GLC3A
MCID: GLC075
MIFTS: 43

Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset (GLC3A) malady

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

Aliases & Classifications for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

Aliases & Descriptions for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

Name: Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 54 29 13
Congenital Glaucoma 56 66 29
Glaucoma 3, Primary Congenital, a 66 69
Primary Congenital Glaucoma 56 69
Glaucoma, Congenital 50 52
Buphthalmos 56 66
Primary Infantile Glaucoma Type 3a 66
Primary Congenital Glaucoma 3a 66
Hydrophthalmos 69
Buphthalmia 56
Buphthalmus 56
Glc3a 66
Glc3 66

Characteristics:

Orphanet epidemiological data:

56
congenital glaucoma
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (France),1-9/100000 (Hungary),1-9/100000 (Italy),1-9/100000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Portugal),1-9/100000 (Spain),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
glaucoma 3a, primary open angle, congenital, juvenile, or adult onset:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 231300
Orphanet 56 ORPHA98976
ICD10 via Orphanet 34 Q15.0
MeSH 42 D005901
ICD10 33 Q15.0

Summaries for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

OMIM : 54 Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an... (231300) more...

MalaCards based summary : Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset, also known as congenital glaucoma, is related to peters anomaly and buphthalmos, and has symptoms including buphthalmos, increased intraocular pressure and late onset congenital glaucoma. An important gene associated with Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1). The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are normal and vision/eye

UniProtKB/Swiss-Prot : 66 Glaucoma 3, primary congenital, A: An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.

Related Diseases for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

Diseases in the Open-Angle Glaucoma family:

Glaucoma 1a, Primary Open Angle Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset
Glaucoma 1, Open Angle, P Glaucoma 1, Open Angle, I
Glaucoma 1, Open Angle, 1o Glaucoma, Primary Open Angle, Juvenile-Onset, 2

Diseases related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
id Related Disease Score Top Affiliating Genes
1 peters anomaly 27.8 CYP1B1 FOXC1 LTBP2 MYOC OPTN PAX6
2 buphthalmos 12.3
3 aniridia 11.1
4 glaucoma 1, open angle, e 10.9
5 glaucoma 3, primary infantile, b 10.8
6 sturge-weber syndrome, somatic, mosaic 10.8
7 glaucoma 3, primary congenital, d 10.8
8 glaucoma 3, primary congenital, e 10.8
9 hereditary xanthinuria 10.2 CYP1B1 MYOC
10 baraitser-winter syndrome 10.1 CYP1B1 OPTN
11 nuchal bleb, familial 10.1 LTBP2 OPTN
12 neurofibromatosis 10.1
13 olecranon bursitis 10.1 LTBP2 OPTN
14 mechanical strabismus 10.1 MYOC OPTN
15 mucoepidermoid esophageal carcinoma 10.1 TEK TYR
16 scapuloperoneal syndrome, myopathic type 10.0 FOXC1 OPTN
17 thyroid dyshormonogenesis 3 10.0 FOXC1 OPTN
18 pituitary hormone deficiency, combined, 4 10.0 CYP1B1 MYOC OPTN
19 kcnj10-related pendred syndrome 10.0 FOXC1 PAX6
20 acute poststreptococcal glomerulonephritis 10.0 CYP1B1 MYOC OPTN
21 lactocele 10.0 CYP1B1 MYOC OPTN
22 colorectal cancer 5 10.0 CYP1B1 MYOC OPTN
23 morbid obesity and spermatogenic failure 10.0 MYOC OPTN
24 allergic contact dermatitis of eyelid 10.0 MYOC OPTN
25 primary congenital glaucoma 9.9
26 orbital granuloma 9.9 FOXC1 PAX6
27 aphakia, congenital primary 9.9 FOXC1 PAX6
28 splenic tuberculosis 9.9 MYOC OPTN
29 cervical incompetence 9.9 PAX6 TYR
30 cataract 9.9
31 joubert syndrome 6 9.9 OPTN PAX6
32 red-green color vision defects 9.9 CYP1B1 FOXC1 LTBP2 MYOC
33 cornea plana 9.9 FOXC1 PAX6
34 meier-gorlin syndrome 1 9.9 OPTN PAX6
35 jph2-related familial hypertrophic cardiomyopathy 9.9 CYP1B1 FOXC1 PAX6
36 myopia 7 9.8 CYP1B1 FOXC1 PAX6
37 amyotrophic neuralgia 9.8 OPTN PAX6
38 retinoblastoma 9.8
39 opisthorchiasis 9.8 CYP1B1 LTBP2 MYOC OPTN
40 idiopathic corneal edema 9.8 CYP1B1 LTBP2 MYOC OPTN
41 cornelia de lange syndrome 5 9.8 CYP1B1 OPTN PAX6
42 conjunctival folliculosis 9.8 CYP1B1 FOXC1 LTBP2 OPTN
43 nevoid hypermelanosis, linear and whorled 9.8 CYP1B1 FOXC1 MYOC OPTN
44 adult liposarcoma 9.8 MYOC OPTN PAX6
45 choroiditis 9.8
46 endotheliitis 9.8
47 juvenile glaucoma 9.7
48 skin granular cell tumor 9.7 FOXC1 OPTN PAX6
49 muir-torre syndrome 9.7 CYP1B1 FOXC1 MYOC PAX6
50 pseudopterygium 9.7 OPTN PAX6

Graphical network of the top 20 diseases related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:



Diseases related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset

Symptoms & Phenotypes for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

Symptoms by clinical synopsis from OMIM:

231300

Clinical features from OMIM:

231300

Human phenotypes related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

32
id Description HPO Frequency HPO Source Accession
1 buphthalmos 32 HP:0000557
2 increased intraocular pressure 32 HP:0007906
3 late onset congenital glaucoma 32 HP:0008041

MGI Mouse Phenotypes related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.35 FOXC1 MYOC PAX6 TEK TYR
2 vision/eye MP:0005391 9.17 TYR CYP1B1 FOXC1 LTBP2 MYOC PAX6

Drugs & Therapeutics for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

Drugs for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset (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,Phase 1,Phase 2 216974-75-3
2 Angiogenesis Inhibitors Phase 4,Phase 1,Phase 2
3 Angiogenesis Modulating Agents Phase 4,Phase 1,Phase 2
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 29)
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 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Unknown status NCT02157987 Phase 1, Phase 2
5 Eye Muscle Surgery to Treat Congenital Nystagmus Completed NCT00001866 Phase 2
6 Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - (TEMPO) Recruiting NCT02484716 Phase 2
7 Comparison Between Deep Sclerectomy and Traditional Trabeculotomy & Trabeculectomy in Congenital Glaucoma Unknown status NCT01460017 Phase 1
8 Combined Trab+Trab Versus Combined Trab+Trab With Subconjunctival Implantation of Ologen for Primary Congenital Glaucoma Active, not recruiting NCT02121171 Phase 1
9 The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
10 OCT-guided LALAK in Children Unknown status NCT01579643
11 Endoscopic Goniotomy for Infantile Glaucoma Completed NCT00338533
12 Mechanism of Aphakic and Pseudophakic Glaucoma in Pediatric Patients Completed NCT01136473
13 Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases Completed NCT00076271
14 mRNA Expression in Lymphocytes of Glaucoma Patients Completed NCT00327509
15 Long-term Postoperative Outcomes After Bilateral Congenital Cataract Surgery in Eyes With Microphthalmos Completed NCT01818037
16 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
17 Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens Completed NCT00001161
18 Effect of the Timing of Cataract Surgery on Complications in Patients With Bilateral Congenital Cataracts Completed NCT02581046
19 Clinical Trial : Complications of in the Bag IOL Versus Optic Capture of IOL in Pediatric Cataract Surgery Completed NCT02491918
20 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
21 Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia Completed NCT00265590
22 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460
23 Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France Recruiting NCT03077789
24 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Recruiting NCT03016156
25 Aqueous Humor Dynamics and Biometric Parameters in Eyes of Children Recruiting NCT01290588
26 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025
27 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Active, not recruiting NCT02945176
28 Study of an Intervention to Improve Problem List Accuracy and Use Active, not recruiting NCT01105923
29 Repository for Inherited Eye Diseases Suspended NCT00378742

Search NIH Clinical Center for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset

Genetic Tests for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

Genetic tests related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

id Genetic test Affiliating Genes
1 Glaucoma, Congenital 29
2 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 29

Anatomical Context for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

MalaCards organs/tissues related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

39
Eye

Publications for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

Variations for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

66 (show all 33)
id Symbol AA change Variation ID SNP ID
1 CYP1B1 p.Gly61Glu VAR_001244 rs28936700
2 CYP1B1 p.Gly365Trp VAR_001245 rs55771538
3 CYP1B1 p.Asp374Asn VAR_001246 rs28936413
4 CYP1B1 p.Arg469Trp VAR_001247 rs28936701
5 CYP1B1 p.Glu387Lys VAR_008352 rs55989760
6 CYP1B1 p.Arg390His VAR_008353 rs56010818
7 CYP1B1 p.Pro437Leu VAR_008354 rs56175199
8 CYP1B1 p.Arg368His VAR_016034 rs79204362
9 CYP1B1 p.Leu77Pro VAR_054229
10 CYP1B1 p.Ala115Pro VAR_054230 rs764338357
11 CYP1B1 p.Met132Arg VAR_054231
12 CYP1B1 p.Gln144Pro VAR_054233
13 CYP1B1 p.Gln144Arg VAR_054234 rs753847648
14 CYP1B1 p.Asp192Val VAR_054238
15 CYP1B1 p.Pro193Leu VAR_054239 rs529769268
16 CYP1B1 p.Val198Ile VAR_054240 rs59472972
17 CYP1B1 p.Asn203Ser VAR_054241
18 CYP1B1 p.Ser215Ile VAR_054242 rs72549384
19 CYP1B1 p.Glu229Lys VAR_054243 rs57865060
20 CYP1B1 p.Gly232Arg VAR_054244 rs104893628
21 CYP1B1 p.Ser239Arg VAR_054245
22 CYP1B1 p.Val320Leu VAR_054247 rs72549382
23 CYP1B1 p.Val364Met VAR_054253 rs72549379
24 CYP1B1 p.Ala388Thr VAR_054254
25 CYP1B1 p.Arg390Cys VAR_054255 rs148542782
26 CYP1B1 p.Arg390Ser VAR_054256 rs148542782
27 CYP1B1 p.Ile399Ser VAR_054257 rs72549378
28 CYP1B1 p.Asn423Tyr VAR_054260 rs104893629
29 CYP1B1 p.Arg444Gln VAR_054261 rs72549376
30 CYP1B1 p.Phe445Cys VAR_054262
31 CYP1B1 p.Gly466Asp VAR_054263 rs868208502
32 CYP1B1 p.Glu499Gly VAR_054264 rs72549372
33 MYOC p.Gln48His VAR_054272 rs74315339

ClinVar genetic disease variations for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 CYP1B1 CYP1B1, 13-BP DEL, NT1410 deletion Pathogenic
2 CYP1B1 CYP1B1, 1-BP INS, 1209C insertion Pathogenic
3 CYP1B1 NM_000104.3(CYP1B1): c.182G> A (p.Gly61Glu) single nucleotide variant Pathogenic rs28936700 GRCh37 Chromosome 2, 38302350: 38302350
4 CYP1B1 CYP1B1, 10-BP DUP, NT1546 duplication Pathogenic
5 CYP1B1 NM_000104.3(CYP1B1): c.1093G> T (p.Gly365Trp) single nucleotide variant Pathogenic rs55771538 GRCh37 Chromosome 2, 38298404: 38298404
6 CYP1B1 NM_000104.3(CYP1B1): c.1405C> T (p.Arg469Trp) single nucleotide variant Pathogenic rs28936701 GRCh37 Chromosome 2, 38298092: 38298092
7 CYP1B1 NM_000104.3(CYP1B1): c.1120G> A (p.Asp374Asn) single nucleotide variant Pathogenic rs104893622 GRCh37 Chromosome 2, 38298377: 38298377
8 CYP1B1 NM_000104.3(CYP1B1): c.1159G> A (p.Glu387Lys) single nucleotide variant Pathogenic rs55989760 GRCh37 Chromosome 2, 38298338: 38298338
9 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh37 Chromosome 2, 38302361: 38302361
10 CYP1B1 CYP1B1, 1-BP DEL, 4339G deletion Pathogenic
11 CYP1B1 NM_000104.3(CYP1B1): c.694G> C (p.Gly232Arg) single nucleotide variant Pathogenic rs104893628 GRCh37 Chromosome 2, 38301838: 38301838
12 CYP1B1 CYP1B1, 1-BP DEL, 3979A deletion Pathogenic
13 CYP1B1 NM_000104.3(CYP1B1): c.1267A> T (p.Asn423Tyr) single nucleotide variant Pathogenic rs104893629 GRCh37 Chromosome 2, 38298230: 38298230
14 CYP1B1 CYP1B1, PHE261LEU single nucleotide variant Pathogenic
15 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh37 Chromosome 2, 38298288: 38298297
16 LTBP2 NM_000428.2(LTBP2): c.5376delC (p.Cys1793Alafs) deletion Pathogenic rs137854895 GRCh37 Chromosome 14, 74967677: 74967677
17 CYP1B1 NM_000104.3(CYP1B1): c.1064_1076delGAGTGCAGGCAGA (p.Arg355Hisfs) deletion Pathogenic rs72549380 GRCh37 Chromosome 2, 38298421: 38298433
18 CYP1B1 NM_000104.3(CYP1B1): c.1063_1075delCGAGTGCAGGCAG (p.Arg355Asnfs) deletion Pathogenic GRCh37 Chromosome 2, 38298422: 38298434

Expression for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

Search GEO for disease gene expression data for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset.

Pathways for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

GO Terms for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

Biological processes related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.49 MYOC TEK
2 negative regulation of angiogenesis GO:0016525 9.48 FOXC1 TEK
3 camera-type eye development GO:0043010 9.46 FOXC1 PAX6
4 blood vessel development GO:0001568 9.43 FOXC1 PAX6
5 response to cAMP GO:0051591 9.4 TEK TYR
6 collagen fibril organization GO:0030199 9.37 CYP1B1 FOXC1
7 visual perception GO:0007601 9.33 CYP1B1 PAX6 TYR
8 eye development GO:0001654 9.32 FOXC1 PAX6
9 endochondral ossification GO:0001958 9.26 FOXC1 TEK
10 positive regulation of focal adhesion assembly GO:0051894 8.96 MYOC TEK
11 lacrimal gland development GO:0032808 8.62 FOXC1 PAX6

Molecular functions related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 8.96 CYP1B1 TYR
2 growth factor binding GO:0019838 8.62 LTBP2 TEK

Sources for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

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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