MCID: PRM032
MIFTS: 30

Primary Congenital Glaucoma malady

Genetic diseases, Eye diseases, Rare diseases categories
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Summaries for Primary Congenital Glaucoma

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MalaCards based summary: Primary Congenital Glaucoma is related to primary open angle glaucoma and glaucoma 3a, primary open angle, congenital, juvenile, or adult onset. An important gene associated with Primary Congenital Glaucoma is LTBP2 (latent transforming growth factor beta binding protein 2). 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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Primary Congenital Glaucoma, Aliases & Descriptions:

Name: Primary Congenital Glaucoma 19 20 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases


Related Diseases for Primary Congenital Glaucoma

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Graphical network of the top 20 diseases related to Primary Congenital Glaucoma:



Diseases related to primary congenital glaucoma

Symptoms for Primary Congenital Glaucoma

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Drugs & Therapeutics for Primary Congenital Glaucoma

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Drug clinical trials:

Search ClinicalTrials for Primary Congenital Glaucoma

Search NIH Clinical Center for Primary Congenital Glaucoma

Genetic Tests for Primary Congenital Glaucoma

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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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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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MGI Mouse Phenotypes related to Primary Congenital Glaucoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1FOXC1, MYOC, CYP1B1

Publications for Primary Congenital Glaucoma

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Articles related to Primary Congenital Glaucoma:

(show top 50)    (show all 180)
idTitleAuthorsYear
1
Differences in Optic Disc Characteristics of Primary Congenital Glaucoma, Juvenile, and Adult Onset Open Angle Glaucoma Patients. (25265002)
2014
2
Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations. (25018621)
2014
3
Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study. (24940937)
2014
4
Long-term efficacy of latanoprost in primary congenital glaucoma. (24158022)
2014
5
Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma. (24911043)
2014
6
Corneal sensitivity and morphology of the corneal subbasal nerve plexus in primary congenital glaucoma. (24480838)
2014
7
Biomechanical profile of the cornea in primary congenital glaucoma. (22937759)
2013
8
Modified trabeculotomy for primary congenital glaucoma. (24112185)
2013
9
Markedly asymmetric buphthalmos but without anisometropia in a girl with primary congenital glaucoma. (24054041)
2013
10
Confirmation and further mapping of the GLC3C locus in primary congenital glaucoma. (21622161)
2011
11
Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. (22128238)
2011
12
Surgical results in the management of advanced primary congenital glaucoma in a rural pediatric population. (20579739)
2011
13
What's your diagnosis? Bilateral newborn primary congenital glaucoma with anisocoria and megalocoria. (21425761)
2011
14
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. (20660114)
2010
15
A clinical and molecular genetic study of German patients with primary congenital glaucoma. (19195637)
2009
16
Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma. (19744731)
2009
17
Corneal anomalies in newborn primary congenital glaucoma. (19645407)
2009
18
Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. (19807744)
2009
19
Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma. (19247456)
2009
20
The spontaneous resolution of primary congenital glaucoma. (19496494)
2009
21
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. (18470941)
2008
22
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. (17718864)
2007
23
Ultrasound biomicroscopic characteristics of the anterior segment in primary congenital glaucoma. (17720567)
2007
24
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. (17591938)
2007
25
Prenatal diagnosis for primary congenital glaucoma (bupthalmous). (16941518)
2006
26
Combined trabeculotomy-trabeculectomy as a first surgical procedure for primary congenital glaucoma. (17200580)
2006
27
Gene symbol: CYP1B1. Disease: Primary congenital glaucoma. Accession #Hm0544. (17297699)
2006
28
Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. (16490498)
2006
29
Gene symbol: CYP1B1. Disease: Primary congenital glaucoma. Accession #Hd0515. (17297684)
2006
30
Primary congenital glaucoma presenting within the first three months of life in a Bedouin population: prognostic factors. (15741816)
2005
31
Newborn primary congenital glaucoma. (16382556)
2005
32
Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. (15475877)
2004
33
Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma. (15037581)
2004
34
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. (14635112)
2003
35
Molecular genetics of primary congenital glaucoma in Brazil. (12036985)
2002
36
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. (11980847)
2002
37
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. (12372064)
2002
38
Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene. (11558822)
2001
39
Primary congenital glaucoma and erupted teeth (natal teeth) in the newborn: a report of two cases. (11563786)
2001
40
Molecular genetics of primary congenital glaucoma. (11026969)
2000
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
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. (9463332)
1998
44
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
45
Ultrastructural studies of primary congenital glaucoma in rabbits. (9430063)
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
Primary congenital glaucoma clinical presentation and evaluation of modified trabeculectomy. (3508788)
1987
49
External trabeculotomy in the treatment of primary congenital glaucoma in Ghana. (6644642)
1983
50
Corneal changes in primary congenital glaucoma. (7257054)
1980

Variations for Primary Congenital Glaucoma

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Expression for genes affiliated with Primary Congenital Glaucoma

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.6LTBP2, MYOC

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

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:0076019.4WDR36, CYP1B1

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet