MCID: JVN008
MIFTS: 39

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 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:



External Ids:

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

Summaries for Juvenile Glaucoma

MalaCards based summary : Juvenile Glaucoma, also known as glaucoma of childhood, is related to glaucoma 3, primary congenital, a and anterior segment dysgenesis 4. An important gene associated with Juvenile Glaucoma is MYOC (Myocilin). The drugs Bevacizumab and Angiogenesis Modulating Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, tonsil and bone, and related phenotypes are homeostasis/metabolism and mortality/aging

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

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary congenital, a 32.1 PITX2 PAX6 OPTN MYOC FOXC1 CYP1B1
2 anterior segment dysgenesis 4 31.9 PITX2 FOXC1
3 open-angle glaucoma 29.2 WDR36 TGFB2 OPTN NTF4 MYOC ELN
4 glaucoma, primary open angle 28.8 WDR36 UBL4A TGFB2 PHEX OPTN MYOC
5 ackerman syndrome 11.8
6 glaucoma 3, primary infantile, b 11.1
7 anterior segment dysgenesis 3 11.1
8 acrofrontofacionasal dysostosis 10.3 CYP1B1 OPTN
9 anterior segment dysgenesis 5 10.3 PAX6 CYP1B1
10 isolated aniridia 10.2 PAX6 FOXC1
11 glaucoma-related pigment dispersion syndrome 10.2 CYP1B1 PITX2
12 excessive tearing 10.2 OPTN MYOC CYP1B1
13 glaucoma 1, open angle, a 10.2 OPTN MYOC CYP1B1
14 optic nerve hypoplasia, bilateral 10.2 PAX6 COL4A1
15 corneal edema 10.2 OPTN MYOC CYP1B1
16 early-onset glaucoma 10.2 PITX2 MYOC CYP1B1
17 primary angle-closure glaucoma 10.2 OPTN MYOC CYP1B1
18 axenfeld-rieger syndrome, type 2 10.2 PITX2 OPTN FOXC1
19 ritscher-schinzel syndrome 10.2 OPTN FOXC1
20 traumatic glaucoma 10.2 PHEX OPTN
21 intestinal atresia 10.2 PITX2 PAX6 FOXC1
22 anterior segment dysgenesis 1 10.2 PITX2 PAX6
23 coloboma of macula 10.2 CYP1B1 OPTN PAX6
24 coloboma, ocular, autosomal dominant 10.1 PAX6 CYP1B1
25 hydrophthalmos 10.1 PITX2 OPTN FOXC1 CYP1B1
26 autosomal recessive cutis laxa type iii 10.1 ELN OPTN
27 hypochondriasis 10.1 NTF4 PHEX
28 neovascular glaucoma 10.1 TGFB2 OPTN
29 axenfeld-rieger syndrome, type 3 10.1 PITX2 PAX6 FOXC1 CYP1B1
30 phimosis 10.1 CYP1B1 ELN
31 peters-plus syndrome 10.1 PITX2 PAX6 FOXC1 CYP1B1
32 uveal disease 10.1 PHEX PAX6 OPTN
33 lens disease 10.1 PHEX PAX6 OPTN
34 congenital aphakia 10.1 PAX6 OPTN
35 chronic closed-angle glaucoma 10.1 TGFB2 PHEX OPTN
36 low tension glaucoma 10.1 WDR36 PHEX OPTN MYOC
37 ameloblastic carcinoma 10.1 MKI67 SDC1
38 axenfeld-rieger syndrome 10.0 PITX2 PAX6 OPTN FOXC1 CYP1B1
39 aniridia 1 10.0 PITX2 PAX6 OPTN FOXC1 CYP1B1
40 optic nerve disease 10.0 UBL4A OPTN MYOC
41 cavernous sinus thrombosis 10.0 PTCRA SDC1
42 phacogenic glaucoma 10.0 PHEX OPTN ELN
43 anterior segment dysgenesis 10.0 PITX2 PAX6 FOXC1 CYP1B1 COL4A1
44 ectropion 10.0
45 orbital cellulitis 10.0 SDC1 PTCRA OPTN
46 acute orbital inflammation 10.0 SDC1 PTCRA OPTN
47 primary congenital glaucoma 10.0 WDR36 PITX2 OPTN MYOC FOXC1 CYP1B1
48 iris disease 10.0 PITX2 PHEX PAX6 OPTN FOXC1
49 ewing sarcoma 9.9 FOXC1 MYOC OPTN PAX6 TGFB2
50 solitary osseous plasmacytoma 9.9 SDC1 PTCRA

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



Diseases related to Juvenile Glaucoma

Symptoms & Phenotypes for Juvenile Glaucoma

MGI Mouse Phenotypes related to Juvenile Glaucoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 COL4A1 CYP1B1 FOXC1 NTF4 OPTN PAX6
2 mortality/aging MP:0010768 9.73 COL4A1 FOXC1 NTF4 OPTN PAX6 PHEX
3 vision/eye MP:0005391 9.23 COL4A1 CYP1B1 FOXC1 MYOC PAX6 PITX2

Drugs & Therapeutics for Juvenile Glaucoma

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

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4 216974-75-3
2 Angiogenesis Modulating Agents Phase 4
3 Angiogenesis Inhibitors Phase 4
4
Travoprost Approved Phase 3,Phase 1 157283-68-6 5282226
5
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
6
Timolol Approved Phase 3 26839-75-8 33624 5478
7 tannic acid Approved Phase 3
8
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
9
Topotecan Approved, Investigational Phase 3 123948-87-8, 119413-54-6 60700
10 Antihypertensive Agents Phase 3,Phase 2,Phase 1
11 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
12 Ophthalmic Solutions Phase 3,Phase 2,Phase 1,Early Phase 1
13 Neurotransmitter Agents Phase 3
14 Adrenergic Agents Phase 3
15 Anti-Arrhythmia Agents Phase 3
16 Adrenergic beta-Antagonists Phase 3
17 Adrenergic Antagonists Phase 3
18 Anti-Bacterial Agents Phase 2, Phase 3,Not Applicable
19 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Not Applicable
20 Antibiotics, Antitubercular Phase 2, Phase 3,Not Applicable
21 Mitomycins Phase 2, Phase 3,Not Applicable
22 Alkylating Agents Phase 2, Phase 3,Not Applicable
23 topoisomerase I inhibitors Phase 3
24 Topoisomerase Inhibitors Phase 3
25
Latanoprost Approved, Investigational Phase 2 130209-82-4 5311221 5282380
26
Dorzolamide Approved Phase 2 120279-96-1 5284549 3154
27 Carbonic Anhydrase Inhibitors Phase 2
28
Tetracaine Approved, Vet_approved Early Phase 1 94-24-6 5411
29
Sevoflurane Approved, Vet_approved Early Phase 1 28523-86-6 5206
30
Nitrous oxide Approved, Vet_approved Early Phase 1 10024-97-2 948
31 Peripheral Nervous System Agents Early Phase 1
32 Central Nervous System Depressants Early Phase 1
33 Anesthetics Early Phase 1
34 Anesthetics, Local Early Phase 1
35 Analgesics Early Phase 1
36 Platelet Aggregation Inhibitors Early Phase 1
37 Analgesics, Non-Narcotic Early Phase 1
38 Anesthetics, General Early Phase 1
39 Anesthetics, Inhalation Early Phase 1

Interventional clinical trials:

(show all 23)
# 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 Trabeculectomy With MMC Versus Ahmed Glaucoma Implant for Treatment of Pediatric Aphakic Glaucoma Completed NCT00371072 Phase 2, Phase 3
5 Treatment Protocol for Non-Metastatic Unilateral Retinoblastoma Recruiting NCT03475121 Phase 3
6 Efficacy and Safety of Topically Applied Medical Therapy for the Treatment of Pediatric Glaucoma Unknown status NCT01527682 Phase 2 Latanoprost, Dorzolamide
7 Combined Trab+Trab Versus Combined Trab+Trab With Subconjunctival Implantation of Ologen for Primary Congenital Glaucoma Unknown status NCT02121171 Phase 1
8 Comparison Between Deep Sclerectomy and Traditional Trabeculotomy & Trabeculectomy in Congenital Glaucoma Unknown status NCT01460017 Phase 1
9 Pharmacokinetic and Safety Study of Travoprost 0.004% in Pediatric Glaucoma Patients Completed NCT01658839 Phase 1 Travoprost ophthalmic solution, 0.004% (new formulation)
10 The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
11 Endoscopic Goniotomy for Infantile Glaucoma Completed NCT00338533 Not Applicable
12 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
13 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 +
14 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Completed NCT02945176 Not Applicable
15 Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases Completed NCT00076271
16 mRNA Expression in Lymphocytes of Glaucoma Patients Completed NCT00327509
17 Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France Recruiting NCT03077789 Not Applicable
18 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460
19 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Recruiting NCT03016156 Not Applicable
20 Aqueous Humor Dynamics and Biometric Parameters in Eyes of Children Recruiting NCT01290588
21 Repository for Inherited Eye Diseases Active, not recruiting NCT00378742
22 Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Not yet recruiting NCT03541551 Not Applicable
23 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

Genetic Tests for Juvenile Glaucoma

Anatomical Context for Juvenile Glaucoma

MalaCards organs/tissues related to Juvenile Glaucoma:

41
Eye, Tonsil, Bone

Publications for Juvenile Glaucoma

Articles related to Juvenile Glaucoma:

(show top 50) (show all 73)
# 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
Congenital nonprogressive facial hemiatrophy with ipsilateral eye abnormalities and juvenile glaucoma. ( 110207 )
1979
46
Congenital, infantile, and juvenile glaucoma. ( 545209 )
1979
47
Juvenile glaucoma revisited. ( 686141 )
1978
48
Juvenile glaucoma in the Rubinstein-Taybi syndrome. ( 1018193 )
1976
49
Posterior polymorphous corneal dystrophy and juvenile glaucoma: a case report and brief review of the literature. ( 802930 )
1976
50
Juvenile glaucoma associated with goniodysgenesis. ( 937432 )
1976

Variations for Juvenile Glaucoma

Expression for Juvenile Glaucoma

Search GEO for disease gene expression data for Juvenile Glaucoma.

Pathways for Juvenile Glaucoma

GO Terms for Juvenile Glaucoma

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.78 ELN FOXC1 MKI67 TGFB2
2 skeletal system development GO:0001501 9.67 FOXC1 PHEX TGFB2
3 camera-type eye development GO:0043010 9.54 FOXC1 PAX6 PITX2
4 cardiac muscle cell proliferation GO:0060038 9.46 FOXC1 TGFB2
5 salivary gland morphogenesis GO:0007435 9.43 PAX6 TGFB2
6 iris morphogenesis GO:0061072 9.4 PAX6 PITX2
7 collagen fibril organization GO:0030199 9.33 CYP1B1 FOXC1 TGFB2
8 lacrimal gland development GO:0032808 9.32 FOXC1 PAX6
9 retinal blood vessel morphogenesis GO:0061304 9.26 COL4A1 CYP1B1
10 eye development GO:0001654 9.13 FOXC1 PAX6 TGFB2
11 odontogenesis GO:0042476 8.8 PITX2 SDC1 TGFB2

Sources for Juvenile Glaucoma

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
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