MCID: PRM032
MIFTS: 36

Primary Congenital Glaucoma

Categories: Rare diseases, Fetal diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Primary Congenital Glaucoma

MalaCards integrated aliases for Primary Congenital Glaucoma:

Name: Primary Congenital Glaucoma 12 23 36 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0050593
KEGG 36 H01203
UMLS 69 C1533041

Summaries for Primary Congenital Glaucoma

MalaCards based summary : Primary Congenital Glaucoma is related to glaucoma 3, primary infantile, b and glaucoma 1, open angle, a. An important gene associated with Primary Congenital Glaucoma is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1), and among its related pathways/superpathways are Steroid hormone biosynthesis and Tryptophan metabolism. The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and brain, and related phenotype is vision/eye.

GeneReviews: NBK1135

Related Diseases for Primary Congenital Glaucoma

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 Early-Onset Glaucoma

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary infantile, b 32.5 CYP1B1 LTBP2 TEK
2 glaucoma 1, open angle, a 31.2 CYP1B1 MYOC OPTN
3 glaucoma 3, primary congenital, a 30.6 CYP1B1 FOXC1 LTBP2 MYOC OPTN PITX2
4 megalocornea 29.5 LTBP2 OPTN
5 open-angle glaucoma 29.3 CYP1B1 MYOC OPTN WDR36
6 glaucoma, primary open angle 29.0 CYP1B1 MYOC OPTN WDR36
7 peters-plus syndrome 28.9 CYP1B1 FOXC1 PITX2
8 corneal edema 28.4 CYP1B1 LTBP2 MYOC OPTN TEK
9 glaucoma 3, primary congenital, d 11.6
10 glaucoma 3, primary congenital, e 10.9
11 acrofrontofacionasal dysostosis 10.1 CYP1B1 OPTN
12 ritscher-schinzel syndrome 9.9 FOXC1 OPTN
13 retinitis 9.9
14 phacogenic glaucoma 9.9 LTBP2 OPTN
15 axenfeld-rieger syndrome, type 3 9.8 FOXC1 PITX2
16 primary angle-closure glaucoma 9.8 CYP1B1 MYOC OPTN
17 anterior segment dysgenesis 4 9.8 FOXC1 PITX2
18 cataract 9.8
19 ocular hypertension 9.8 MYOC OPTN
20 intestinal atresia 9.8 FOXC1 PITX2
21 early-onset glaucoma 9.7 CYP1B1 MYOC PITX2
22 low tension glaucoma 9.7 MYOC OPTN WDR36
23 persistent hyperplastic primary vitreous 9.7 FOXC1 PITX2
24 anisocoria 9.7
25 blood group, i system 9.7
26 neurofibromatosis, type iv, of riccardi 9.7
27 retinal detachment 9.7
28 teeth present at birth 9.7
29 down syndrome 9.7
30 aging 9.7
31 anterior segment dysgenesis 3 9.7
32 glaucoma 3, primary congenital, c 9.7
33 hydrops, lactic acidosis, and sideroblastic anemia 9.7
34 lens subluxation 9.7
35 patau syndrome 9.7
36 myopia 9.7
37 peripheral retinal degeneration 9.7
38 anisometropia 9.7
39 corneal dystrophy 9.7
40 retinal degeneration 9.7
41 isolated congenital megalocornea 9.7
42 optic nerve disease 9.6 MYOC OPTN
43 excessive tearing 9.6 CYP1B1 LTBP2 MYOC OPTN
44 axenfeld-rieger syndrome, type 2 9.4 FOXC1 OPTN PITX2
45 iris disease 9.4 FOXC1 OPTN PITX2
46 axenfeld-rieger syndrome 9.2 CYP1B1 FOXC1 OPTN PITX2
47 aniridia 1 9.2 CYP1B1 FOXC1 OPTN PITX2
48 hydrophthalmos 9.0 CYP1B1 FOXC1 LTBP2 OPTN PITX2
49 intraocular pressure quantitative trait locus 8.6 CYP1B1 FOXC1 MYOC OPTN PITX2 WDR36
50 juvenile glaucoma 8.6 CYP1B1 FOXC1 MYOC OPTN PITX2 WDR36

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



Diseases related to Primary Congenital Glaucoma

Symptoms & Phenotypes for Primary Congenital Glaucoma

MGI Mouse Phenotypes related to Primary Congenital Glaucoma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CYP1B1 FOXC1 LTBP2 MYOC PITX2 TEK

Drugs & Therapeutics for Primary Congenital Glaucoma

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4 216974-75-3
2 Angiogenesis Inhibitors Phase 4
3 Angiogenesis Modulating Agents Phase 4
4
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Bevacizumab in Trabeculectomy Surgery Completed NCT01166594 Phase 4 Bevacizumab;Control
2 Combined Trab+Trab Versus Combined Trab+Trab With Subconjunctival Implantation of Ologen for Primary Congenital Glaucoma Unknown status NCT02121171 Phase 1
3 Comparison Between Deep Sclerectomy and Traditional Trabeculotomy & Trabeculectomy in Congenital Glaucoma Unknown status NCT01460017 Phase 1
4 The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
5 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Completed NCT02945176
6 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460
7 Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France Recruiting NCT03077789
8 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Recruiting NCT03016156
9 Repository for Inherited Eye Diseases Suspended NCT00378742

Search NIH Clinical Center for Primary Congenital Glaucoma

Genetic Tests for Primary Congenital Glaucoma

Anatomical Context for Primary Congenital Glaucoma

MalaCards organs/tissues related to Primary Congenital Glaucoma:

38
Eye, Testes, Brain

Publications for Primary Congenital Glaucoma

Articles related to Primary Congenital Glaucoma:

(show top 50) (show all 259)
# Title Authors Year
1
Mitomycin C in Filtering Surgery for Primary Congenital Glaucoma: A Comparison of Exposure Durations. ( 29384564 )
2018
2
Long-term outcome of combined trabeculotomy-trabeculectomy by a single surgeon in patients with primary congenital glaucoma. ( 28983095 )
2018
3
Microcatheter-assisted Trabeculotomy versus Two-site Trabeculotomy with the Rigid Probe Trabeculotome in Primary Congenital Glaucoma. ( 29394197 )
2018
4
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN PRIMARY CONGENITAL GLAUCOMA. ( 29155694 )
2017
5
Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program. ( 29234227 )
2017
6
Circumferential Trabeculotomy Versus Conventional Angle Surgery: Comparing Long-term Surgical Success and Clinical Outcomes in Children with Primary Congenital Glaucoma. ( 28860043 )
2017
7
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma. ( 28620713 )
2017
8
Agreement in central corneal thickness measurements between optical and ultrasound pachymeters in patients with primary congenital glaucoma. ( 28574493 )
2017
9
A Comparative Study: The Use of Collagen Implant versus Mitomycin-C in Combined Trabeculotomy and Trabeculectomy for Treatment of Primary Congenital Glaucoma. ( 28573046 )
2017
10
Pathogenesis and surgical resolution of acute hydrops in primary congenital glaucoma. ( 29160611 )
2017
11
Corneal profile in primary congenital glaucoma. ( 28139064 )
2017
12
Retrospective observation on trabeculectomy of primary congenital glaucoma by applying biological amniotic membranes soaked with 5-fluorouracil. ( 28905161 )
2017
13
Ciliary body location in eyes with and without primary congenital glaucoma. ( 29217026 )
2017
14
Outcomes of microcatheter-assisted trabeculotomy following failed angle surgeries in primary congenital glaucoma. ( 27740616 )
2017
15
Evaluation of preoperative speed of progression and its association with surgical outcomes in primary congenital glaucoma patients: a retrospective study. ( 28923045 )
2017
16
Viscocanalostomy combined with trabeculotomy and mitomycin C in the treatment of primary congenital glaucoma. ( 28730083 )
2017
17
Long-term visual outcomes in children with primary congenital glaucoma. ( 28430330 )
2017
18
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. ( 28448622 )
2017
19
Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma. ( 28384041 )
2017
20
Regular Versus Releasable Sutures in Surgery for Primary Congenital Glaucoma. ( 28617521 )
2017
21
Analysis of<i>CYP1B1</i>Gene Mutations in Patients with Primary Congenital Glaucoma. ( 29142762 )
2017
22
The morphogen behind primary congenital glaucoma and the dream of targeting. ( 28730218 )
2017
23
In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma. ( 28386709 )
2017
24
Fellow Eye in Unilateral Primary Congenital Glaucoma. ( 28138215 )
2017
25
Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma. ( 27293371 )
2016
26
Structural and biomechanical corneal differences between patients suffering from primary congenital glaucoma and healthy volunteers. ( 27573413 )
2016
27
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark. ( 27820421 )
2016
28
Surgical Outcomes of Trabeculotomy in Newborns with Primary Congenital Glaucoma. ( 27625089 )
2016
29
Persistent Corneal Edema Associated With Subconjunctival 5-fluorouracil in an Infant With Primary Congenital Glaucoma. ( 27783089 )
2016
30
Observations regarding gender and response to initial angle surgery in CYP1B1-related primary congenital glaucoma. ( 27438756 )
2016
31
Combined trabeculotomy-trabeculectomy versus Ahmed valve implantation for refractory primary congenital glaucoma in Egyptian patients: a long-term follow-up. ( 27053995 )
2016
32
A case of spontaneously resolved primary congenital glaucoma. ( 27050360 )
2016
33
Pathological and Immunohistochemical Alterations of the Cornea in Congenital Corneal Opacification Secondary to Primary Congenital Glaucoma and Peters Anomaly. ( 26684044 )
2016
34
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent. ( 27508083 )
2016
35
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients. ( 27268095 )
2016
36
Primary Congenital Glaucoma versus Glaucoma Following Congenital Cataract Surgery: Comparative Clinical Features and Long-term Outcomes. ( 27544478 )
2016
37
Corneal Haze as Prognostic Indicator of Intraocular Pressure in Primary Congenital Glaucoma. ( 27367136 )
2016
38
Fiberoptic Microcatheter-assisted 360-Degree Trabeculotomy Ab Externo After Unsuccessful Trabeculotome Trabeculotomy in Primary Congenital Glaucoma: A Case Report. ( 27367133 )
2016
39
Surgical outcomes in children with primary congenital glaucoma: a 20-year experience. ( 27033964 )
2016
40
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. ( 27270174 )
2016
41
CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients. ( 26550974 )
2015
42
Visual field loss in primary congenital glaucoma. ( 25892039 )
2015
43
CYP1B1-mediated Pathobiology of Primary Congenital Glaucoma. ( 26997841 )
2015
44
Genotype-phenotype correlation in moroccan patients with primary congenital glaucoma. ( 25826643 )
2015
45
CYP1B1 gene mutations with incomplete penetrance in a Chinese pedigree with primary congenital glaucoma: a case report and review of literatures. ( 26550445 )
2015
46
Primary Congenital Glaucoma with Delayed Suprachoroidal Hemorrhage following Combined Trabeculotomy Trabeculectomy and 5-Fluorouracil. ( 26819790 )
2015
47
Cytochrome P450 1B1 and Primary Congenital Glaucoma. ( 26005555 )
2015
48
PERIPHERAL RETINAL DEGENERATIONS AND RHEGMATOGENOUS DETACHMENT IN PRIMARY CONGENITAL GLAUCOMA. ( 26200515 )
2015
49
Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients. ( 25580891 )
2015
50
A case of spontaneously resolved primary congenital glaucoma. ( 26458483 )
2015

Variations for Primary Congenital Glaucoma

Expression for Primary Congenital Glaucoma

Search GEO for disease gene expression data for Primary Congenital Glaucoma.

Pathways for Primary Congenital Glaucoma

Pathways related to Primary Congenital Glaucoma according to KEGG:

36
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140
2 Tryptophan metabolism hsa00380
3 Metabolism of xenobiotics by cytochrome P450 hsa00980

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

# Super pathways Score Top Affiliating Genes
1 10.29 FOXC1 PITX2

GO Terms for Primary Congenital Glaucoma

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

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.5 CYP1B1 FOXC1 TEK
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.46 MYOC TEK
3 camera-type eye development GO:0043010 9.43 FOXC1 PITX2
4 heart development GO:0007507 9.43 FOXC1 PITX2 TEK
5 odontogenesis of dentin-containing tooth GO:0042475 9.4 FOXC1 PITX2
6 collagen fibril organization GO:0030199 9.37 CYP1B1 FOXC1
7 positive regulation of DNA binding GO:0043388 9.16 FOXC1 PITX2
8 endochondral ossification GO:0001958 8.96 FOXC1 TEK
9 positive regulation of focal adhesion assembly GO:0051894 8.62 MYOC TEK

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

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.62 LTBP2 TEK

Sources for Primary Congenital Glaucoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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