MCID: PRM032
MIFTS: 26

Primary Congenital Glaucoma malady

Summaries for Primary Congenital Glaucoma

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19GeneReviews, 32MalaCards
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MalaCards: Primary Congenital Glaucoma is related to glaucoma and primary open angle glaucoma. An important gene associated with Primary Congenital Glaucoma is LTBP2 (latent transforming growth factor beta binding protein 2), and among its related pathways is Elastic fibre formation. Affiliated tissues include testes, eye and brain, and related mouse phenotype vision/eye.

GeneReviews summary for glc

Aliases & Classifications for Primary Congenital Glaucoma

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19GeneReviews, 20GeneTests, 60UMLS
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Aliases & Descriptions:

primary congenital glaucoma 19 20 60


Related Diseases for Primary Congenital Glaucoma

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



Diseases related to primary congenital glaucoma

Clinical Features for Primary Congenital Glaucoma

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Drugs & Therapeutics for Primary Congenital Glaucoma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Primary Congenital Glaucoma

Drug clinical trials:

Search ClinicalTrials for Primary Congenital Glaucoma

Search NIH Clinical Center for Primary Congenital Glaucoma

Search CenterWatch for Primary Congenital Glaucoma

Genetic Tests for Primary Congenital Glaucoma

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20GeneTests
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Genetic tests related to Primary Congenital Glaucoma:

id Genetic test Affiliating Genes
1 Primary Congenital Glaucoma20 LTBP2

Anatomical Context for Primary Congenital Glaucoma

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32MalaCards
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MalaCards organs/tissues related to Primary Congenital Glaucoma:

32
Testes, Eye, Brain

Animal Models for Primary Congenital Glaucoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Primary Congenital Glaucoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.7CYP1B1, LTBP3, MYOC, FOXC1

Publications for Primary Congenital Glaucoma

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50PubMed
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Articles related to Primary Congenital Glaucoma:

(show top 50)    (show all 174)
idTitleAuthorsYear
1
Biomechanical profile of the cornea in primary congenital glaucoma. (22937759)
2013
2
Modified trabeculotomy for primary congenital glaucoma. (24112185)
2013
3
Combined trabeculotomy and augmented trabeculectomy in primary congenital glaucoma. (23374514)
2013
4
A case of arrested primary congenital glaucoma. (23154497)
2013
5
Surgical management in primary congenital glaucoma: four debates. (23762530)
2013
6
Failed school vision test...suspected myopia and corneal dystrophy. Late-recognized primary congenital glaucoma. (23718937)
2013
7
Mitochondrial DNA nucleotide changes in primary congenital glaucoma patients. (23401651)
2013
8
Retinal intrinsic optical signals in a cat model of primary congenital glaucoma. (22395886)
2012
9
Clinical effect of improved viscocanalostomy for the treatment of primary congenital glaucoma. (22937506)
2012
10
Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. (22128238)
2011
11
Surgical results in the management of advanced primary congenital glaucoma in a rural pediatric population. (20579739)
2011
12
Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population. (21168818)
2011
13
Outcomes of goniotomy for primary congenital glaucoma in East Africa. (21292108)
2011
14
The effect of dorzolamide 2% on circadian intraocular pressure in cats with primary congenital glaucoma. (21923823)
2011
15
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. (20660114)
2010
16
Novel gene mutations causing primary congenital glaucoma. (22737346)
2010
17
Corneal anomalies in newborn primary congenital glaucoma. (19645407)
2009
18
Chronic newborn primary congenital glaucoma with secondary lens subluxation. (19645394)
2009
19
Long-term surgical outcomes of primary congenital glaucoma in China. (19578658)
2009
20
Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg]. (20198978)
2009
21
Primary congenital glaucoma: making strides in genetic testing, early detection and treatment. (19402463)
2009
22
Phylogenetic evaluation of the CYP1B1 gene in patients with primary congenital glaucoma. (17986294)
2008
23
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. (18989382)
2008
24
Management of primary congenital glaucoma by trabeculectomy in Nigeria. (18318949)
2008
25
Analysis of the CYP1B1 gene mutation in primary congenital glaucoma patients of Hubei Han nationality]. (18070520)
2007
26
A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). (17224759)
2007
27
Prenatal diagnosis for primary congenital glaucoma (bupthalmous). (16941518)
2006
28
Gene symbol: CYP1B1. Disease: Primary congenital glaucoma. Accession #Hd0515. (17297684)
2006
29
What's your diagnosis? Haab's striae secondary to late-recognized primary congenital glaucoma. (16915896)
2006
30
Viscocanalostomy versus trabeculotomy ab externo in primary congenital glaucoma: 1-year follow-up of a prospective controlled pilot study. (16837543)
2006
31
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. (16735994)
2006
32
A population-based case-control study of isolated primary congenital glaucoma. (16652361)
2006
33
Newborn primary congenital glaucoma: 2005 update. (16382557)
2005
34
Coding sequence analysis of CYP1B1 exon III in the Polish population of patients with primary congenital and juvenile glaucoma]. (15636228)
2004
35
Primary congenital glaucoma: 2004 update. (15478740)
2004
36
Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. (14640115)
2003
37
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. (12525557)
2003
38
Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. (14507861)
2003
39
Molecular genetics of primary congenital glaucoma in Brazil. (12036985)
2002
40
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. (11980847)
2002
41
Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma. (11184479)
2000
42
Long-term surgical and visual outcomes in primary congenital glaucoma: 360 degrees trabeculotomy versus goniotomy. (10951295)
2000
43
Prognosis of primary ab externo surgery for primary congenital glaucoma. (10365040)
1999
44
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. (10227395)
1999
45
Late-onset unilateral primary developmental glaucoma associated with iridotrabecular dysgenesis, congenital ectropion uveae and thickened corneal nerves: a new neural crest syndrome? (10929982)
1999
46
Time of diagnosis, reoperations and long-term results of goniotomy in the treatment of primary congenital glaucoma: a clinical study. (9112175)
1996-1997
47
A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma. (8946299)
1996
48
Evidence of HLA-linked susceptibility gene(s) in primary congenital glaucoma. (2088635)
1990
49
Megalocornea and persistent hyperplastic primary vitreous masquerading as congenital glaucoma. (3232519)
1988
50
Primary congenital glaucoma--a survey. (4544900)
1974

Genetic Variations for Primary Congenital Glaucoma

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Expression for genes affiliated with Primary Congenital Glaucoma

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

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

Pathways for genes affiliated with Primary Congenital Glaucoma

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53Reactome
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Pathways related to Primary Congenital Glaucoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.7LTBP3, LTBP2

Compounds for genes affiliated with Primary Congenital Glaucoma

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GO Terms for genes affiliated with Primary Congenital Glaucoma

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16Gene Ontology
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Cellular components related to Primary Congenital Glaucoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700629.6LTBP2, MYOC

Biological processes related to Primary Congenital Glaucoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor signaling pathwayGO:0071799.7LTBP3, LTBP2

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

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:0198389.7LTBP3, LTBP2

Products for genes affiliated with Primary Congenital Glaucoma

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  • Antibodies
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  • Antibodies

Sources for Primary Congenital Glaucoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet