MCID: JVN008
MIFTS: 42

Juvenile Glaucoma

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

Aliases & Classifications for Juvenile Glaucoma

MalaCards integrated aliases for Juvenile Glaucoma:

Name: Juvenile Glaucoma 12 58 15
Glaucoma of Childhood 12 71
Hydrophthalmos 71

Characteristics:

Orphanet epidemiological data:

58
juvenile glaucoma
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United States); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1068
UMLS via Orphanet 72 C2981140
Orphanet 58 ORPHA98977
UMLS 71 C0020302 C2981140

Summaries for Juvenile Glaucoma

Disease Ontology : 12 A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures.

MalaCards based summary : Juvenile Glaucoma, also known as glaucoma of childhood, is related to glaucoma 1, open angle, a and glaucoma 3, primary infantile, b. An important gene associated with Juvenile Glaucoma is MYOC (Myocilin), and among its related pathways/superpathways is Elastic fibre formation. The drugs Travoprost and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and endothelial, and related phenotypes are peripheral visual field loss and optic neuropathy

Related Diseases for Juvenile 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
Primary Early-Onset Glaucoma Secondary Early-Onset Glaucoma

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 glaucoma 1, open angle, a 32.8 OPTN MYOC CYP1B1
2 glaucoma 3, primary infantile, b 32.4 LTBP2 CYP1B1
3 anterior segment dysgenesis 4 32.2 PITX2 FOXC1 CRYAA
4 hydrophthalmos 30.7 WDR36 PITX2 PAX6 MYOC LTBP3 LTBP2
5 glaucoma 3, primary congenital, a 30.3 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
6 ocular hypertension 30.2 WDR36 OPTN MYOC CRYAA
7 ectropion 30.1 PAX6 CRYAA
8 corneal edema 30.0 MYOC LTBP2 CYP1B1
9 myopia 29.9 WDR36 PAX6 MYOC LTBP2 CRYAA
10 amblyopia 29.3 TDRD7 PAX6 FOXE3 CRYAA
11 open-angle glaucoma 29.2 WDR36 OPTN MYOC LTBP2 LOXL1 FOXC1
12 intraocular pressure quantitative trait locus 29.1 WDR36 PITX2 PEX19 PAX6 OPTN MYOC
13 steroid-induced glaucoma 29.1 WDR36 PEX19 OPTN MYOC CYP1B1 CRYAA
14 megalocornea 28.9 WDR36 PITX2 MYOC LTBP3 LTBP2 FOXC1
15 glaucoma-related pigment dispersion syndrome 28.7 WDR36 PEX19 OPTN MYOC LOXL1 CYP1B1
16 aniridia 1 28.4 PITX2 PAX6 MYOC LTBP2 FOXE3 FOXC1
17 glaucoma, primary open angle 28.1 WDR36 PEX19 OPTN MYOC LTBP3 LTBP2
18 cataract 27.8 TDRD7 PITX2 PEX5 PAX6 LOXL1 FOXE3
19 primary congenital glaucoma 27.3 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
20 ackerman syndrome 11.9
21 pyramidal molars-abnormal upper lip syndrome 11.9
22 anterior segment dysgenesis 3 11.2
23 axenfeld-rieger syndrome, type 2 10.4 PITX2 FOXC1
24 traumatic glaucoma 10.3 MYOC LTBP2
25 isolated aniridia 10.3 PAX6 FOXC1
26 anterior segment dysgenesis 5 10.3 PAX6 CYP1B1
27 peripheral retinal degeneration 10.3 WDR36 MYOC
28 early-onset glaucoma 10.3 PITX2 MYOC CYP1B1
29 congenital hypopituitarism 10.2 PITX2 PAX6
30 cornea plana 10.2 PITX2 FOXC1 CRYAA
31 primary angle-closure glaucoma 10.2 OPTN MYOC CYP1B1
32 amyotrophic lateral sclerosis 12 10.2 OPTN CRYAA
33 morgagni cataract 10.2 PEX19 CRYAA
34 yemenite deaf-blind hypopigmentation syndrome 10.2
35 acquired color blindness 10.2 PITX2 PAX6 FOXC1
36 amyotrophic lateral sclerosis 9 10.2 OPTN CRYAA
37 intestinal atresia 10.2 PITX2 PAX6 FOXC1
38 coloboma, ocular, autosomal dominant 10.1 PAX6 CYP1B1
39 phimosis 10.1 PEX19 CYP1B1 CRYAA
40 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.1 PITX2 PAX6 FOXC1
41 chronic closed-angle glaucoma 10.1 MYOC LOXL1
42 congenital aphakia 10.1 PAX6 FOXE3
43 presbyopia 10.1 FOXE3 CRYAA
44 acute closed-angle glaucoma 10.1 PEX19 OPTN MYOC
45 excessive tearing 10.1 WDR36 MYOC LTBP2 CYP1B1
46 microphthalmia, isolated 2 10.1 WDR36 PAX6 MYOC CYP1B1
47 cranial nerve disease 10.0 WDR36 OPTN MYOC CRYAA
48 optic nerve disease 10.0 WDR36 OPTN MYOC CRYAA
49 disuse amblyopia 10.0 TDRD7 FOXE3 CRYAA
50 strabismus 9.9

Graphical network of the top 20 diseases related to Juvenile Glaucoma:



Diseases related to Juvenile Glaucoma

Symptoms & Phenotypes for Juvenile Glaucoma

Human phenotypes related to Juvenile Glaucoma:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peripheral visual field loss 58 31 frequent (33%) Frequent (79-30%) HP:0007994
2 optic neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0001138
3 open angle glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0012108
4 abnormal anterior chamber morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000593
5 abnormality iris morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000525
6 ocular hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0007906
7 glaucomatous visual field defect 58 31 frequent (33%) Frequent (79-30%) HP:0007854
8 high myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011003
9 increased cup-to-disc ratio 58 31 occasional (7.5%) Occasional (29-5%) HP:0012796
10 temporal optic disc pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0012511
11 central scotoma 58 31 very rare (1%) Very rare (<4-1%) HP:0000603
12 retinal vein occlusion 58 31 very rare (1%) Very rare (<4-1%) HP:0012636
13 retinal arterial occlusion 58 31 very rare (1%) Very rare (<4-1%) HP:0025326
14 visual impairment 58 Frequent (79-30%)
15 abnormality of the optic nerve 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Juvenile Glaucoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.5 FOXC1 LOXL1 LTBP2 LTBP3 PAX6 PEX5
2 vision/eye MP:0005391 9.23 CYP1B1 FOXC1 LTBP2 LTBP3 MYOC PAX6

Drugs & Therapeutics for Juvenile Glaucoma

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Travoprost Approved Phase 3 157283-68-6 5282226
2
tannic acid Approved Phase 3 1401-55-4
3
Timolol Approved Phase 3 26839-75-8 33624 5478
4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
5 Antihypertensive Agents Phase 3
6 Pharmaceutical Solutions Phase 3
7 Ophthalmic Solutions Phase 3
8 Neurotransmitter Agents Phase 3
9 Anti-Arrhythmia Agents Phase 3
10 Adrenergic Antagonists Phase 3
11 Adrenergic beta-Antagonists Phase 3
12 Adrenergic Agents Phase 3
13
Latanoprost Approved, Investigational Phase 2 130209-82-4 5282380 5311221
14
Dorzolamide Approved Phase 2 120279-96-1 3154 5284549
15 Carbonic Anhydrase Inhibitors Phase 2
16 Anesthetics
17 Central Nervous System Depressants
18 Anti-Bacterial Agents
19 Alkylating Agents
20 Antibiotics, Antitubercular
21 Mitomycins

Interventional clinical trials:

(show all 21)
# 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 Efficacy and Safety of Prostaglandin Analogue and Carbonic Anhydrase Inhibitor for the Treatment of Pediatric Glaucoma Completed NCT01527682 Phase 2 Latanoprost, Dorzolamide
4 Comparison Between The Outcome of Deep Sclerectomy and Traditional Trabeculotomy and Trabeculectomy Surgeries in Congenital Glaucoma Unknown status NCT01460017 Phase 1
5 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
6 An Open-Label, Pharmacokinetic and Safety Study of Travoprost Ophthalmic Solution, 0.004% in Pediatric Glaucoma or Ocular Hypertension Patients Completed NCT01658839 Phase 1 Travoprost ophthalmic solution, 0.004% (new formulation)
7 Study of Gene, Inheritance Pattern and Genotype - Phenotype Correlations in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
8 Microcatheter Assisted Circumferential Trabeculotomy in Congenital Glaucoma Completed NCT04116450
9 Histopathological Examination of Iris Tissue in Buphthalmos Completed NCT04011878
10 Messenger Ribonucleic Acid Expression in Lymphocytes of Glaucoma Patients Completed NCT00327509
11 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
12 Evaluation and Treatment of Pediatric, Developmental and Genetic Eye Diseases Completed NCT00076271
13 Endoscopic Goniotomy for Infantile Glaucoma Completed NCT00338533
14 Aqueous Humor Dynamics and Biometric Parameters in Eyes of Children Recruiting NCT01290588
15 Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France Recruiting NCT03077789
16 Establishment of an Anaesthetic Protocol for Examinations Under Anaesthesia for Children With Glaucoma or Suspected Glaucoma - Correlation of Bispectral Index (BIS) and Intraocular Pressure (IOP) Recruiting NCT03972852
17 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460
18 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Recruiting NCT03016156
19 Randomized Controlled Study to Evaluate Safety and Efficacy of Ologen® Collagen Matrix Versus Mitomycin-C in Patients With Juvenile-onset Open Angle Glaucoma Not yet recruiting NCT03548805
20 Histopathological Examination of Iris Tissue in Primary Congenital Glaucoma Not yet recruiting NCT04079725
21 Randomized Controlled Study to Evaluate Safety and Efficacy of Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Not yet recruiting NCT03541551

Search NIH Clinical Center for Juvenile Glaucoma

Genetic Tests for Juvenile Glaucoma

Anatomical Context for Juvenile Glaucoma

MalaCards organs/tissues related to Juvenile Glaucoma:

40
Eye, Testes, Endothelial, Liver, Tonsil, Heart

Publications for Juvenile Glaucoma

Articles related to Juvenile Glaucoma:

(show top 50) (show all 282)
# Title Authors PMID Year
1
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. 61 6
11774072 2002
2
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. 61 6
11004290 2000
3
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) 61 6
9535666 1998
4
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
5
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. 6
21081970 2011
6
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. 6
19643970 2010
7
Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. 6
19807744 2009
8
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. 6
19234632 2009
9
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. 6
18537981 2008
10
Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma. 6
17499207 2007
11
Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals. 6
17210859 2007
12
Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma. 6
16401791 2006
13
Myocilin gene implicated in primary congenital glaucoma. 6
15733270 2005
14
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 6
15342693 2004
15
Primary Congenital Glaucoma 6
20301314 2004
16
Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients. 6
15025728 2004
17
Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin. 6
12522550 2003
18
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. 6
12372064 2002
19
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. 6
11535458 2001
20
The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma. 6
11292420 2001
21
Genetic screening in a large family with juvenile onset primary open angle glaucoma. 6
10873982 2000
22
Novel mutation in the MYOC gene in primary open glaucoma patients. 6
10819638 2000
23
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. 6
10655546 2000
24
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. 6
10227395 1999
25
Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree. 6
9754180 1998
26
Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. 6
9697688 1998
27
Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France. 6
9556305 1998
28
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. 6
9497261 1998
29
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. 6
9463332 1998
30
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. 6
9328473 1997
31
Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. 6
9345106 1997
32
Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma. 6
9361308 1997
33
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. 6
9097971 1997
34
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. 6
8513321 1993
35
Autosomal dominant juvenile onset glaucoma affecting six generations in an Edinburgh family. 6
3756132 1986
36
Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive. 6
6770678 1980
37
HEREDITARY GLAUCOMA OCCURRENCE IN FIVE GENERATIONS OF AN EDINBURGH FAMILY. 6
14193667 1964
38
Outcomes of 360° suture trabeculotomy after unsuccessful canaloplasty. 61
31811364 2020
39
Early results of micropulse transscleral cyclophotocoagulation for the treatment of glaucoma. 61
30938190 2019
40
22q11.2 microduplication syndrome and juvenile glaucoma. 61
29902089 2018
41
Iridogoniodysgenesis: A Challenging Case. 61
29690974 2018
42
Urrets-Zavalia Syndrome After Combined Trabeculotomy-Trabeculectomy Surgery. 61
29394202 2018
43
Anteriorization of the Normally Acting Inferior Oblique Muscles to Treat Dissociated Vertical Deviation Associated With Juvenile Glaucoma. 61
28991354 2017
44
[Wolfram syndrome and juvenile glaucoma: Case report]. 61
28919187 2017
45
Determination Of Association Of Pigmentary Glaucoma With Pigment Dispersion Syndrome. 61
29076672 2017
46
Spectrum of Eye Disorders Seen in a Pediatric Eye Clinic South East Nigeria. 61
29089738 2017
47
Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse. 61
28237965 2017
48
The Prevalence of Glaucoma in Young People. 61
28407842 2017
49
Comparison of EX-PRESS Shunt and Trabeculectomy With Mitomycin-C in Congenital and Juvenile Glaucoma. 61
28146442 2017
50
Reconstruction of delayed scleral flap melting with bovine pericardium after trabeculectomy with mitomycin C. 61
28695073 2017

Variations for Juvenile Glaucoma

Expression for Juvenile Glaucoma

Search GEO for disease gene expression data for Juvenile Glaucoma.

Pathways for Juvenile Glaucoma

Pathways related to Juvenile Glaucoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.66 LTBP3 LTBP2 LOXL1

GO Terms for Juvenile Glaucoma

Cellular components related to Juvenile Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 8.92 MYOC LTBP3 LTBP2 LOXL1

Biological processes related to Juvenile Glaucoma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.73 WDR36 PAX6 CYP1B1 CRYAA
2 anatomical structure morphogenesis GO:0009653 9.65 PITX2 FOXE3 FOXC1
3 peroxisome organization GO:0007031 9.49 PEX5 PEX19
4 cornea development in camera-type eye GO:0061303 9.46 PAX6 FOXE3
5 eye development GO:0001654 9.43 PAX6 FOXE3 FOXC1
6 positive regulation of core promoter binding GO:1904798 9.4 PAX6 FOXC1
7 lacrimal gland development GO:0032808 9.37 PAX6 FOXC1
8 protein import into peroxisome membrane GO:0045046 9.32 PEX5 PEX19
9 camera-type eye development GO:0043010 9.26 PITX2 PAX6 FOXE3 FOXC1
10 trabecular meshwork development GO:0002930 9.16 FOXE3 CYP1B1
11 iris morphogenesis GO:0061072 8.8 PITX2 PAX6 FOXE3

Molecular functions related to Juvenile Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 8.8 TDRD7 PEX5 PEX19

Sources for Juvenile Glaucoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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