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MCID: JVN008
MIFTS: 50

Juvenile Glaucoma

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

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MalaCards integrated aliases for Juvenile Glaucoma:

Name: Juvenile Glaucoma 12 58 15
Glaucoma of Childhood 12 29 6 70
Hydrophthalmos 70

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:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1068
UMLS via Orphanet 71 C2981140
Orphanet 58 ORPHA98977
UMLS 70 C0020302 C2981140
Sources

Summaries for Juvenile Glaucoma

About this section
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 tannic acid and Travoprost have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and liver, and related phenotypes are optic neuropathy and peripheral visual field loss

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
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 127)
# Related Disease Score Top Affiliating Genes
1 glaucoma 1, open angle, a 32.1 OPTN MYOC CYP1B1
2 glaucoma 3, primary infantile, b 32.0 LTBP2 CYP1B1
3 anterior segment dysgenesis 4 31.6 PITX2 FOXC1 CRYAA ASB10
4 hydrophthalmos 31.2 WDR36 PITX2 PAX6 MYOC LTBP3 LTBP2
5 glaucoma 3, primary congenital, a 30.7 WDR36 PXDN PITX2 PAX6 OPTN MYOC
6 intraocular pressure quantitative trait locus 30.5 WDR36 PITX2 PAX6 OPTN MYOC LTBP2
7 ocular hypertension 30.4 WDR36 OPTN MYOC CRYAA
8 corneal edema 30.1 MYOC LTBP2 CYP1B1
9 myopia 30.1 WDR36 SCO2 PAX6 MYOC LTBP2 CRYAA
10 steroid-induced glaucoma 30.0 WDR36 MYOC CYP1B1 CRYAA
11 open-angle glaucoma 29.9 WDR36 OPTN MYOC LTBP2 LOXL1 FOXC1
12 anisometropia 29.9 SCO2 PAX6 CRYAA
13 amblyopia 29.8 PITX3 PAX6 FOXE3 CRYAA
14 megalocornea 29.6 WDR36 PITX2 MYOC LTBP3 LTBP2 FOXC1
15 glaucoma-related pigment dispersion syndrome 29.2 WDR36 PITX2 OPTN MYOC LOXL1 FOXC1
16 glaucoma, primary open angle 29.2 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
17 aniridia 1 28.9 PITX3 PITX2 PAX6 MYOC LTBP3 LTBP2
18 primary congenital glaucoma 28.6 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
19 cataract 28.6 TDRD7 PXDN PITX3 PITX2 PEX5 PAX6
20 ackerman syndrome 11.3
21 pyramidal molars-abnormal upper lip syndrome 11.3
22 anterior segment dysgenesis 3 11.0
23 early-onset glaucoma 10.3 PITX2 MYOC CYP1B1
24 geleophysic dysplasia 3 10.3 LTBP3 LTBP2
25 geleophysic dysplasia 1 10.3 LTBP3 LTBP2
26 witkop syndrome 10.3 LTBP3 LTBP2
27 geleophysic dysplasia 2 10.3 LTBP3 LTBP2
28 morgagni cataract 10.3 LOXL1 CRYAA
29 peripheral retinal degeneration 10.3 WDR36 MYOC
30 primary angle-closure glaucoma 10.3 OPTN MYOC CYP1B1
31 phacolytic glaucoma 10.3 PXDN FOXE3
32 cornea plana 10.3 PITX2 FOXC1 CRYAA
33 acquired color blindness 10.2 PITX2 PAX6 FOXC1
34 isolated aniridia 10.2 PAX6 FOXC1
35 intestinal atresia 10.2 PITX2 PAX6 FOXC1
36 gillespie syndrome 10.2 PITX2 PAX6 FOXC1
37 congenital aphakia 10.2 PAX6 FOXE3 CRYAA
38 chronic closed-angle glaucoma 10.2 MYOC LOXL1 FOXE3
39 traumatic glaucoma 10.2 MYOC LTBP2 LOXL1 CYP1B1
40 microphthalmia, isolated 2 10.2 WDR36 PAX6 MYOC CYP1B1
41 yemenite deaf-blind hypopigmentation syndrome 10.2
42 ayme-gripp syndrome 10.2 PITX3 CRYAA
43 esotropia 10.2 PAX6 FOXE3 CRYAA
44 heritable thoracic aortic disease 10.2 LTBP3 FOXE3
45 eye accommodation disease 10.2 FOXE3 CRYAA
46 phimosis 10.2 CYP1B1 CRYAA
47 acute closed-angle glaucoma 10.2 PXDN OPTN MYOC CYP1B1
48 cranial nerve disease 10.2 WDR36 OPTN MYOC CRYAA
49 anterior segment dysgenesis 2 10.2 PITX3 FOXE3
50 aniseikonia 10.1 PITX3 PAX6 FOXE3

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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Human phenotypes related to Juvenile Glaucoma:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0001138
2 peripheral visual field loss 58 31 frequent (33%) Frequent (79-30%) HP:0007994
3 abnormal anterior chamber morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000593
4 abnormality iris morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000525
5 ocular hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0007906
6 open angle glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0012108
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 temporal optic disc pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0012511
10 increased cup-to-disc ratio 58 31 occasional (7.5%) Occasional (29-5%) HP:0012796
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.56 FOXC1 LOXL1 LTBP2 LTBP3 PAX6 PEX5
2 pigmentation MP:0001186 9.55 FOXC1 PAX6 PITX2 PITX3 PXDN
3 vision/eye MP:0005391 9.36 CYP1B1 FOXC1 LOXL1 LTBP2 LTBP3 MYOC
Sources

Drugs & Therapeutics for Juvenile Glaucoma

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 3 1401-55-4
2
Travoprost Approved Phase 3 157283-68-6 5282226
3
Timolol Approved Phase 3 26839-75-8 33624 5478
4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
5 Anti-Arrhythmia Agents Phase 3
6 Adrenergic Antagonists Phase 3
7 Adrenergic beta-Antagonists Phase 3
8 Ophthalmic Solutions Phase 3
9 Antihypertensive Agents Phase 3
10 Neurotransmitter Agents Phase 3
11 Adrenergic Agents Phase 3
12 Pharmaceutical Solutions Phase 3
13 Mitomycins
14 Antibiotics, Antitubercular
15 Alkylating Agents
16 Anti-Bacterial Agents

Interventional clinical trials:

(show all 18)
# 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 Comparison Between The Outcome of Deep Sclerectomy and Traditional Trabeculotomy and Trabeculectomy Surgeries in Congenital Glaucoma Unknown status NCT01460017 Phase 1
4 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
5 Genetic Testing in Primary Congenital Glaucoma Patients Unknown status NCT01136460
6 Randomized Controlled Study to Evaluate Safety and Efficacy of Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Unknown status NCT03541551
7 Study of Gene, Inheritance Pattern and Genotype - Phenotype Correlations in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
8 Endoscopic Goniotomy for Infantile Glaucoma Completed NCT00338533
9 Surgical Outcomes of Visco-Circumferential-Suture-Trabeculotomy in Primary Congenital Glaucoma: A 3-year Randomized Controlled Study Completed NCT04683289
10 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
11 Microcatheter Assisted Circumferential Trabeculotomy in Congenital Glaucoma Completed NCT04116450
12 Histopathological Examination of Iris Tissue in Buphthalmos Completed NCT04011878
13 Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France Recruiting NCT03077789
14 INTEGRAL Study: A Longitudinal Study of Surgeries and Lasers in Glaucoma: Long-term Results and Success Predictors Analysed From a Large-scale Retrospective and Prospective Glaucoma Register Recruiting NCT04381611
15 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Active, not recruiting NCT03016156
16 Comparison of Surgical Treatment Options for Primary Congenital and Developmental Glaucomas Not yet recruiting NCT04647929
17 Surgery for Primary Congenital Glaucoma in Neonates:Randomized Controlled Study. Not yet recruiting NCT04709497
18 Histopathological Examination of Iris Tissue in Primary Congenital Glaucoma Not yet recruiting NCT04079725

Search NIH Clinical Center for Juvenile Glaucoma

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Genetic Tests for Juvenile Glaucoma

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Genetic tests related to Juvenile Glaucoma:

# Genetic test Affiliating Genes
1 Glaucoma of Childhood 29
Sources

Anatomical Context for Juvenile Glaucoma

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MalaCards organs/tissues related to Juvenile Glaucoma:

40
Eye, Endothelial, Liver
Sources

Publications for Juvenile Glaucoma

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Articles related to Juvenile Glaucoma:

(show top 50) (show all 301)
# Title Authors PMID Year
1
Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma. 61 6
23218183 2013
2
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. 6 61
11774072 2002
3
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. 61 6
11004290 2000
4
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) 61 6
9535666 1998
5
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes. 6
32832252 2020
6
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. 6
28448622 2017
7
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. 6
27272408 2016
8
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
9
Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases. 6
27243976 2016
10
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss. 6
25950505 2015
11
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma. 6
25091052 2015
12
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. 6
24281366 2014
13
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. 6
23218701 2013
14
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population. 6
23922489 2013
15
Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes. 6
22004014 2012
16
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma. 6
21854771 2011
17
CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited. 6
21600657 2011
18
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. 6
21081970 2011
19
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. 6
21850185 2011
20
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. 6
19643970 2010
21
Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. 6
19807744 2009
22
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. 6
19234632 2009
23
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. 6
18537981 2008
24
Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma. 6
17499207 2007
25
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. 6
17591938 2007
26
Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals. 6
17210859 2007
27
Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma. 6
16401791 2006
28
Myocilin gene implicated in primary congenital glaucoma. 6
15733270 2005
29
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 6
15342693 2004
30
Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients. 6
15025728 2004
31
Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma. 6
15037581 2004
32
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. 6
15255109 2004
33
Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin. 6
12522550 2003
34
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. 6
12372064 2002
35
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. 6
11535458 2001
36
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. 6
11403040 2001
37
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
38
Genetic screening in a large family with juvenile onset primary open angle glaucoma. 6
10873982 2000
39
Novel mutation in the MYOC gene in primary open glaucoma patients. 6
10819638 2000
40
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
41
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. 6
10227395 1999
42
Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree. 6
9754180 1998
43
Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. 6
9697688 1998
44
Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France. 6
9556305 1998
45
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
46
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. 6
9463332 1998
47
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. 6
9328473 1997
48
Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. 6
9345106 1997
49
Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma. 6
9361308 1997
50
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
Sources

Variations for Juvenile Glaucoma

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ClinVar genetic disease variations for Juvenile Glaucoma:

6 (show top 50) (show all 223)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP1B1 CYP1B1, 13-BP DEL, NT1410 Deletion Pathogenic 7728 GRCh37:
GRCh38:
2 CYP1B1 NM_000104.3(CYP1B1):c.1267A>T (p.Asn423Tyr) SNV Pathogenic 7743 rs104893629 GRCh37: 2:38298230-38298230
GRCh38: 2:38071087-38071087
3 CYP1B1 NM_000104.3(CYP1B1):c.783C>A (p.Phe261Leu) SNV Pathogenic 30223 rs1558603396 GRCh37: 2:38301749-38301749
GRCh38: 2:38074606-38074606
4 CYP1B1 NM_000104.3(CYP1B1):c.1302G>A (p.Trp434Ter) SNV Pathogenic 456638 rs893198212 GRCh37: 2:38298195-38298195
GRCh38: 2:38071052-38071052
5 CYP1B1 NM_000104.3(CYP1B1):c.1345del (p.Asp449fs) Deletion Pathogenic 456639 rs749073455 GRCh37: 2:38298152-38298152
GRCh38: 2:38071009-38071009
6 CYP1B1 NM_000104.3(CYP1B1):c.1536_1541del (p.Pro513_Lys514del) Deletion Pathogenic 813355 rs751768343 GRCh37: 2:38297956-38297961
GRCh38: 2:38070813-38070818
7 CYP1B1 NM_000104.4(CYP1B1):c.1044-3C>G SNV Pathogenic 973773 GRCh37: 2:38298456-38298456
GRCh38: 2:38071313-38071313
8 CYP1B1 NM_000104.4(CYP1B1):c.1460T>C (p.Leu487Pro) SNV Pathogenic 973774 GRCh37: 2:38298037-38298037
GRCh38: 2:38070894-38070894
9 CYP1B1 NM_000104.3(CYP1B1):c.-285C>T SNV Pathogenic 813357 rs1573277080 GRCh37: 2:38303205-38303205
GRCh38: 2:38076063-38076063
10 CYP1B1 CYP1B1, 1-BP DEL, 3979A Deletion Pathogenic 7742 GRCh37:
GRCh38:
11 CYP1B1 NM_000104.3(CYP1B1):c.694G>C (p.Gly232Arg) SNV Pathogenic 7740 rs104893628 GRCh37: 2:38301838-38301838
GRCh38: 2:38074695-38074695
12 CYP1B1 CYP1B1, 1-BP DEL, 4339G Deletion Pathogenic 7738 GRCh37:
GRCh38:
13 CYP1B1 NM_000104.3(CYP1B1):c.1093G>T (p.Gly365Trp) SNV Pathogenic 7732 rs55771538 GRCh37: 2:38298404-38298404
GRCh38: 2:38071261-38071261
14 CYP1B1 CYP1B1, 10-BP DUP, NT1546 Duplication Pathogenic 7731 GRCh37:
GRCh38:
15 CYP1B1 CYP1B1, 1-BP INS, 1209C Insertion Pathogenic 7729 GRCh37:
GRCh38:
16 CYP1B1 NM_000104.3(CYP1B1):c.1063_1075del (p.Arg355fs) Deletion Pathogenic 417858 rs1064792896 GRCh37: 2:38298422-38298434
GRCh38: 2:38071279-38071291
17 CYP1B1 NM_000104.3(CYP1B1):c.1168C>T (p.Arg390Cys) SNV Pathogenic 335952 rs148542782 GRCh37: 2:38298329-38298329
GRCh38: 2:38071186-38071186
18 MYOC NM_000261.2(MYOC):c.1440C>A (p.Asn480Lys) SNV Pathogenic 7951 rs74315332 GRCh37: 1:171605140-171605140
GRCh38: 1:171636000-171636000
19 MYOC NM_000261.2(MYOC):c.1010A>G (p.Gln337Arg) SNV Pathogenic 7953 rs74315335 GRCh37: 1:171605570-171605570
GRCh38: 1:171636430-171636430
20 MYOC NM_000261.2(MYOC):c.1267A>G (p.Lys423Glu) SNV Pathogenic 7954 rs74315336 GRCh37: 1:171605313-171605313
GRCh38: 1:171636173-171636173
21 MYOC NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg) SNV Pathogenic 7956 rs74315338 GRCh37: 1:171605283-171605283
GRCh38: 1:171636143-171636143
22 MYOC NM_000261.2(MYOC):c.144G>T (p.Gln48His) SNV Pathogenic 7958 rs74315339 GRCh37: 1:171621608-171621608
GRCh38: 1:171652468-171652468
23 MYOC NM_000261.2(MYOC):c.734G>A (p.Cys245Tyr) SNV Pathogenic 7959 rs74315340 GRCh37: 1:171605846-171605846
GRCh38: 1:171636706-171636706
24 MYOC NM_000261.2(MYOC):c.754G>A (p.Gly252Arg) SNV Pathogenic 7960 rs74315341 GRCh37: 1:171605826-171605826
GRCh38: 1:171636686-171636686
25 MYOC NM_000261.2(MYOC):c.1138G>C (p.Asp380His) SNV Pathogenic 7961 rs121909194 GRCh37: 1:171605442-171605442
GRCh38: 1:171636302-171636302
26 MYOC NM_000261.2(MYOC):c.1430T>A (p.Ile477Asn) SNV Pathogenic 30205 rs74315331 GRCh37: 1:171605150-171605150
GRCh38: 1:171636010-171636010
27 LTBP2 NM_000428.3(LTBP2):c.5376del (p.Cys1793fs) Deletion Pathogenic 126959 rs137854895 GRCh37: 14:74967677-74967677
GRCh38: 14:74500974-74500974
28 MYOC NM_000261.2(MYOC):c.1430T>G (p.Ile477Ser) SNV Pathogenic 7950 rs74315331 GRCh37: 1:171605150-171605150
GRCh38: 1:171636010-171636010
29 MYOC NM_000261.2(MYOC):c.1091G>T (p.Gly364Val) SNV Pathogenic 7947 rs121909193 GRCh37: 1:171605489-171605489
GRCh38: 1:171636349-171636349
30 MYOC NM_000261.2(MYOC):c.1309T>C (p.Tyr437His) SNV Pathogenic 7946 rs74315328 GRCh37: 1:171605271-171605271
GRCh38: 1:171636131-171636131
31 FOXC1 NM_001453.3(FOXC1):c.697del (p.Cys233fs) Deletion Pathogenic 973778 GRCh37: 6:1611377-1611377
GRCh38: 6:1611142-1611142
32 MYOC NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu) SNV Pathogenic 7948 rs74315330 GRCh37: 1:171605471-171605471
GRCh38: 1:171636331-171636331
33 MYOC NM_000261.2(MYOC):c.1099G>A (p.Gly367Arg) SNV Pathogenic 7952 rs74315334 GRCh37: 1:171605481-171605481
GRCh38: 1:171636341-171636341
34 CYP1B1 NM_000104.3(CYP1B1):c.868dup (p.Arg290fs) Duplication Pathogenic 68468 rs587778875 GRCh37: 2:38301663-38301664
GRCh38: 2:38074520-38074521
35 CYP1B1 NM_000104.3(CYP1B1):c.535del (p.Ala179fs) Deletion Pathogenic 523943 rs771076928 GRCh37: 2:38301997-38301997
GRCh38: 2:38074854-38074854
36 CYP1B1 NM_000104.3(CYP1B1):c.1405C>T (p.Arg469Trp) SNV Pathogenic 7733 rs28936701 GRCh37: 2:38298092-38298092
GRCh38: 2:38070949-38070949
37 CYP1B1 NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) SNV Pathogenic 7730 rs28936700 GRCh37: 2:38302350-38302350
GRCh38: 2:38075207-38075207
38 CYP1B1 NM_000104.3(CYP1B1):c.1159G>A (p.Glu387Lys) SNV Pathogenic 7735 rs55989760 GRCh37: 2:38298338-38298338
GRCh38: 2:38071195-38071195
39 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) SNV Pathogenic 7737 rs72549387 GRCh37: 2:38302361-38302361
GRCh38: 2:38075218-38075218
40 CYP1B1 NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) SNV Pathogenic 7730 rs28936700 GRCh37: 2:38302350-38302350
GRCh38: 2:38075207-38075207
41 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) SNV Pathogenic 7737 rs72549387 GRCh37: 2:38302361-38302361
GRCh38: 2:38075218-38075218
42 CYP1B1 NM_000104.3(CYP1B1):c.1159G>A (p.Glu387Lys) SNV Pathogenic 7735 rs55989760 GRCh37: 2:38298338-38298338
GRCh38: 2:38071195-38071195
43 CYP1B1 NM_000104.3(CYP1B1):c.1064_1076del (p.Arg355fs) Deletion Pathogenic 282564 rs72549380 GRCh37: 2:38298421-38298433
GRCh38: 2:38071278-38071290
44 CYP1B1 NM_000104.3(CYP1B1):c.1200_1209dup (p.Thr404fs) Duplication Pathogenic 68466 rs587778873 GRCh37: 2:38298287-38298288
GRCh38: 2:38071144-38071145
45 MYOC NM_000261.2(MYOC):c.1357del (p.Tyr453fs) Deletion Pathogenic 1028647 GRCh37: 1:171605223-171605223
GRCh38: 1:171636083-171636083
46 MYOC NM_000261.2(MYOC):c.439C>T (p.Arg147Ter) SNV Pathogenic 1029746 GRCh37: 1:171621313-171621313
GRCh38: 1:171652173-171652173
47 MYOC NM_000261.2(MYOC):c.271C>T (p.Arg91Ter) SNV Pathogenic 1032275 GRCh37: 1:171621481-171621481
GRCh38: 1:171652341-171652341
48 CYP1B1 NM_000104.3(CYP1B1):c.1200_1209dup (p.Thr404fs) Duplication Pathogenic 68466 rs587778873 GRCh37: 2:38298287-38298288
GRCh38: 2:38071144-38071145
49 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) SNV Pathogenic/Likely pathogenic 7949 rs74315329 GRCh37: 1:171605478-171605478
GRCh38: 1:171636338-171636338
50 LTBP2 NM_000428.3(LTBP2):c.4597C>T (p.Gln1533Ter) SNV Likely pathogenic 667380 rs1446110883 GRCh37: 14:74970295-74970295
GRCh38: 14:74503592-74503592
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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
Elastic fibre formation 65
Show member pathways
 10.66 LTBP3 LTBP2 LOXL1
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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 collagen-containing extracellular matrix GO:0062023 9.02 PXDN MYOC LTBP3 LTBP2 LOXL1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.78 WDR36 PAX6 CYP1B1 CRYAA
2 anatomical structure morphogenesis GO:0009653 9.67 PITX3 PITX2 FOXE3 FOXC1
3 lens development in camera-type eye GO:0002088 9.58 PITX3 PAX6 FOXE3
4 camera-type eye development GO:0043010 9.56 PITX2 PAX6 FOXE3 FOXC1
5 lens morphogenesis in camera-type eye GO:0002089 9.52 TDRD7 PITX3
6 lens fiber cell differentiation GO:0070306 9.51 TDRD7 PITX3
7 cornea development in camera-type eye GO:0061303 9.49 PAX6 FOXE3
8 positive regulation of core promoter binding GO:1904798 9.46 PAX6 FOXC1
9 collagen fibril organization GO:0030199 9.46 PXDN LOXL1 FOXC1 CYP1B1
10 lacrimal gland development GO:0032808 9.43 PAX6 FOXC1
11 trabecular meshwork development GO:0002930 9.32 FOXE3 CYP1B1
12 iris morphogenesis GO:0061072 9.13 PITX2 PAX6 FOXE3
13 eye development GO:0001654 8.92 SCO2 PAX6 FOXE3 FOXC1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.02 PITX3 PITX2 PAX6 FOXE3 FOXC1
Sources

Sources for Juvenile Glaucoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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