MCID: PRM032
MIFTS: 23

Primary Congenital Glaucoma malady

Summaries for Primary Congenital Glaucoma

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19GeneReviews, 33MalaCards
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MalaCards: Primary Congenital Glaucoma is related to primary open angle glaucoma and glaucoma, congenital. 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 brain, and related mouse phenotype vision/eye.

GeneReviews summary for glc

Aliases & Classifications for Primary Congenital Glaucoma

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19GeneReviews, 20GeneTests, 61UMLS
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Aliases & Descriptions:

primary congenital glaucoma 19 20 61


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

Drugs & Therapeutics for Primary Congenital Glaucoma

Sources:
5CenterWatch, 42NIH 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

Sources:
33MalaCards
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MalaCards organs/tissues related to Primary Congenital Glaucoma:

33
Brain

Animal Models for Primary Congenital Glaucoma or affiliated genes

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.7CYP1B1, LTBP3, MYOC, FOXC1

Publications for Primary Congenital Glaucoma

Sources:
51PubMed
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Articles related to Primary Congenital Glaucoma:

(show top 50)    (show all 174)
idTitleAuthorsYear
1
Spectral domain optical coherence tomography in children operated for primary congenital glaucoma. (23740961)
2014
2
Modified trabeculotomy for primary congenital glaucoma. (24112185)
2013
3
Novel homozygous CYP1B1 deletion in siblings with primary congenital glaucoma. (23215915)
2013
4
Combined trabeculotomy and augmented trabeculectomy in primary congenital glaucoma. (23374514)
2013
5
A case of arrested primary congenital glaucoma. (23154497)
2013
6
Failed school vision test...suspected myopia and corneal dystrophy. Late-recognized primary congenital glaucoma. (23718937)
2013
7
Ophthaproblem. Can you identify this condition? Primary congenital glaucoma. (22499817)
2012
8
Primary congenital glaucoma in the developing world. (21292107)
2011
9
Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population. (21168818)
2011
10
What's your diagnosis? Infantile primary congenital glaucoma with trisomy 21 (Down syndrome) associated with Brushfield spots. (21243979)
2011
11
What's your diagnosis? Spontaneous resolution of infantile primary congenital glaucoma. (21598875)
2011
12
Identification of differentially expressed proteins in the aqueous humor of primary congenital glaucoma. (21078314)
2011
13
Identification of novel disease gene for primary congenital glaucoma (PCG) through homozygosity mapping and next-generation sequencing. (21560857)
2011
14
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. (20660114)
2010
15
Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. (20664688)
2010
16
Primary congenital glaucoma associated with Patau syndrome with long survival. (21080618)
2010
17
A clinical and molecular genetic study of German patients with primary congenital glaucoma. (19195637)
2009
18
Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma. (19744731)
2009
19
Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. (19807744)
2009
20
Exploring the basis of sex bias in primary congenital glaucoma. (23198050)
2009
21
Long-term surgical outcomes of primary congenital glaucoma in China. (19578658)
2009
22
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. (19656777)
2009
23
The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma. (18708620)
2009
24
Phylogenetic evaluation of the CYP1B1 gene in patients with primary congenital glaucoma. (17986294)
2008
25
Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families. (18776954)
2008
26
Management of primary congenital glaucoma by trabeculectomy in Nigeria. (18318949)
2008
27
Gene symbol: CYP1B1. Disease: Primary congenital glaucoma. Accession #Hd0515. (17297684)
2006
28
Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma. (16863615)
2006
29
Disease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans. (16963504)
2006
30
Viscocanalostomy versus trabeculotomy ab externo in primary congenital glaucoma: 1-year follow-up of a prospective controlled pilot study. (16837543)
2006
31
Newborn primary congenital glaucoma. (16382556)
2005
32
Myocilin gene implicated in primary congenital glaucoma. (15733270)
2005
33
Newborn primary congenital glaucoma: 2005 update. (16382557)
2005
34
Results of the Susanna implant in patients with refractory primary congenital glaucoma. (15616507)
2004
35
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. (15255109)
2004
36
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. (14635112)
2003
37
Genetics and biochemistry of primary congenital glaucoma. (14740995)
2003
38
Molecular genetics of primary congenital glaucoma in Brazil. (12036985)
2002
39
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. (12372064)
2002
40
Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma(1). (11239867)
2001
41
Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma. (11184479)
2000
42
Prognosis of primary ab externo surgery for primary congenital glaucoma. (10365040)
1999
43
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. (9463332)
1998
44
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. (9097971)
1997
45
Time of diagnosis, reoperations and long-term results of goniotomy in the treatment of primary congenital glaucoma: a clinical study. (9112175)
1996-1997
46
Exclusion of primary congenital glaucoma (buphthalmos) from two candidate regions of chromosome arm 6p and chromosome 11. (8741877)
1996
47
Evidence of HLA-linked susceptibility gene(s) in primary congenital glaucoma. (2088635)
1990
48
Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect. (7173861)
1982
49
Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset. (7173860)
1982
50
Corneal changes in primary congenital glaucoma. (7257054)
1980

Genetic Variations for Primary Congenital Glaucoma

Expression for genes affiliated with Primary Congenital Glaucoma

Sources:
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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54Reactome
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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

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

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