MCID: PRM032
MIFTS: 30

Primary Congenital Glaucoma malady

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

Aliases & Classifications for Primary Congenital Glaucoma

Aliases & Descriptions for Primary Congenital Glaucoma:

Name: Primary Congenital Glaucoma 23 24 69

Classifications:



Summaries for Primary Congenital Glaucoma

MalaCards based summary : Primary Congenital Glaucoma is related to peters anomaly and cyp1b1-related primary congenital glaucoma. An important gene associated with Primary Congenital Glaucoma is LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2). The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and eye, and related phenotype is vision/eye.

GeneReviews: NBK1135

Related Diseases for Primary Congenital Glaucoma

Diseases in the Juvenile Glaucoma family:

Glaucoma 3, Primary Infantile, B Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, C Primary Congenital Glaucoma
Glaucoma Type 1c Glaucoma, Hereditary
Glaucoma, Hereditary Adult Type 1a Glaucoma, Hereditary Juvenile Type 1b
Glaucoma, Primary Infantile Type 3a Cyp1b1-Related Primary Congenital Glaucoma
Ltbp2-Related Primary Congenital Glaucoma Early-Onset Glaucoma
Glaucoma 3, Primary Congenital, E

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

(show all 40)
id Related Disease Score Top Affiliating Genes
1 peters anomaly 29.1 CYP1B1 FOXC1 LTBP2 MYOC
2 cyp1b1-related primary congenital glaucoma 12.0
3 ltbp2-related primary congenital glaucoma 11.9
4 glaucoma 3a, primary open angle, congenital, juvenile, or adult onset 11.7
5 glaucoma 3, primary congenital, d 11.5
6 glaucoma 3, primary infantile, b 11.1
7 glaucoma 3, primary congenital, e 10.8
8 pituitary hormone deficiency, combined, 4 10.1 CYP1B1 MYOC
9 hereditary xanthinuria 10.1 CYP1B1 MYOC
10 jph2-related familial hypertrophic cardiomyopathy 10.1 CYP1B1 FOXC1
11 myopia 7 10.1 CYP1B1 FOXC1
12 acute poststreptococcal glomerulonephritis 10.0 CYP1B1 MYOC
13 deafness, autosomal recessive 91 10.0 CYP1B1 FOXC1
14 open-angle glaucoma 10.0
15 muir-torre syndrome 10.0 CYP1B1 FOXC1 MYOC
16 conjunctival folliculosis 10.0 CYP1B1 FOXC1 LTBP2
17 buphthalmos 10.0
18 opisthorchiasis 9.9 CYP1B1 LTBP2 MYOC
19 idiopathic corneal edema 9.9 CYP1B1 LTBP2 MYOC
20 lactocele 9.9 CYP1B1 MYOC WDR36
21 colorectal cancer 5 9.9 CYP1B1 MYOC WDR36
22 morbid obesity and spermatogenic failure 9.9 MYOC WDR36
23 retinitis 9.8
24 chronic tympanitis 9.8 CYP1B1 FOXC1 LTBP2 MYOC
25 hypertrophy of breast 9.8 CYP1B1 FOXC1 MYOC WDR36
26 nevoid hypermelanosis, linear and whorled 9.8 CYP1B1 FOXC1 MYOC WDR36
27 cataract 9.8
28 megalocornea 9.6
29 corneal edema 9.6
30 lens subluxation 9.6
31 patau syndrome 9.6
32 myopia 9.6
33 peripheral retinal degeneration 9.6
34 anisometropia 9.6
35 down syndrome 9.6
36 corneal dystrophy 9.6
37 retinal detachment 9.6
38 retinal degeneration 9.6
39 neurofibromatosis 9.6
40 red-green color vision defects 9.0 CYP1B1 FOXC1 GLC3B GLC3C LTBP2 MYOC

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 CYP1B1 FOXC1 LTBP2 MYOC

Drugs & Therapeutics for Primary Congenital Glaucoma

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

(show all 36)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4 216974-75-3
2 Angiogenesis Inhibitors Phase 4,Phase 2
3 Angiogenesis Modulating Agents Phase 4
4
Timolol Approved Phase 2 26839-75-8 33624 5478
5 Adrenergic Agents Phase 2
6 Adrenergic Antagonists Phase 2
7 Neurotransmitter Agents Phase 2
8 Adrenergic beta-Antagonists Phase 2
9 TEMPO Phase 2
10 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination Phase 2
11 Tetrahydrozoline Phase 2
12 Ophthalmic Solutions Phase 2
13 Pharmaceutical Solutions Phase 2
14 Anti-Arrhythmia Agents Phase 2
15 Antihypertensive Agents Phase 2
16
Menthol Approved 2216-51-5 16666
17
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
18 Dexamethasone acetate 1177-87-3
19 glucocorticoids
20
protease inhibitors
21 Gastrointestinal Agents
22 HIV Protease Inhibitors
23 Hormone Antagonists
24 Dexamethasone 21-phosphate
25 Anesthetics
26 Hormones
27 Peripheral Nervous System Agents
28 Hormones, Hormone Substitutes, and Hormone Antagonists
29 Immunoglobulins
30 Antiemetics
31 Anti-Inflammatory Agents
32 Antibodies
33 BB 1101
34 Autonomic Agents
35 Antineoplastic Agents, Hormonal
36 Central Nervous System Depressants

Interventional clinical trials:

(show all 22)
id Name Status NCT ID Phase
1 Comparison of the Ahmed Glaucoma Valve FP7 and FP8 in Pediatric Glaucoma Unknown status NCT01494974 Phase 4
2 Use of Bevacizumab in Trabeculectomy Surgery Completed NCT01166594 Phase 4
3 Aphakia Versus Pseudophakia in Children Under 2 Years Undergoing Bilateral Congenital Cataract Surgery Completed NCT01297153 Phase 4
4 Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - (TEMPO) Recruiting NCT02484716 Phase 2
5 Comparison Between Deep Sclerectomy and Traditional Trabeculotomy & Trabeculectomy in Congenital Glaucoma Unknown status NCT01460017 Phase 1
6 Combined Trab+Trab Versus Combined Trab+Trab With Subconjunctival Implantation of Ologen for Primary Congenital Glaucoma Active, not recruiting NCT02121171 Phase 1
7 The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
8 OCT-guided LALAK in Children Unknown status NCT01579643
9 Endoscopic Goniotomy for Infantile Glaucoma Completed NCT00338533
10 Mechanism of Aphakic and Pseudophakic Glaucoma in Pediatric Patients Completed NCT01136473
11 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
12 Long-term Postoperative Outcomes After Bilateral Congenital Cataract Surgery in Eyes With Microphthalmos Completed NCT01818037
13 Effect of the Timing of Cataract Surgery on Complications in Patients With Bilateral Congenital Cataracts Completed NCT02581046
14 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
15 Clinical Trial : Complications of in the Bag IOL Versus Optic Capture of IOL in Pediatric Cataract Surgery Completed NCT02491918
16 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460
17 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Recruiting NCT03016156
18 Aqueous Humor Dynamics and Biometric Parameters in Eyes of Children Recruiting NCT01290588
19 Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France Recruiting NCT03077789
20 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Active, not recruiting NCT02945176
21 Study of an Intervention to Improve Problem List Accuracy and Use Active, not recruiting NCT01105923
22 Repository for Inherited Eye Diseases Suspended NCT00378742

Search NIH Clinical Center for Primary Congenital Glaucoma

Genetic Tests for Primary Congenital Glaucoma

Genetic tests related to Primary Congenital Glaucoma:

id Genetic test Affiliating Genes
1 Primary Congenital Glaucoma 24 LTBP2

Anatomical Context for Primary Congenital Glaucoma

MalaCards organs/tissues related to Primary Congenital Glaucoma:

39
Testes, Brain, Eye

Publications for Primary Congenital Glaucoma

Articles related to Primary Congenital Glaucoma:

