MCID: GLC030
MIFTS: 35

Glaucoma, Congenital malady

Summaries for Glaucoma, Congenital

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33MalaCards
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MalaCards: Glaucoma, Congenital is related to glaucoma 3, primary congenital, d and juvenile glaucoma. An important gene associated with Glaucoma, Congenital is FOXC1 (forkhead box C1), and among its related pathways is Transcriptional Regulatory Network in Embryonic Stem Cell. The compounds quinone and theophylline have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and heart, and related mouse phenotypes are pigmentation and vision/eye.

Aliases & Classifications for Glaucoma, Congenital

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43NIH Rare Diseases, 22GTR, 45Novoseek
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Aliases & Descriptions:

glaucoma, congenital 43 22 45


Related Diseases for Glaucoma, Congenital

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Glaucoma, Congenital:



Diseases related to glaucoma, congenital

Clinical Features for Glaucoma, Congenital

Drugs & Therapeutics for Glaucoma, Congenital

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Glaucoma, Congenital

Drug clinical trials:

Search ClinicalTrials for Glaucoma, Congenital

Search NIH Clinical Center for Glaucoma, Congenital

Search CenterWatch for Glaucoma, Congenital

Genetic Tests for Glaucoma, Congenital

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22GTR
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Genetic tests related to Glaucoma, Congenital:

id Genetic test Affiliating Genes
1 Glaucoma, Congenital22

Anatomical Context for Glaucoma, Congenital

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33MalaCards
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MalaCards organs/tissues related to Glaucoma, Congenital:

33
Brain, Retina, Heart, Kidney

Animal Models for Glaucoma, Congenital or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Glaucoma, Congenital:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7PAX6, TYR, FOXC1
2MP:00053917.3PAX6, CYP1B1, TYR, MYOC, FOXC1

Publications for Glaucoma, Congenital

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51PubMed
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Articles related to Glaucoma, Congenital:

(show top 50)    (show all 271)
idTitleAuthorsYear
1
Long-term efficacy of latanoprost in primary congenital glaucoma. (24158022)
2014
2
Biomechanical profile of the cornea in primary congenital glaucoma. (22937759)
2013
3
Novel homozygous CYP1B1 deletion in siblings with primary congenital glaucoma. (23215915)
2013
4
Failed school vision test...suspected myopia and corneal dystrophy. Late-recognized primary congenital glaucoma. (23718937)
2013
5
Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma. (23378721)
2013
6
A review of primary congenital glaucoma in the developing world. (23465868)
2013
7
Clinical effect of improved viscocanalostomy for the treatment of primary congenital glaucoma. (22937506)
2012
8
Congenital glaucoma from Sturge-Weber syndrome: a modified surgical approach. (23204808)
2012
9
Concurrent endophthalmitis and orbital cellulitis in a child with congenital glaucoma and a glaucoma drainage device. (23362400)
2011
10
Outcomes of goniotomy for primary congenital glaucoma in East Africa. (21292108)
2011
11
Primary Congenital Glaucoma and the Involvement of CYP1B1. (21572728)
2011
12
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. (21850185)
2011
13
Surgical outcomes with 360-degree suture trabeculotomy in poor-prognosis primary congenital glaucoma and glaucoma associated with congenital anomalies or cataract surgery. (21397807)
2011
14
Identification of differentially expressed proteins in the aqueous humor of primary congenital glaucoma. (21078314)
2011
15
Identification of novel disease gene for primary congenital glaucoma (PCG) through homozygosity mapping and next-generation sequencing. (21560857)
2011
16
Combined trabeculotomy and trabeculectomy: outcome for primary congenital glaucoma in a West African population. (21057523)
2011
17
Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population. (20151268)
2010
18
Sturge-Weber syndrome with congenital glaucoma and cytochrome P450 (CYP1B1) gene mutations. (20051892)
2010
19
Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations. (20827438)
2010
20
Mitochondrial DNA analysis in primary congenital glaucoma. (20361014)
2010
21
Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study. (19597567)
2009
22
Primary congenital glaucoma: making strides in genetic testing, early detection and treatment. (19402463)
2009
23
Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations. (23198051)
2009
24
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. (18470941)
2008
25
CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. (18852424)
2008
26
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. (18989382)
2008
27
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. (17718864)
2007
28
Glaucoma with aniridia and isolated congenital glaucoma in siblings: contribution and limits of genetics]. (17287671)
2007
29
Collateral vessel regression in a child with primary congenital glaucoma. (17674924)
2007
30
Congenital iris ectropion and glaucoma associated with intestinal neuronal dysplasia: a manifestation of a neural crest syndrome. (17030723)
2006
31
Chromosome 1q deletion and congenital glaucoma. (16118899)
2005
32
Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. (14640115)
2003
33
Panophthalmitis following contact diode laser cyclophotocoagulation in a patient with failed trabeculectomy and trabeculotomy for congenital glaucoma. (12642327)
2003
34
Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. (14507861)
2003
35
Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin. (12567107)
2003
36
In vivo confocal microscopy in primary congenital glaucoma with megalocornea. (11912354)
2002
37
Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma(1). (11239867)
2001
38
Molecular and clinical characterization of a patient with a chromosome 4p deletion, Wolf-Hirschhorn syndrome, and congenital glaucoma. (11262648)
2001
39
Long-term surgical and visual outcomes in primary congenital glaucoma: 360 degrees trabeculotomy versus goniotomy. (10951295)
2000
40
Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness. (10851252)
2000
41
Pattern electroretinogram and spatial contrast sensitivity in primary congenital glaucoma. (9400776)
1997
42
Evidence of HLA-linked susceptibility gene(s) in primary congenital glaucoma. (2088635)
1990
43
Two cases of hereditary keratoderma with congenital glaucoma. (2533874)
1989
44
Neovascular glaucoma and the occurrence of twin vessels in congenital arteriovenous communications of the retina. (2456906)
1988
45
Aniridia with congenital ptosis and glaucoma: a family study. (3358595)
1988
46
Glaucoma in Fuchs' heterochromic cyclitis associated with congenital Horner's syndrome. (3689736)
1987
47
Congenital ectropion uveae and glaucoma. (4015878)
1985
48
Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset. (7173860)
1982
49
Buphthalmos (congenital glaucoma) in the rat. (4810782)
1974
50
The surgical treatment of glaucoma complicating congenital aniridia. (13102552)
1952

Genetic Variations for Glaucoma, Congenital

Expression for genes affiliated with Glaucoma, Congenital

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glaucoma, Congenital

Search GEO for disease gene expression data for Glaucoma, Congenital.

Pathways for genes affiliated with Glaucoma, Congenital

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52QIAGEN
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Pathways related to Glaucoma, Congenital according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2PAX6, FOXC1

Compounds for genes affiliated with Glaucoma, Congenital

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 50PharmGKB
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Compounds related to Glaucoma, Congenital according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1quinone45 2410.4TYR, CYP1B1
2theophylline45 29 11 2412.3TYR, CYP1B1
3resveratrol45 60 11 2412.0TYR, CYP1B1
4cycloheximide458.7MYOC, CYP1B1, TYR
5arginine458.6MYOC, TYR, PAX6
6dexamethasone45 50 29 1111.5MYOC, OPTN, CYP1B1, TYR

GO Terms for genes affiliated with Glaucoma, Congenital

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16Gene Ontology
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Biological processes related to Glaucoma, Congenital according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1eye developmentGO:0016549.2PAX6, FOXC1
2lacrimal gland developmentGO:0328089.1PAX6, FOXC1
3visual perceptionGO:0076018.2PAX6, CYP1B1, TYR

Molecular functions related to Glaucoma, Congenital according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:0036909.2PAX6, FOXC1

Products for genes affiliated with Glaucoma, Congenital

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Sources for Glaucoma, Congenital

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet