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GLC3A
MCID: GLC097
MIFTS: 63

Glaucoma 3, Primary Congenital, a (GLC3A)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Glaucoma 3, Primary Congenital, a

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MalaCards integrated aliases for Glaucoma 3, Primary Congenital, a:

Name: Glaucoma 3, Primary Congenital, a 57 73 5 71
Buphthalmos 57 11 58 73 14 75 33
Glaucoma, Congenital 57 19 75 53 38
Congenital Glaucoma 58 73 28 5 31
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 57 73 28
Glaucoma, Primary Open Angle, Juvenile-Onset 73 5
Primary Congenital Glaucoma 58 71
Buphthalmia 58 33
Glc3a 57 73
Glc3 57 73
Glaucoma, Primary Open Angle, Adult-Onset 73
Glaucoma, Congenital, Primary, Type 3a 38
Primary Infantile Glaucoma Type 3a 73
Glaucoma 3a, Primary Congenital 12
Primary Congenital Glaucoma 3a 73
Simple Buphthalmos 11
Hydrophthalmos 71
Cystic Eyeball 33
Buphthalmus 58

Characteristics:


Inheritance:

Glaucoma 3, Primary Congenital, a: Autosomal recessive 57
Congenital Glaucoma: Autosomal dominant,Autosomal recessive 58

Prevelance:

Congenital Glaucoma: 1-9/100000 (Europe, Belgium, France, Malta, Italy, Netherlands, Spain, United Kingdom, Ukraine, Switzerland, Poland, Ireland, Germany, Croatia, Austria) 1-9/1000000 (Norway, Portugal) 58

Age Of Onset:

Congenital Glaucoma: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:11211
OMIM® 57 231300
ICD9CM 34 743.21
MeSH 43 D005901
SNOMED-CT 68 204116009
ICD10 31 Q15.0
ICD10 via Orphanet 32 Q15.0
UMLS via Orphanet 72 C0020302
Orphanet 58 ORPHA98976
ICD11 33 1106186590
UMLS 71 C0020302 C0311251 C1533041 more
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Summaries for Glaucoma 3, Primary Congenital, a

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Disease Ontology: 11 A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.

MalaCards based summary: Glaucoma 3, Primary Congenital, a, also known as buphthalmos, is related to gillespie syndrome and walker-warburg syndrome, and has symptoms including early vision loss An important gene associated with Glaucoma 3, Primary Congenital, a is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1), and among its related pathways/superpathways are Diseases of glycosylation and Diseases associated with O-glycosylation of proteins. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotypes are glaucoma and nevus flammeus

OMIM®: 57 Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years of age), increased intraocular pressure, increased corneal diameter, enlarged globe, Haab striae (breaks in Descemet membrane), corneal edema, and optic nerve head cupping. Congenital glaucoma is a chronic disease and a serious cause of blindness worldwide (summary by Azmanov et al., 2011). (231300) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.

Orphanet: 58 A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema.

Wikipedia 75 Buphthalmos: Buphthalmos (plural: buphthalmoses) is enlargement of the eyeball and is most commonly seen in infants... more...

Glaucoma, congenital: Primary juvenile glaucoma is glaucoma that develops due to ocular hypertension and is evident either at... more...
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Related Diseases for Glaucoma 3, Primary Congenital, a

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Diseases in the Juvenile Glaucoma family:

Glaucoma 3, Primary Congenital, a Glaucoma 3, Primary Infantile, B
Glaucoma 3, Primary Congenital, C Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, E Primary Congenital Glaucoma
Glaucoma Type 1c Glaucoma, Hereditary
Glaucoma, Hereditary Adult Type 1a Glaucoma, Hereditary Juvenile Type 1b
Glaucoma, Primary Infantile Type 3a Primary Early-Onset Glaucoma
Secondary Early-Onset Glaucoma

Diseases related to Glaucoma 3, Primary Congenital, a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 459)
# Related Disease Score Top Affiliating Genes
1 gillespie syndrome 31.9 PITX2 PAX6 FOXC1
2 walker-warburg syndrome 31.3 POMT2 POMT1 FKTN DPM3 DAG1 B3GNT2
3 aniridia 1 31.2 PITX2 PAX6 MYOC MAB21L1 LTBP3 LTBP2
4 open-angle glaucoma 31.1 WDR36 OPTN MYOC FOXC1 CYP1B1
5 glaucoma 3, primary infantile, b 31.1 TEK LTBP2 CYP1B1
6 myopia 30.7 PAX6 MYOC LTBP2 ADAMTS10
7 intraocular pressure quantitative trait locus 30.6 WDR36 PITX2 PAX6 OPTN MYOC LTBP2
8 glaucoma 1, open angle, a 30.6 OPTN MYOC CYP1B1
9 microphthalmia, isolated 2 30.6 WDR36 PAX6 MYOC CYP1B1
10 isolated ectopia lentis 30.5 LTBP3 LTBP2 ADAMTS10
11 primary angle-closure glaucoma 30.4 WDR36 OPTN MYOC LTBP2 CYP1B1
12 megalocornea 30.4 PITX2 MYOC LTBP3 LTBP2 FOXC1 CYP1B1
13 anterior segment dysgenesis 5 30.3 PAX6 CYP1B1
14 otopalatodigital syndrome, type ii 30.3 PITX2 FOXC1
15 excessive tearing 30.3 WDR36 MYOC LTBP2 FOXC1 CYP1B1
16 corneal disease 30.2 PITX2 PAX6 FOXE3 FOXC1 B3GLCT
17 persistent hyperplastic primary vitreous 30.2 PITX2 PAX6 FOXC1
18 corneal staphyloma 30.2 FOXE3 B3GLCT
19 glaucoma, normal tension 30.2 WDR36 OPTN MYOC LTBP2 FOXC1 CYP1B1
20 coloboma of macula 30.2 PITX2 PAX6 MAB21L1 FOXE3 FOXC1 CYP1B1
21 hydrophthalmos 30.2 WDR36 POMT2 POMT1 PITX2 PAX6 MYOC
22 eye disease 30.1 WDR36 TEK PITX2 PAX6 OPTN MYOC
23 muscular dystrophy-dystroglycanopathy , type a, 1 30.1 POMT2 POMT1 FKTN
24 congenital aphakia 30.1 PAX6 FOXE3
25 axenfeld-rieger syndrome, type 3 30.1 PITX2 PAX6 FOXE3 FOXC1
26 corneal edema 30.1 TEK PITX2 MYOC LTBP2 CYP1B1
27 steroid-induced glaucoma 30.1 WDR36 OPTN MYOC FOXC1 CYP1B1
28 ocular pigment dispersion with or without glaucoma 30.0 WDR36 PITX2 MYOC CYP1B1
29 primary congenital glaucoma 30.0 WDR36 TEK PITX2 PAX6 OPTN MYOC
30 anterior segment dysgenesis 1 30.0 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
31 lens subluxation 29.9 PAX6 LTBP3 LTBP2 FOXE3 ADAMTS10
32 sclerocornea 29.8 PITX2 PAX6 FOXE3 FOXC1 CYP1B1 B3GLCT
33 axenfeld-rieger syndrome 29.8 WDR36 PITX2 PAX6 MYOC LTBP3 LTBP2
34 microcephaly 29.8 POMT1 PITX2 PAX6 MAB21L1 FOXC1 FKTN
35 keratitis, hereditary 29.7 PITX2 PAX6 OPTN MYOC FOXE3 FOXC1
36 glaucoma, primary open angle 29.7 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
37 optic nerve disease 29.6 WDR36 OPTN MYOC
38 juvenile glaucoma 29.5 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
39 anterior segment dysgenesis 29.3 WDR36 PITX2 PAX6 MYOC LTBP3 LTBP2
40 peters-plus syndrome 29.1 POMT2 POMT1 PITX2 PAX6 MYOC LTBP3
41 glaucoma 1, open angle, j 11.7
42 glaucoma 1, open angle, d 11.7
43 glaucoma 1, open angle, k 11.6
44 glaucoma 1, open angle, f 11.6
45 diabetes mellitus, neonatal, with congenital hypothyroidism 11.4
46 friedreich ataxia and congenital glaucoma 11.2
47 insulinomatosis and diabetes mellitus 11.1
48 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.1
49 fryns microphthalmia syndrome 11.1
50 pediatric-onset glaucoma of genetic origin 11.1

Graphical network of the top 20 diseases related to Glaucoma 3, Primary Congenital, a:



Diseases related to Glaucoma 3, Primary Congenital, a
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Symptoms & Phenotypes for Glaucoma 3, Primary Congenital, a

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Human phenotypes related to Glaucoma 3, Primary Congenital, a:

58 30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000501
2 nevus flammeus 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001052
3 retinal detachment 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000541
4 visual loss 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000572
5 buphthalmos 30 HP:0000557
6 ocular hypertension 30 HP:0007906
7 late onset congenital glaucoma 30 HP:0008041

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
buphthalmos
late onset congenital glaucoma
ocular globe large
increased intraocular pressure
early onset open-angle glaucoma

Clinical features from OMIM®:

231300 (Updated 08-Dec-2022)

Symptoms:

11
  • • early vision loss

GenomeRNAi Phenotypes related to Glaucoma 3, Primary Congenital, a according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 ADAMTS10 B3GLCT B3GNT2 CYP1B1 DAG1 DPM3
2 no effect GR00402-S-2 10.13 ADAMTS10 B3GNT2 CYP1B1 DAG1 FKTN FOXC1

MGI Mouse Phenotypes related to Glaucoma 3, Primary Congenital, a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.1 B3GLCT B3GNT2 DAG1 FKTN FOXC1 FOXE3
2 muscle MP:0005369 9.91 ADAMTS10 DAG1 FKTN FOXC1 FOXE3 PAX6
3 vision/eye MP:0005391 9.83 ADAMTS10 B3GLCT CYP1B1 DAG1 FOXC1 FOXE3
4 embryo MP:0005380 9.81 DAG1 FKTN FOXC1 PAX6 PITX2 POMT1
5 pigmentation MP:0001186 9.77 B3GLCT FOXC1 MAB21L1 PAX6 PITX2
6 mortality/aging MP:0010768 9.53 ADAMTS10 B3GLCT DAG1 DPM3 FKTN FOXC1
Sources

Drugs & Therapeutics for Glaucoma 3, Primary Congenital, a

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Drugs for Glaucoma 3, Primary Congenital, a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
2
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
3
Travoprost Approved Phase 3 157283-68-6 5282226
4
Timolol Approved Phase 3 26839-75-8 5478 33624
5 Ophthalmic Solutions Phase 3
6 Pharmaceutical Solutions Phase 3
7 Neurotransmitter Agents Phase 3
8 Adrenergic beta-Antagonists Phase 3
9 Adrenergic Antagonists Phase 3
10 Adrenergic Agents Phase 3
11 Anti-Arrhythmia Agents Phase 3
12 Antihypertensive Agents Phase 3
13
Mitomycin Approved 50-07-7 5746
14
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
15 Anti-Bacterial Agents
16 Alkylating Agents
17 Antibiotics, Antitubercular
18 Endothelial Growth Factors
19 Mitogens

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Comparison of the Ahmed Glaucoma Valve FP7 and FP8 in Pediatric Glaucoma: a Randomized Clinical Trial. Unknown status NCT01494974 Phase 4
2 A 3 Month, Multicenter, Double-Masked Safety and Efficacy Study of Travoprost Ophthalmic Solution, 0.004% Compared to Timolol (0.5% or 0.25%) in Pediatric Glaucoma Patients Completed NCT01652664 Phase 3 Travoprost 0.004% PQ ophthalmic solution;Timolol, 0.5% or 0.25% ophthalmic solution;Travoprost Vehicle
3 Masked, Randomized, Single-site, Crossover Study to Determine the Safety and Tolerability of 2 Concentrations of QLS-101 Dosed for 14 Days in Adult Subjects With Sturge-Weber Syndrome (SWS)-Related Glaucoma Due to Elevated Episcleral Venous Pressure (EVP) Completed NCT04947124 Phase 2 QLS-101ophthalmic solution 1%;QLS-101ophthalmic solution 2%
4 Comparative Evaluation of Combined Trabeculotomy-trabeculectomy Versus Combined Trabeculotomy-trabeculectomy With Subconjunctival Implantation of Collagen Matrix Implant for Primary Congenital Glaucoma. Unknown status NCT02121171 Phase 1
5 Comparison Between The Outcome of Deep Sclerectomy and Traditional Trabeculotomy and Trabeculectomy Surgeries in Congenital Glaucoma Unknown status NCT01460017 Phase 1
6 Histopathological Examination of Iris Tissue in Primary Congenital Glaucoma Unknown status NCT04079725
7 Genetic Testing in Primary Congenital Glaucoma Patients Unknown status NCT01136460
8 Study of Gene, Inheritance Pattern and Genotype - Phenotype Correlations in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
9 Histopathological Examination of Iris Tissue in Buphthalmos Completed NCT04011878
10 Microcatheter Assisted Circumferential Trabeculotomy in Congenital Glaucoma Completed NCT04116450
11 Surgical Outcomes of Visco-Circumferential-Suture-Trabeculotomy in Primary Congenital Glaucoma: A 3-year Randomized Controlled Study Completed NCT04683289
12 Randomized Controlled Study to Evaluate Safety and Efficacy of Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Completed NCT03541551
13 A Prospective Open-label, Multicenter Clinical Investigation to Assess the Safety and Performance of ARGOS-IO System in Patients Undergoing Implantation of a Boston Keratoprosthesis (BKPro) Completed NCT02945176
14 Endoscopic Goniotomy for Infantile Glaucoma Completed NCT00338533
15 Long Term Evaluation of Primary Congenital Glaucoma Management In Sohag University Hospital Recruiting NCT04949555
16 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Active, not recruiting NCT03016156
17 Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France Active, not recruiting NCT03077789
18 INTEGRAL Study: A Longitudinal Study of Surgeries and Lasers in Glaucoma: Long-term Results and Success Predictors Analysed From a Large-scale Retrospective and Prospective Glaucoma Register Enrolling by invitation NCT04381611
19 Long Term Surgical Outcomes of Viscotrabeculotomy in Pediatric Glaucoma Following Cataract Surgery Not yet recruiting NCT05011747
20 Surgery for Primary Congenital Glaucoma in Neonates:Randomized Controlled Study. Not yet recruiting NCT04709497
21 Evaluation of Primary Congenital Glaucoma Management at Asyut University Hospital Not yet recruiting NCT05205122
22 Kahook Dual Blade Ab-interno Trabeculotomy Versus ab Externo Viscotrabeculotomy in Primary Congenital Glaucoma Not yet recruiting NCT05115708
23 Estimation of Vascular Endothelial Growth Factor (VEGF) in Iris Tissue in Primary Congenital Glaucoma Not yet recruiting NCT05484050
24 Comparison of Surgical Treatment Options for Primary Congenital and Developmental Glaucomas Not yet recruiting NCT04647929

Search NIH Clinical Center for Glaucoma 3, Primary Congenital, a

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Genetic Tests for Glaucoma 3, Primary Congenital, a

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Genetic tests related to Glaucoma 3, Primary Congenital, a:

# Genetic test Affiliating Genes
1 Congenital Glaucoma 28
2 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 28
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Anatomical Context for Glaucoma 3, Primary Congenital, a

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Organs/tissues related to Glaucoma 3, Primary Congenital, a:

MalaCards : Eye, Endothelial, Retina, Liver, Smooth Muscle, Skin, Brain
Sources

Publications for Glaucoma 3, Primary Congenital, a

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Articles related to Glaucoma 3, Primary Congenital, a:

(show top 50) (show all 2304)
# Title Authors PMID Year
1
Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. 53 62 57 5
19807744 2009
2
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. 53 62 57 5
18537981 2008
3
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 53 62 57 5
15342693 2004
4
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. 53 62 57 5
12372064 2002
5
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. 53 62 57 5
10227395 1999
6
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. 53 62 57 5
9463332 1998
7
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. 53 62 57 5
9097971 1997
8
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. 62 57 5
21081970 2011
9
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. 62 57 5
19643970 2010
10
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. 53 62 5
19234632 2009
11
Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico. 53 62 5
18414103 2008
12
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. 53 62 5
16735994 2006
13
Myocilin gene implicated in primary congenital glaucoma. 53 62 57
15733270 2005
14
Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma. 53 62 5
15037581 2004
15
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. 53 62 5
15255109 2004
16
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. 53 62 5
11774072 2002
17
Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness. 53 62 5
10851252 2000
18
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. 53 62 57
10655546 2000
19
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. 53 62 5
9497261 1998
20
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes. 62 5
32832252 2020
21
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. 62 5
28448622 2017
22
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark. 62 5
27820421 2016
23
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. 62 5
27272408 2016
24
Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases. 62 5
27243976 2016
25
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent. 62 5
27508083 2016
26
Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma. 62 57
25527694 2015
27
CYP1B1 gene mutations with incomplete penetrance in a Chinese pedigree with primary congenital glaucoma: a case report and review of literatures. 62 5
26550445 2015
28
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma. 62 5
25091052 2015
29
[Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report]. 62 5
25109919 2014
30
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. 62 57
25093588 2014
31
Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma. 62 5
23218183 2013
32
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. 62 5
23218701 2013
33
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population. 62 5
23922489 2013
34
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma. 62 5
21854771 2011
35
CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited. 62 5
21600657 2011
36
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. 62 5
21850185 2011
37
Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma. 62 5
19744731 2009
38
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. 62 57
17718864 2007
39
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. 62 5
17591938 2007
40
Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. 62 57
16384942 2006
41
Molecular basis of Peters anomaly in Saudi Arabia. 62 5
15621878 2004
42
Molecular genetics of primary congenital glaucoma in Brazil. 62 5
12036985 2002
43
Serial axial length measurements in congenital glaucoma. 62 57
11730663 2001
44
Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. 62 57
9463798 1998
45
Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. 62 57
8586416 1995
46
Further analysis of familial transmission of congenital glaucoma. 62 57
6650499 1983
47
Heterogeneity in nonsyndromal congenital glaucoma. 62 57
7091200 1982
48
Congenital glaucoma in Gypsies from Slovakia. 62 57
7129458 1982
49
Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect. 62 57
7173861 1982
50
Segregation analysis of congenital glaucoma: approach by two differential models. 62 57
7211844 1981
Sources

Variations for Glaucoma 3, Primary Congenital, a

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ClinVar genetic disease variations for Glaucoma 3, Primary Congenital, a:

5 (show top 50) (show all 177)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP1B1 NM_000104.4(CYP1B1):c.694G>C (p.Gly232Arg) SNV Pathogenic
 7740 rs104893628 GRCh37: 2:38301838-38301838
GRCh38: 2:38074695-38074695
2 CYP1B1 NM_000104.4(CYP1B1):c.174del (p.Pro58_Leu59insTer) DEL Pathogenic
Pathogenic
 7742 GRCh37: 2:38302358-38302358
GRCh38: 2:38075215-38075215
3 CYP1B1 NM_000104.4(CYP1B1):c.1267A>T (p.Asn423Tyr) SNV Pathogenic
Pathogenic
 7743 rs104893629 GRCh37: 2:38298230-38298230
GRCh38: 2:38071087-38071087
4 CYP1B1 NM_000104.4(CYP1B1):c.783C>A (p.Phe261Leu) SNV Pathogenic
 30223 rs1558603396 GRCh37: 2:38301749-38301749
GRCh38: 2:38074606-38074606
5 CYP1B1 NM_000104.4(CYP1B1):c.1093G>T (p.Gly365Trp) SNV Pathogenic
 7732 rs55771538 GRCh37: 2:38298404-38298404
GRCh38: 2:38071261-38071261
6 LTBP2 NM_000428.3(LTBP2):c.5376del (p.Cys1793fs) DEL Pathogenic
 126959 rs137854895 GRCh37: 14:74967677-74967677
GRCh38: 14:74500974-74500974
7 CYP1B1 NM_000104.4(CYP1B1):c.-285C>T SNV Pathogenic
 813357 rs1573277080 GRCh37: 2:38303205-38303205
GRCh38: 2:38076063-38076063
8 CYP1B1 NM_000104.4(CYP1B1):c.1044-3C>G SNV Pathogenic
 973773 rs761216127 GRCh37: 2:38298456-38298456
GRCh38: 2:38071313-38071313
9 CYP1B1 NM_000104.4(CYP1B1):c.1460T>C (p.Leu487Pro) SNV Pathogenic
 973774 rs1682415237 GRCh37: 2:38298037-38298037
GRCh38: 2:38070894-38070894
10 CYP1B1 NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del) DEL Pathogenic
 813355 rs751768343 GRCh37: 2:38297956-38297961
GRCh38: 2:38070813-38070818
11 CYP1B1 NM_000104.4(CYP1B1):c.434_443del (p.Arg145fs) DEL Pathogenic
 1120045 GRCh37: 2:38302089-38302098
GRCh38: 2:38074946-38074955
12 CYP1B1 NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu) SNV Pathogenic
Uncertain Significance
 30224 rs201824781 GRCh37: 2:38302377-38302377
GRCh38: 2:38075234-38075234
13 CYP1B1 NM_000104.4(CYP1B1):c.1063_1075del (p.Arg355fs) DEL Pathogenic
 417858 rs1064792896 GRCh37: 2:38298422-38298434
GRCh38: 2:38071279-38071291
14 CYP1B1 NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys) SNV Pathogenic
 335952 rs148542782 GRCh37: 2:38298329-38298329
GRCh38: 2:38071186-38071186
15 CYP1B1 NM_000104.4(CYP1B1):c.535del (p.Ala179fs) DEL Pathogenic
Pathogenic
 523943 rs771076928 GRCh37: 2:38301997-38301997
GRCh38: 2:38074854-38074854
16 CYP1B1 NM_000104.4(CYP1B1):c.1390dup (p.Ser464fs) DUP Pathogenic
 1324202 GRCh37: 2:38298106-38298107
GRCh38: 2:38070963-38070964
17 CYP1B1 NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) SNV Pathogenic
 7733 rs28936701 GRCh37: 2:38298092-38298092
GRCh38: 2:38070949-38070949
18 CYP1B1 NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs) DEL Pathogenic
Pathogenic
 282564 rs72549380 GRCh37: 2:38298421-38298433
GRCh38: 2:38071278-38071290
19 CYP1B1 NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) SNV Pathogenic
Pathogenic
Pathogenic
 7730 rs28936700 GRCh37: 2:38302350-38302350
GRCh38: 2:38075207-38075207
20 CYP1B1 NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) SNV Pathogenic
Pathogenic
Pathogenic
 7737 rs72549387 GRCh37: 2:38302361-38302361
GRCh38: 2:38075218-38075218
21 CYP1B1 NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) DUP Pathogenic
Pathogenic
 68466 rs587778873 GRCh37: 2:38298287-38298288
GRCh38: 2:38071144-38071145
22 CYP1B1 NM_000104.4(CYP1B1):c.868dup (p.Arg290fs) DUP Pathogenic
Pathogenic
 68468 rs587778875 GRCh37: 2:38301663-38301664
GRCh38: 2:38074520-38074521
23 CYP1B1 NM_000104.4(CYP1B1):c.1302G>A (p.Trp434Ter) SNV Pathogenic
 456638 rs893198212 GRCh37: 2:38298195-38298195
GRCh38: 2:38071052-38071052
24 CYP1B1 NM_000104.4(CYP1B1):c.1345del (p.Asp449fs) DEL Pathogenic
 456639 rs749073455 GRCh37: 2:38298152-38298152
GRCh38: 2:38071009-38071009
25 CYP1B1 NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) SNV Pathogenic
Pathogenic/Likely Pathogenic
 7735 rs55989760 GRCh37: 2:38298338-38298338
GRCh38: 2:38071195-38071195
26 CYP1B1 NM_000104.4(CYP1B1):c.1090G>A (p.Val364Met) SNV Pathogenic
 1339668 GRCh37: 2:38298407-38298407
GRCh38: 2:38071264-38071264
27 CYP1B1 NM_000104.4(CYP1B1):c.55C>T (p.Gln19Ter) SNV Pathogenic
 1442930 GRCh37: 2:38302477-38302477
GRCh38: 2:38075334-38075334
28 CYP1B1 NM_000104.4(CYP1B1):c.1063C>T (p.Arg355Ter) SNV Pathogenic
 1412564 GRCh37: 2:38298434-38298434
GRCh38: 2:38071291-38071291
29 CYP1B1 NM_000104.4(CYP1B1):c.840C>A (p.Cys280Ter) SNV Pathogenic
 1076484 GRCh37: 2:38301692-38301692
GRCh38: 2:38074549-38074549
30 CYP1B1 NM_000104.4(CYP1B1):c.1331G>A (p.Arg444Gln) SNV Pathogenic
 845455 rs72549376 GRCh37: 2:38298166-38298166
GRCh38: 2:38071023-38071023
31 CYP1B1 NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer) DEL Pathogenic
Likely Pathogenic
 265390 rs766425037 GRCh37: 2:38301702-38301702
GRCh38: 2:38074559-38074559
32 CYP1B1 NM_000104.4(CYP1B1):c.1044-2A>G SNV Likely Pathogenic
 1339135 GRCh37: 2:38298455-38298455
GRCh38: 2:38071312-38071312
33 CYP1B1 NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser) SNV Likely Pathogenic
 632362 rs777678299 GRCh37: 2:38301547-38301547
GRCh38: 2:38074404-38074404
34 CYP1B1 NM_000104.4(CYP1B1):c.710C>A (p.Ala237Glu) SNV Likely Pathogenic
 1338800 GRCh37: 2:38301822-38301822
GRCh38: 2:38074679-38074679
35 CYP1B1 NM_000104.4(CYP1B1):c.1198C>T (p.Pro400Ser) SNV Likely Pathogenic
 1331361 GRCh37: 2:38298299-38298299
GRCh38: 2:38071156-38071156
36 CYP1B1 NM_000104.4(CYP1B1):c.1325del (p.Pro442fs) DEL Likely Pathogenic
 1687366 GRCh37: 2:38298172-38298172
GRCh38: 2:38071029-38071029
37 CYP1B1 NM_000104.4(CYP1B1):c.349C>T (p.Arg117Trp) SNV Likely Pathogenic
 813356 rs944452644 GRCh37: 2:38302183-38302183
GRCh38: 2:38075040-38075040
38 CYP1B1 NM_000104.4(CYP1B1):c.975_978del (p.Asp326fs) DEL Likely Pathogenic
 800862 rs1573274915 GRCh37: 2:38301554-38301557
GRCh38: 2:38074411-38074414
39 CYP1B1 NM_000104.4(CYP1B1):c.1081G>T (p.Asp361Tyr) SNV Likely Pathogenic
 1065602 GRCh37: 2:38298416-38298416
GRCh38: 2:38071273-38071273
40 CYP1B1 NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys) SNV Likely Pathogenic
 1489392 GRCh37: 2:38298395-38298395
GRCh38: 2:38071252-38071252
41 CYP1B1 NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) SNV Conflicting Interpretations Of Pathogenicity
Benign
Not Provided
 7739 rs79204362 GRCh37: 2:38298394-38298394
GRCh38: 2:38071251-38071251
42 CYP1B1 NM_000104.4(CYP1B1):c.1120G>A (p.Asp374Asn) SNV Conflicting Interpretations Of Pathogenicity
 7734 rs104893622 GRCh37: 2:38298377-38298377
GRCh38: 2:38071234-38071234
43 CYP1B1 NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) SNV Conflicting Interpretations Of Pathogenicity
Benign
 68467 rs57865060 GRCh37: 2:38301847-38301847
GRCh38: 2:38074704-38074704
44 CYP1B1 NM_000104.4(CYP1B1):c.239G>C (p.Arg80Pro) SNV Uncertain Significance
 849728 rs899277811 GRCh37: 2:38302293-38302293
GRCh38: 2:38075150-38075150
45 CYP1B1 NM_000104.4(CYP1B1):c.-2G>A SNV Uncertain Significance
 335958 rs9341245 GRCh37: 2:38302923-38302923
GRCh38: 2:38075780-38075780
46 CYP1B1 NM_000104.4(CYP1B1):c.*1601C>T SNV Uncertain Significance
 335923 rs886055992 GRCh37: 2:38296264-38296264
GRCh38: 2:38069121-38069121
47 CYP1B1 NM_000104.4(CYP1B1):c.*1460A>G SNV Uncertain Significance
 335925 rs137915099 GRCh37: 2:38296405-38296405
GRCh38: 2:38069262-38069262
48 CYP1B1 NM_000104.4(CYP1B1):c.1202A>G (p.His401Arg) SNV Uncertain Significance
 335951 rs886055997 GRCh37: 2:38298295-38298295
GRCh38: 2:38071152-38071152
49 CYP1B1 NM_000104.4(CYP1B1):c.*493G>A SNV Uncertain Significance
 335941 rs886055996 GRCh37: 2:38297372-38297372
GRCh38: 2:38070229-38070229
50 CYP1B1 NM_000104.4(CYP1B1):c.1253C>T (p.Thr418Ile) SNV Uncertain Significance
 999204 rs1682424004 GRCh37: 2:38298244-38298244
GRCh38: 2:38071101-38071101

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 3, Primary Congenital, a:

73 (show all 40)
# Symbol AA change Variation ID SNP ID
1 CYP1B1 p.Gly61Glu VAR_001244 rs28936700
2 CYP1B1 p.Gly365Trp VAR_001245 rs55771538
3 CYP1B1 p.Asp374Asn VAR_001246 rs104893622
4 CYP1B1 p.Arg469Trp VAR_001247 rs28936701
5 CYP1B1 p.Trp57Cys VAR_008350 rs72549387
6 CYP1B1 p.Glu387Lys VAR_008352 rs55989760
7 CYP1B1 p.Arg390His VAR_008353 rs56010818
8 CYP1B1 p.Pro437Leu VAR_008354 rs56175199
9 CYP1B1 p.Arg368His VAR_016034 rs79204362
10 CYP1B1 p.Tyr81Asn VAR_028736 rs9282671
11 CYP1B1 p.Ser28Trp VAR_054227 rs780002791
12 CYP1B1 p.Leu77Pro VAR_054229
13 CYP1B1 p.Ala115Pro VAR_054230 rs764338357
14 CYP1B1 p.Met132Arg VAR_054231
15 CYP1B1 p.Gln144Pro VAR_054233
16 CYP1B1 p.Gln144Arg VAR_054234 rs753847648
17 CYP1B1 p.Arg145Trp VAR_054235
18 CYP1B1 p.Asp192Val VAR_054238
19 CYP1B1 p.Pro193Leu VAR_054239 rs529769268
20 CYP1B1 p.Val198Ile VAR_054240 rs59472972
21 CYP1B1 p.Asn203Ser VAR_054241 rs1426636145
22 CYP1B1 p.Ser215Ile VAR_054242 rs72549384
23 CYP1B1 p.Glu229Lys VAR_054243 rs57865060
24 CYP1B1 p.Gly232Arg VAR_054244 rs104893628
25 CYP1B1 p.Ser239Arg VAR_054245
26 CYP1B1 p.Leu345Phe VAR_054251 rs66583685
27 CYP1B1 p.Val364Met VAR_054253 rs72549379
28 CYP1B1 p.Ala388Thr VAR_054254
29 CYP1B1 p.Arg390Cys VAR_054255 rs148542782
30 CYP1B1 p.Arg390Ser VAR_054256 rs148542782
31 CYP1B1 p.Ile399Ser VAR_054257 rs72549378
32 CYP1B1 p.Val409Phe VAR_054258 rs957253424
33 CYP1B1 p.Asn423Tyr VAR_054260 rs104893629
34 CYP1B1 p.Arg444Gln VAR_054261 rs72549376
35 CYP1B1 p.Phe445Cys VAR_054262
36 CYP1B1 p.Gly466Asp VAR_054263 rs868208502
37 CYP1B1 p.Glu499Gly VAR_054264 rs72549372
38 CYP1B1 p.Arg523Thr VAR_054267
39 CYP1B1 p.Asp530Gly VAR_054268
40 MYOC p.Gln48His VAR_054272 rs74315339

Sources

Expression for Glaucoma 3, Primary Congenital, a

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Search GEO for disease gene expression data for Glaucoma 3, Primary Congenital, a.
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Pathways for Glaucoma 3, Primary Congenital, a

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Pathways related to Glaucoma 3, Primary Congenital, a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Diseases of glycosylation 66
Show member pathways
 12.35 POMT2 POMT1 DPM3 DAG1 CYP1B1 B3GLCT
2
Diseases associated with O-glycosylation of proteins 66
Show member pathways
 11.82 POMT2 POMT1 DAG1 B3GLCT ADAMTS10
3
O-linked glycosylation of mucins 66
Show member pathways
 11.47 POMT2 POMT1 DAG1 B3GNT2 B3GLCT ADAMTS10
4
protein N-glycosylation initial phase (eukaryotic) 61
Show member pathways
 10.97 POMT2 POMT1 DPM3
5
BMP signaling in eyelid development 74
10.67 PITX2 FOXC1
6
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 66
Show member pathways
 9.91 POMT2 POMT1 DAG1
Sources

GO Terms for Glaucoma 3, Primary Congenital, a

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Cellular components related to Glaucoma 3, Primary Congenital, a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.32 MYOC LTBP3 LTBP2 DAG1 ADAMTS10

Biological processes related to Glaucoma 3, Primary Congenital, a according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 10.06 PITX2 MAB21L1 FOXE3 FOXC1
2 eye development GO:0001654 9.92 FOXC1 FOXE3 MAB21L1 PAX6
3 protein O-linked glycosylation GO:0006493 9.89 POMT2 POMT1 FKTN
4 cornea development in camera-type eye GO:0061303 9.81 PAX6 FOXE3
5 lacrimal gland development GO:0032808 9.78 PAX6 FOXC1
6 positive regulation of core promoter binding GO:1904798 9.73 PAX6 FOXC1
7 iris morphogenesis GO:0061072 9.73 PITX2 PAX6 FOXE3
8 positive regulation of protein O-linked glycosylation GO:1904100 9.71 POMT2 POMT1
9 protein glycosylation GO:0006486 9.7 POMT2 POMT1 FKTN DPM3 B3GNT2 B3GLCT
10 trabecular meshwork development GO:0002930 9.67 FOXE3 CYP1B1
11 camera-type eye development GO:0043010 9.56 PITX2 PAX6 MAB21L1 FOXE3 FOXC1
12 protein O-linked mannosylation GO:0035269 9.23 POMT2 POMT1 FKTN DPM3

Molecular functions related to Glaucoma 3, Primary Congenital, a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.26 POMT2 POMT1
2 glycosyltransferase activity GO:0016757 9.1 POMT2 POMT1 B3GNT2 B3GLCT
Sources

Sources for Glaucoma 3, Primary Congenital, a

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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