7 69812 12 56300000 66000000 Duplication Glaucoma
8 88183 14 87469110 87529660 Deletion GALC Glaucoma
9 101484 16 3862993 3941884 Deletion Glaucoma
10 154919 20 5000000 17800000 Copy number PAK7 Glaucoma
11 192610 5 115200000 121500000 Copy number DMXL1 Glaucoma
12 192611 5 115200000 121500000 Copy number DTWD2 Glaucoma
13 203721 6 1 7100000 Copy number FOXC1 Glaucoma
14 203722 4 111758028 111782566 Copy number PITX2 Glaucoma
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Expression for Intraocular Pressure Quantitative Trait Locus

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Search GEO for disease gene expression data for Intraocular Pressure Quantitative Trait Locus.
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Pathways for Intraocular Pressure Quantitative Trait Locus

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Pathways related to Intraocular Pressure Quantitative Trait Locus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Heart Development 1
10.29 FOXC1 PITX2
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GO Terms for Intraocular Pressure Quantitative Trait Locus

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Biological processes related to Intraocular Pressure Quantitative Trait Locus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 9.32 FOXC1 PITX2
2 odontogenesis of dentin-containing tooth GO:0042475 9.26 FOXC1 PITX2
3 blood vessel development GO:0001568 9.16 FOXC1 LOXL1
4 positive regulation of DNA binding GO:0043388 8.96 FOXC1 PITX2
5 collagen fibril organization GO:0030199 8.8 CYP1B1 FOXC1 LOXL1

Molecular functions related to Intraocular Pressure Quantitative Trait Locus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 8.8 FOXC1 PITX2 ZEB1
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Sources for Intraocular Pressure Quantitative Trait Locus

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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