(show top 50) (show all 236)
id Title Authors Year
1
Outcomes of microcatheter-assisted trabeculotomy following failed angle surgeries in primary congenital glaucoma. ( 27740616 )
2017
2
Structural and biomechanical corneal differences between patients suffering from primary congenital glaucoma and healthy volunteers. ( 27573413 )
2016
3
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent. ( 27508083 )
2016
4
Surgical Outcomes of Trabeculotomy in Newborns with Primary Congenital Glaucoma. ( 27625089 )
2016
5
Observations regarding gender and response to initial angle surgery in CYP1B1-related primary congenital glaucoma. ( 27438756 )
2016
6
Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma. ( 27293371 )
2016
7
Combined trabeculotomy-trabeculectomy versus Ahmed valve implantation for refractory primary congenital glaucoma in Egyptian patients: a long-term follow-up. ( 27053995 )
2016
8
Surgical outcomes in children with primary congenital glaucoma: a 20-year experience. ( 27033964 )
2016
9
Corneal Haze as Prognostic Indicator of Intraocular Pressure in Primary Congenital Glaucoma. ( 27367136 )
2016
10
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark. ( 27820421 )
2016
11
Fiberoptic Microcatheter-assisted 360-Degree Trabeculotomy Ab Externo After Unsuccessful Trabeculotome Trabeculotomy in Primary Congenital Glaucoma: A Case Report. ( 27367133 )
2016
12
Primary Congenital Glaucoma versus Glaucoma Following Congenital Cataract Surgery: Comparative Clinical Features and Long-term Outcomes. ( 27544478 )
2016
13
A case of spontaneously resolved primary congenital glaucoma. ( 27050360 )
2016
14
Persistent Corneal Edema Associated With Subconjunctival 5-fluorouracil in an Infant With Primary Congenital Glaucoma. ( 27783089 )
2016
15
Pathological and Immunohistochemical Alterations of the Cornea in Congenital Corneal Opacification Secondary to Primary Congenital Glaucoma and Peters Anomaly. ( 26684044 )
2016
16
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients. ( 27268095 )
2016
17
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. ( 27270174 )
2016
18
Intraocular pressure and biomechanical corneal properties measure by ocular response analyser in patients with primary congenital glaucoma. ( 26647905 )
2015
19
Long-term outcome of primary congenital glaucoma in South Korea. ( 26361375 )
2015
20
Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations. ( 25836661 )
2015
21
Genotype-phenotype correlation in moroccan patients with primary congenital glaucoma. ( 25826643 )
2015
22
Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients. ( 25580891 )
2015
23
A case of spontaneously resolved primary congenital glaucoma. ( 26458483 )
2015
24
A rare case of primary congenital glaucoma in combination with neurofibromatosis 1: a case report. ( 26514695 )
2015
25
Combined trabeculotomy-trabeculectomy with antimetabolite and releasable suture: outcome with primary congenital glaucoma in a north Indian population. ( 26695601 )
2015
26
Gonioscopy assisted transluminal trabeculotomy: an ab interno circumferential trabeculotomy for the treatment of primary congenital glaucoma and juvenile open angle glaucoma. ( 25677669 )
2015
27
CYP1B1 gene mutations with incomplete penetrance in a Chinese pedigree with primary congenital glaucoma: a case report and review of literatures. ( 26550445 )
2015
28
Illuminated microcatheter circumferential trabeculotomy versus combined trabeculotomy-trabeculectomy for primary congenital glaucoma: a randomized controlled trial. ( 25486542 )
2015
29
PERIPHERAL RETINAL DEGENERATIONS AND RHEGMATOGENOUS DETACHMENT IN PRIMARY CONGENITAL GLAUCOMA. ( 26200515 )
2015
30
Long-term Surgical Outcomes of 180-Degree Suture Trabeculotomy in Korean Patients With Primary Congenital Glaucoma. ( 26550978 )
2015
31
Mitochondrial transfer RNA variants and primary congenital glaucoma. ( 25835039 )
2015
32
CYP1B1-mediated Pathobiology of Primary Congenital Glaucoma. ( 26997841 )
2015
33
Boston type 1 keratoprosthesis for primary congenital glaucoma. ( 26206789 )
2015
34
Visual field loss in primary congenital glaucoma. ( 25892039 )
2015
35
CYP1B1 gene analysis and phenotypic correlation in Portuguese children with primary congenital glaucoma. ( 25952714 )
2015
36
Primary congenital glaucoma. ( 26518078 )
2015
37
Outcomes of Ahmed valve implant following a failed initial trabeculotomy and trabeculectomy in refractory primary congenital glaucoma. ( 25624676 )
2015
38
CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma. ( 25750510 )
2015
39
Outcomes of Ahmed glaucoma valve implantation in advanced primary congenital glaucoma with previous surgical failure. ( 26082610 )
2015
40
The Genetics and the Genomics of Primary Congenital Glaucoma. ( 26451367 )
2015
41
Homozygous p.G61E mutation in a consanguineous Pakistani family with co-existence of juvenile-onset open angle glaucoma and primary congenital glaucoma. ( 26164761 )
2015
42
[Construction of CYP1B1 gene haplotypes predisposing to primary congenital glaucoma through allele-specific PCR/restriction fragment length polymorphism analysis]. ( 26663047 )
2015
43
Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil. ( 25978063 )
2015
44
Cytochrome P450 1B1 and Primary Congenital Glaucoma. ( 26005555 )
2015
45
CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients. ( 26550974 )
2015
46
Characteristics of Children With Primary Congenital Glaucoma Receiving Trabeculotomy and Goniotomy. ( 26584751 )
2015
47
Results of Ahmed glaucoma valve implantation in primary congenital glaucoma. ( 26198016 )
2015
48
Primary Congenital Glaucoma with Delayed Suprachoroidal Hemorrhage following Combined Trabeculotomy Trabeculectomy and 5-Fluorouracil. ( 26819790 )
2015
49
Intraocular pressure measurement by three different tonometers in primary congenital glaucoma. ( 26005552 )
2015
50
Surgical interventions for primary congenital glaucoma. ( 25636153 )
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

GO Terms for Primary Congenital Glaucoma

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

id Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 8.62 CYP1B1 FOXC1

Sources for Primary Congenital Glaucoma

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