MCID: PRM032
MIFTS: 26

Primary Congenital Glaucoma malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Primary Congenital Glaucoma

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MalaCards based summary: Primary Congenital Glaucoma is related to glaucoma 3a, primary open angle, congenital, juvenile, or adult onset and open-angle glaucoma. 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 60


Classifications:

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

31
Testes, Eye, Brain

Animal Models for Primary Congenital Glaucoma or affiliated genes

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MGI Mouse Phenotypes related to Primary Congenital Glaucoma:

35
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 195)
idTitleAuthorsYear
1
Surgical interventions for primary congenital glaucoma. (25636153)
2015
2
Mitochondrial transfer RNA variants and primary congenital glaucoma. (25835039)
2015
3
Outcomes of Ahmed valve implant following a failed initial trabeculotomy and trabeculectomy in refractory primary congenital glaucoma. (25624676)
2015
4
CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma. (25750510)
2015
5
Differences in Optic Disc Characteristics of Primary Congenital Glaucoma, Juvenile, and Adult Onset Open Angle Glaucoma Patients. (25265002)
2014
6
Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations. (25018621)
2014
7
Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study. (24940937)
2014
8
Results of Ahmed glaucoma valve implantation in primary congenital glaucoma. (25459201)
2014
9
Long-term efficacy of latanoprost in primary congenital glaucoma. (24158022)
2014
10
Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma. (24911043)
2014
11
Biomechanical profile of the cornea in primary congenital glaucoma. (22937759)
2013
12
Modified trabeculotomy for primary congenital glaucoma. (24112185)
2013
13
Confirmation and further mapping of the GLC3C locus in primary congenital glaucoma. (21622161)
2011
14
Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. (22128238)
2011
15
Surgical results in the management of advanced primary congenital glaucoma in a rural pediatric population. (20579739)
2011
16
What's your diagnosis? Bilateral newborn primary congenital glaucoma with anisocoria and megalocoria. (21425761)
2011
17
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. (20660114)
2010
18
A clinical and molecular genetic study of German patients with primary congenital glaucoma. (19195637)
2009
19
Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma. (19744731)
2009
20
Corneal anomalies in newborn primary congenital glaucoma. (19645407)
2009
21
Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. (19807744)
2009
22
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. (18470941)
2008
23
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. (17718864)
2007
24
Ultrasound biomicroscopic characteristics of the anterior segment in primary congenital glaucoma. (17720567)
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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.6LTBP2, MYOC

Biological processes related to Primary Congenital Glaucoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.4WDR36, CYP1B1

Products for genes affiliated with Primary Congenital Glaucoma

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  • Antibodies
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Primary Congenital Glaucoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet