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MCID: JVN008
MIFTS: 41

Juvenile Glaucoma

Categories: Eye diseases, Fetal diseases, Rare diseases, Genetic diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Juvenile Glaucoma

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MalaCards integrated aliases for Juvenile Glaucoma:

Name: Juvenile Glaucoma 12 59 15
Glaucoma of Childhood 12 73
Hydrophthalmos 73

Characteristics:

Orphanet epidemiological data:

59
juvenile glaucoma
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United States); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1068
Orphanet 59 ORPHA98977
UMLS via Orphanet 74 C2981140
UMLS 73 C2981140
Sources

Summaries for Juvenile Glaucoma

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MalaCards based summary : Juvenile Glaucoma, also known as glaucoma of childhood, is related to anterior segment dysgenesis 4 and glaucoma 3, primary congenital, a. An important gene associated with Juvenile Glaucoma is MYOC (Myocilin), and among its related pathways/superpathways is AGE-RAGE signaling pathway in diabetic complications. The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and tonsil, and related phenotypes are homeostasis/metabolism and mortality/aging

Sources

Related Diseases for Juvenile Glaucoma

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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 Early-Onset Glaucoma

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 4 32.5 FOXC1 PITX2
2 glaucoma 3, primary congenital, a 31.8 CYP1B1 FOXC1 MYOC OPTN PAX6 PITX2
3 open-angle glaucoma 28.1 CYP1B1 ELN MYOC NTF4 OPTN TGFB2
4 glaucoma, primary open angle 26.7 CYP1B1 ELN MYOC OPTN PHEX TGFB2
5 ackerman syndrome 11.7
6 glaucoma 3, primary infantile, b 10.9
7 anterior segment dysgenesis 3 10.9
8 acrofrontofacionasal dysostosis 10.9 CYP1B1 OPTN
9 isolated aniridia 10.8 FOXC1 PAX6
10 axenfeld-rieger syndrome, type 3 10.8 FOXC1 PITX2
11 anterior segment dysgenesis 5 10.8 CYP1B1 PAX6
12 glaucoma-related pigment dispersion syndrome 10.8 CYP1B1 PITX2
13 glaucoma 1, open angle, a 10.7 CYP1B1 MYOC OPTN
14 scleral staphyloma 10.7 OPTN PAX6
15 excessive tearing 10.7 CYP1B1 MYOC OPTN
16 optic nerve hypoplasia, bilateral 10.7 COL4A1 PAX6
17 corneal edema 10.7 CYP1B1 MYOC OPTN
18 early-onset glaucoma 10.7 CYP1B1 MYOC PITX2
19 primary angle-closure glaucoma 10.7 CYP1B1 MYOC OPTN
20 axenfeld-rieger syndrome, type 2 10.7 FOXC1 OPTN PITX2
21 low tension glaucoma 10.6 MYOC OPTN WDR36
22 coloboma, ocular, autosomal dominant 10.6 CYP1B1 PAX6
23 intestinal atresia 10.6 FOXC1 PAX6 PITX2
24 ritscher-schinzel syndrome 10.6 FOXC1 OPTN
25 persistent hyperplastic primary vitreous 10.6 FOXC1 PAX6 PITX2
26 traumatic glaucoma 10.6 OPTN PHEX
27 spitz nevus 10.6 HRAS MKI67
28 coloboma of macula 10.5 CYP1B1 OPTN PAX6
29 cornea plana 10.5 FOXC1 PITX2
30 hydrophthalmos 10.5 CYP1B1 FOXC1 OPTN PITX2
31 peters-plus syndrome 10.4 CYP1B1 FOXC1 PAX6 PITX2
32 hypochondriasis 10.3 NTF4 PHEX
33 lens disease 10.3 OPTN PAX6 PHEX
34 anterior segment dysgenesis 1 10.3 PAX6 PITX2
35 chronic closed-angle glaucoma 10.2 OPTN PHEX TGFB2
36 axenfeld-rieger syndrome 10.2 CYP1B1 FOXC1 OPTN PAX6 PITX2
37 aniridia 1 10.2 CYP1B1 FOXC1 OPTN PAX6 PITX2
38 cavernous sinus thrombosis 10.2 PTCRA SDC1
39 ameloblastic carcinoma 10.1 MKI67 SDC1
40 anterior segment dysgenesis 10.1 COL4A1 CYP1B1 FOXC1 PAX6 PITX2
41 phacogenic glaucoma 10.0 ELN OPTN PHEX
42 intraocular pressure quantitative trait locus 10.0 CYP1B1 FOXC1 MYOC OPTN PITX2 WDR36
43 primary congenital glaucoma 10.0 CYP1B1 FOXC1 MYOC OPTN PITX2 WDR36
44 neovascular glaucoma 9.9 OPTN TGFB2
45 ectropion 9.9
46 iris disease 9.9 FOXC1 OPTN PAX6 PHEX PITX2
47 ewing sarcoma 9.8 FOXC1 MYOC OPTN PAX6 TGFB2
48 solitary osseous plasmacytoma 9.8 PTCRA SDC1
49 chromosome 16p13.3 deletion syndrome, proximal 9.8
50 corneal dystrophy 9.8

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



Diseases related to Juvenile Glaucoma
Sources

Symptoms & Phenotypes for Juvenile Glaucoma

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MGI Mouse Phenotypes related to Juvenile Glaucoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 PHEX PITX2 PNPLA6 SDC1 TGFB2 UBL4A
2 mortality/aging MP:0010768 9.77 COL4A1 FOXC1 HRAS NTF4 OPTN PAX6
3 no phenotypic analysis MP:0003012 9.17 HRAS MKI67 MYOC OPTN PITX2 PTCRA
Sources

Drugs & Therapeutics for Juvenile Glaucoma

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

(show all 32)
# 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
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
5
Timolol Approved Phase 3 26839-75-8 33624 5478
6
Travoprost Approved Phase 3,Phase 1 157283-68-6 5282226
7 tannic acid Approved, Nutraceutical Phase 3
8 Antihypertensive Agents Phase 3,Phase 2,Phase 1
9 Ophthalmic Solutions Phase 3,Phase 2,Phase 1,Early Phase 1
10 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
11 Adrenergic Agents Phase 3
12 Adrenergic Antagonists Phase 3
13 Adrenergic beta-Antagonists Phase 3
14 Anti-Arrhythmia Agents Phase 3
15 Neurotransmitter Agents Phase 3
16
Dorzolamide Approved Phase 2 120279-96-1 3154 5284549
17
Latanoprost Approved, Investigational Phase 2 130209-82-4 5282380 5311221
18 Carbonic Anhydrase Inhibitors Phase 2
19
Nitrous oxide Approved, Vet_approved Early Phase 1 10024-97-2 948
20
Sevoflurane Approved, Vet_approved Early Phase 1 28523-86-6 5206
21
Tetracaine Approved, Vet_approved Early Phase 1 94-24-6 5411
22
Menthol Approved Not Applicable 2216-51-5 16666
23 Analgesics Early Phase 1
24 Analgesics, Non-Narcotic Early Phase 1
25 Anesthetics Early Phase 1
26 Anesthetics, General Early Phase 1
27 Anesthetics, Inhalation Early Phase 1
28 Anesthetics, Local Early Phase 1
29 Central Nervous System Depressants Early Phase 1
30 Peripheral Nervous System Agents Early Phase 1
31 Platelet Aggregation Inhibitors Early Phase 1
32 Tetrahydrozoline Early Phase 1

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
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 Bevacizumab;Control
3 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
4 Treatment Protocol for Non-Metastatic Unilateral Retinoblastoma Recruiting NCT03475121 Phase 3
5 Efficacy and Safety of Topically Applied Medical Therapy for the Treatment of Pediatric Glaucoma Unknown status NCT01527682 Phase 2 Latanoprost, Dorzolamide
6 Combined Trab+Trab Versus Combined Trab+Trab With Subconjunctival Implantation of Ologen for Primary Congenital Glaucoma Unknown status NCT02121171 Phase 1
7 Comparison Between Deep Sclerectomy and Traditional Trabeculotomy & Trabeculectomy in Congenital Glaucoma Unknown status NCT01460017 Phase 1
8 Pharmacokinetic and Safety Study of Travoprost 0.004% in Pediatric Glaucoma Patients Completed NCT01658839 Phase 1 Travoprost ophthalmic solution, 0.004% (new formulation)
9 The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
10 Endoscopic Goniotomy for Infantile Glaucoma Completed NCT00338533 Not Applicable
11 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
12 The Measurement of Intraocular Pressure in Normal Children Under General Anesthesia With and Without Nitrous Oxide and Anesthetic Eye Drops Completed NCT01925391 Early Phase 1 Tono-pen XL Applanation tonometer + Ocu-film +
13 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Completed NCT02945176 Not Applicable
14 Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases Completed NCT00076271
15 mRNA Expression in Lymphocytes of Glaucoma Patients Completed NCT00327509
16 Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France Recruiting NCT03077789 Not Applicable
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 Not Applicable
19 Aqueous Humor Dynamics and Biometric Parameters in Eyes of Children Recruiting NCT01290588
20 Repository for Inherited Eye Diseases Active, not recruiting NCT00378742
21 Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Not yet recruiting NCT03541551 Not Applicable
22 Ologen® Collagen Matrix Versus Mitomycin-C in Patients With Juvenile-onset Open Angle Glaucoma Not yet recruiting NCT03548805 Not Applicable

Search NIH Clinical Center for Juvenile Glaucoma

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Genetic Tests for Juvenile Glaucoma

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Anatomical Context for Juvenile Glaucoma

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MalaCards organs/tissues related to Juvenile Glaucoma:

41
Eye, Testes, Tonsil
Sources

Publications for Juvenile Glaucoma

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Articles related to Juvenile Glaucoma:

(show top 50) (show all 72)
# Title Authors Year
1
22q11.2 microduplication syndrome and juvenile glaucoma. ( 29902089 )
2018
2
Comparison of EX-PRESS Shunt and Trabeculectomy With Mitomycin-C in Congenital and Juvenile Glaucoma. ( 28146442 )
2017
3
Anteriorization of the Normally Acting Inferior Oblique Muscles to Treat Dissociated Vertical Deviation Associated With Juvenile Glaucoma. ( 28991354 )
2017
4
Changes in the thickness of the macular ganglion cell complex and retinal nerve fiber layer over time after surgery in a case of juvenile glaucoma. ( 29503896 )
2016
5
Risk of perimetric blindness among juvenile glaucoma patients. ( 25664420 )
2015
6
Juvenile Glaucoma: At the Crossroads of Microinvasive and Traditional Glaucoma Surgeries: July consultation #1. ( 26287895 )
2015
7
Evaluation of corneal endothelium in adolescents with juvenile glaucoma. ( 25642345 )
2015
8
Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma. ( 23218183 )
2013
9
Congenital iris ectropion associated with juvenile glaucoma. ( 20676730 )
2011
10
Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations. ( 21596299 )
2011
11
Juvenile glaucoma in a child with caudal regression syndrome. ( 20809909 )
2011
12
Combined cilioretinal artery and central vein occlusions in juvenile glaucoma. ( 21911678 )
2011
13
Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome. ( 20569021 )
2010
14
Comparison of optic disc topography before and after antiglaucoma treatment in juvenile glaucoma. ( 20383844 )
2010
15
Reduced expression of Pax6 in lens and cornea of mutant mice leads to failure of chamber angle development and juvenile glaucoma. ( 20538882 )
2010
16
Congenital iris ectropion associated with juvenile glaucoma. ( 19213275 )
2009
17
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis. ( 19668597 )
2009
18
Relationship between GDx VCC and Stratus OCT in juvenile glaucoma. ( 19229266 )
2009
19
Ultrastructure of connective tissue of eye drainage system in ophthalmic hypertension associated with primary juvenile glaucoma. ( 19039948 )
2008
20
Glycosaminoglycans of the trabecular meshwork of the eye in primary juvenile glaucoma. ( 18225769 )
2007
21
An atypical presentation of lattice corneal dystrophy in a patient with juvenile glaucoma. ( 16167073 )
2006
22
Goldenhar's sequence with associated juvenile glaucoma in Turner's syndrome. ( 16333176 )
2005
23
Bilateral juvenile glaucoma with iridotrabecular dysgenesis, congenital ectropion uveae, and thickened corneal nerves. ( 15618973 )
2005
24
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. ( 16278894 )
2005
25
[Coding sequence analysis of CYP1B1 exon III in the Polish population of patients with primary congenital and juvenile glaucoma]. ( 15636228 )
2004
26
Hereditary motor and sensory neuropathy associated with juvenile glaucoma. ( 11594963 )
2001
27
Surgical outcomes of trabeculotomy combined with sinusotomy for juvenile glaucoma. ( 11583673 )
2001
28
A DIDMOAD syndrome family with juvenile glaucoma and myopia findings. ( 10990058 )
2000
29
Ultrastructural changes in the trabecular meshwork of juvenile glaucoma. ( 9176894 )
1997
30
Juvenile glaucoma linked to the GLC1A gene on chromosome 1q in a Panamanian family. ( 9063261 )
1997
31
Juvenile glaucoma linked to GLCIA in a Panamanian family. ( 8981704 )
1996
32
Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31. ( 9004141 )
1996
33
Genetic heterogeneity in Hispanic families with autosomal dominant juvenile glaucoma. ( 8905848 )
1996
34
Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. ( 9098278 )
1995
35
Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees. ( 8088822 )
1994
36
Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. ( 8479711 )
1993
37
The choice of surgical procedure in congenital, infantile, and juvenile glaucoma. ( 1996473 )
1991
38
The choice of surgical procedure in congenital, infantile, and juvenile glaucoma. ( 2366246 )
1990
39
Juvenile glaucoma, race, and refraction. ( 2909022 )
1989
40
Successful treatment of functional amblyopia associated with juvenile glaucoma. ( 3360343 )
1988
41
Retinal venous-venous anastomoses and capillary aneurysms in juvenile glaucoma. ( 3670801 )
1987
42
Surgical technique for advanced juvenile glaucoma. ( 6703967 )
1984
43
Developmental immaturity of the trabecular meshwork in juvenile glaucoma. ( 6742083 )
1984
44
Cyclocryotherapy in juvenile glaucoma. ( 6676264 )
1983
45
[Rubinstein-Taybi syndrome and juvenile glaucoma]. ( 6887749 )
1983
46
Congenital nonprogressive facial hemiatrophy with ipsilateral eye abnormalities and juvenile glaucoma. ( 110207 )
1979
47
Congenital, infantile, and juvenile glaucoma. ( 545209 )
1979
48
Juvenile glaucoma revisited. ( 686141 )
1978
49
Juvenile glaucoma in the Rubinstein-Taybi syndrome. ( 1018193 )
1976
50
Posterior polymorphous corneal dystrophy and juvenile glaucoma: a case report and brief review of the literature. ( 802930 )
1976
Sources

Variations for Juvenile Glaucoma

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Expression for Juvenile Glaucoma

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Search GEO for disease gene expression data for Juvenile Glaucoma.
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Pathways for Juvenile Glaucoma

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

# Super pathways Score Top Affiliating Genes
1
AGE-RAGE signaling pathway in diabetic complications 37
10.79 COL4A1 HRAS TGFB2
Sources

GO Terms for Juvenile Glaucoma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.92 COL4A1 ELN MYOC TGFB2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.8 COL4A1 FOXC1 PAX6 PITX2
2 cell proliferation GO:0008283 9.8 ELN FOXC1 HRAS MKI67 TGFB2
3 camera-type eye development GO:0043010 9.61 FOXC1 PAX6 PITX2
4 cardiac muscle cell proliferation GO:0060038 9.51 FOXC1 TGFB2
5 collagen fibril organization GO:0030199 9.5 CYP1B1 FOXC1 TGFB2
6 salivary gland morphogenesis GO:0007435 9.48 PAX6 TGFB2
7 iris morphogenesis GO:0061072 9.46 PAX6 PITX2
8 lacrimal gland development GO:0032808 9.37 FOXC1 PAX6
9 eye development GO:0001654 9.33 FOXC1 PAX6 TGFB2
10 retinal blood vessel morphogenesis GO:0061304 9.26 COL4A1 CYP1B1
11 animal organ morphogenesis GO:0009887 9.26 ELN HRAS PAX6 PITX2
12 odontogenesis GO:0042476 8.8 PITX2 SDC1 TGFB2

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

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 8.92 HRAS MKI67 OPTN SDC1
Sources

Sources for Juvenile Glaucoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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