MCID: PRM032
MIFTS: 26

Primary Congenital Glaucoma malady

Summaries for Primary Congenital Glaucoma

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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
Markedly asymmetric buphthalmos but without anisometropia in a girl with primary congenital glaucoma. (24054041)
2013
2
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. (23218701)
2013
3
A retrospective and consecutive study of viscocanalostomy versus trabeculectomy for primary congenital glaucoma. (23595370)
2013
4
Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma. (23378721)
2013
5
Ectopia lentis associated with primary congenital glaucoma. (23483508)
2013
6
Comparison of dynamic contour tonometry and Goldmann applanation tonometry in relation to central corneal thickness in primary congenital glaucoma. (22555897)
2013
7
A case of primary congenital glaucoma. (24349673)
2013
8
Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma. (23218183)
2013
9
Late-recognized primary congenital glaucoma. (23614468)
2013
10
What's your diagnosis? Bilateral newborn primary congenital glaucoma with anisocoria and megalocoria. (21425761)
2011
11
Effects of unilateral topical administration of 0.5% tropicamide on anterior segment morphology and intraocular pressure in normal cats and cats with primary congenital glaucoma. (21923827)
2011
12
Long-term outcome of primary congenital glaucoma. (21596293)
2011
13
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. (21850185)
2011
14
Mitochondrial DNA analysis in primary congenital glaucoma. (20361014)
2010
15
Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma. (19247456)
2009
16
The spontaneous resolution of primary congenital glaucoma. (19496494)
2009
17
Null mutations in LTBP2 cause primary congenital glaucoma. (19361779)
2009
18
Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients. (20057908)
2009
19
Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study. (19597567)
2009
20
Outcomes of Ahmed glaucoma valve implantation in children with primary congenital glaucoma. (19901208)
2009
21
Rhegmatogenous retinal detachment associated with primary congenital glaucoma. (17898936)
2008
22
Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. (18622259)
2008
23
CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. (18852424)
2008
24
Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico. (18414103)
2008
25
Ultrasound biomicroscopic characteristics of the anterior segment in primary congenital glaucoma. (17720567)
2007
26
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. (17591938)
2007
27
A case of primary congenital glaucoma: a diagnostic dilemma. (17400138)
2007
28
Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma. (17164573)
2007
29
Combined trabeculotomy-trabeculectomy as a first surgical procedure for primary congenital glaucoma. (17200580)
2006
30
Gene symbol: CYP1B1. Disease: Primary congenital glaucoma. Accession #Hm0544. (17297699)
2006
31
Primary congenital glaucoma presenting within the first three months of life in a Bedouin population: prognostic factors. (15741816)
2005
32
Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India. (15723004)
2005
33
Beta 2-adrenergic receptor polymorphism and susceptibility to primary congenital and primary open angle glaucoma. (13680034)
2003
34
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
35
In vivo confocal microscopy in primary congenital glaucoma with megalocornea. (11912354)
2002
36
Results of the modified trabeculotomy in the treatment of primary congenital glaucoma. (12075295)
2002
37
Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene. (11558822)
2001
38
Primary congenital glaucoma and erupted teeth (natal teeth) in the newborn: a report of two cases. (11563786)
2001
39
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. (11527932)
2001
40
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. (9497261)
1998
41
Ultrastructural studies of primary congenital glaucoma in rabbits. (9430063)
1997
42
Pattern electroretinogram and spatial contrast sensitivity in primary congenital glaucoma. (9400776)
1997
43
Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. (9382099)
1997
44
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. (8842741)
1996
45
Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. (8586416)
1995
46
Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance. (2676634)
1989
47
Primary congenital glaucoma. (2718897)
1989
48
Primary congenital glaucoma: twenty years experience. (3436747)
1987
49
Primary congenital glaucoma in a patient with trisomy 2q (q33----qter) and monosomy 9p(p24----pter). Case report. (3827707)
1987
50
External trabeculotomy in the treatment of primary congenital glaucoma in Ghana. (6644642)
1983

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

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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
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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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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