MCID: PRM032

Primary Congenital Glaucoma malady

Summaries for Primary Congenital Glaucoma

Sources:
15GeneReviews, 22MalaCards
See all sources

Export this MalaCard
MalaCards: Primary Congenital Glaucoma is related to glaucoma and primary open angle glaucoma. An important gene associated with Primary Congenital Glaucoma is CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1).

GeneReviews summary for glc

Aliases & Descriptions for Primary Congenital Glaucoma

Sources:
15GeneReviews, 16GeneTests, 43UMLS
See all sources
primary congenital glaucoma 15 16 43

Related Diseases for Primary Congenital Glaucoma

Sources:
13GeneCards, 14GeneDecks
See all sources

Graphical network of the top 20 diseases related to primary congenital glaucoma:



Graphical network of diseases related to primary congenital glaucoma

Clinical Features for Primary Congenital Glaucoma

Drugs & Therapeutics for Primary Congenital Glaucoma

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
See all sources

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

Sources:
16GeneTests
See all sources

Genetic tests related to primary congenital glaucoma:

id Genetic test Affiliating Genes
1 Primary Congenital Glaucoma
clinical/research
CYP1B1, LTBP2, LTBP3

Anatomical Context for Primary Congenital Glaucoma

Phenotypes for genes affiliated with Primary Congenital Glaucoma

Publications for genes affiliated with Primary Congenital Glaucoma

Sources:
35PubMed
See all sources

Articles related to primary congenital glaucoma:

(show top 50)    (show all 57)
idTitleAuthorsYearAffiliating Genes
1Confirmation and further mapping of the GLC3C locus i n primary congenital glaucoma. (21622161)Chen X.... Sun X.2012GLC3C
2Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population. (21168818)Geyer O.... Bercovich D.2011CYP1B1, MYOC
3Overview of Cytochrome P450 1B1 gene mutations in pat ients with primary congenital glaucoma. (21854771)Li N.... Chen X.2011CYP1B1
4Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. (21850185)Kim H.J.... Kee C.2011CYP1B1, MYOC
5A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. (20660114)Chakrabarti S.... Majumder P.P.2010CYP1B1
6CYP1B1 gene analysis in primary congenital glaucoma B razilian patients: novel mutations and association with poor prognosis. (19528825)Della Paolera M.... de Melo M.B.2010CYP1B1
7Screening of CYP1B1 and MYOC in Moroccan families wit h primary congenital glaucoma: three novel mutations in CYP1B1. (20664688)Hilal L.... Berraho A.2010CYP1B1, MYOC
8Variable expressivity and high penetrance of CYP1B1 m utations associated with primary congenital glaucoma. (19744731)Suri F.... Elahi E.2009CYP1B1
9Null mutations in LTBP2 cause primary congenital glaucoma. (19361779)Ali M.... Inglehearn C.F.2009CYP1B1, LTBP2
10Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Pe tersburg (20198978)Motushchuk A.E.... Vasil'ev V.B.2009CYP1B1, MYOC, WDR36
11A clinical and molecular genetic study of German patients with primary congenital glaucoma. (19195637)Weisschuh N.... Gramer E.2009CYP1B1
12Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. (19807744)LA^pez-Garrido M.P.... Escribano J.2009CYP1B1
13Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients. (20057908)Tanwar M.... Dada R.2009CYP1B1
14CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. (19234632)Campos-Mollo E.... Escribano J.2009CYP1B1
15Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. (18622259)Choudhary D.... Schenkman J.B.2008CYP1B1
16Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico. (18414103)Zenteno J.C.... Garcia-Ortiz J.E.2008CYP1B1
17Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. (18989382)Firasat S.... Riazuddin S.2008CYP1B1
18Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. (18470941)Chavarria-Soley G.... Rautenstrauss B.2008CYP1B1
19Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. (18537981)Sivadorai P.... Kalaydjieva L.2008CYP1B1, MYOC, GLC3C
20Phylogenetic evaluation of the CYP1B1 gene in patients with primary congenital glaucoma. (17986294)Isashiki Y.... Ohba N.2008CYP1B1
21CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. (17591938)Chitsazian F.... Sarfarazi M.2007CYP1B1
22Analysis of the CYP1B1 gene mutation in primary congenital glaucoma patients of Hubei Han nationality (18070520)Jiang F.G.... Hou H.P.2007CYP1B1
23Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma. (17164573)Messina-Baas O.M.... Cuevas-Covarrubias S.A.2007CYP1B1
24Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. (17718864)Dimasi D.P.... Craig J.E.2007CYP1B1
25Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. (16384942)Chakrabarti S.... Majumder P.P.2006CYP1B1
26Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. (16490498)Alfadhli S.... Al-Awadi S.2006CYP1B1
27Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma. (16863615)Zhuo Y.H.... Ge J.2006MYOC
28Disease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans. (16963504)Achary M.S.... Nagarajaram H.A.2006CYP1B1
29Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India. (15723004)Chakrabarti S.... Ray K.2005CYP1B1, MYOC
30Myocilin gene implicated in primary congenital glaucoma. (15733270)Kaur K.... Chakrabarti S.2005CYP1B1, MYOC
31Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma. (15037581)Panicker S.G.... Hasnain S.E.2004CYP1B1
32Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. (15255109)Curry S.M.... Bejjani B.A.2004CYP1B1
33Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. (15475877)Reddy A.B.... Chakrabarti S.2004CYP1B1
34Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. (14507861)Reddy A.B.... Balasubramanian D.2003CYP1B1
35Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. (14635112)Colomb E.... Garchon H.J.2003CYP1B1
36CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. (12525557)Sitorus R.... Preising M.2003CYP1B1
37Primary 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)Soley G.C.... Rautenstrauss B.W.2003CYP1B1
38Molecular genetics of primary congenital glaucoma in Brazil. (12036985)Stoilov I.R.... Sarfarazi M.2002CYP1B1
39Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. (11980847)Panicker S.G.... Balasubramanian D.2002CYP1B1
40A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. (12372064)Belmouden A.... Garchon H.J.2002CYP1B1
41Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene. (11558822)Michels-Rautenstrauss K.G.... Rautenstrauss B.W.2001CYP1B1
42Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma(1). (11239867)Kakiuchi-Matsumoto T.... Unoki K.2001CYP1B1
43Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. (10655546)Bejjani B.A.... Lupski J.R.2000CYP1B1
44Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma. (11184479)Ohtake Y.... Mashima Y.2000CYP1B1
45Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. (10227395)Plasilova M.... Ferak V.1999CYP1B1
46Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. (9463332)Bejjani B.A.... Lupski J.R.1998CYP1B1
47Sequence 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)Stoilov I.... Sarfarazi M.1998CYP1B1
48Identification 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)Stoilov I.... Sarfarazi M.1997CYP1B1
49Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. (9382099)Jordan T.... Bhattacharya S.1997FOXC1
50A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. (8842741)Akarsu A.N.... Sarfarazi M.1996GLC3B

Expression for genes affiliated with Primary Congenital Glaucoma

Sources:
1BioGPS
See all sources
Expression patterns in normal tissues for genes affiliated with Primary Congenital Glaucoma

Pathways for genes affiliated with Primary Congenital Glaucoma

Compounds for genes affiliated with Primary Congenital Glaucoma

GO Terms for genes affiliated with Primary Congenital Glaucoma

Sources for Primary Congenital Glaucoma

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS