GLC3A
MCID: GLC097
MIFTS: 57

Glaucoma 3, Primary Congenital, a (GLC3A)

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

Aliases & Classifications for Glaucoma 3, Primary Congenital, a

MalaCards integrated aliases for Glaucoma 3, Primary Congenital, a:

Name: Glaucoma 3, Primary Congenital, a 57 73 29 6 71
Glaucoma, Congenital 57 74 20 54 39
Congenital Glaucoma 58 73 29 6 32
Buphthalmos 57 12 58 73 15
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 57 73 29 13
Glaucoma, Primary Open Angle, Juvenile-Onset 73 6
Primary Congenital Glaucoma 58 71
Glc3a 57 73
Glc3 57 73
Glaucoma, Primary Open Angle, Adult-Onset 73
Glaucoma, Congenital, Primary, Type 3a 39
Primary Infantile Glaucoma Type 3a 73
Primary Congenital Glaucoma 3a 73
Glaucoma, Congenital; Glc3 57
Simple Buphthalmos 12
Hydrophthalmos 71
Buphthalmia 58
Buphthalmus 58

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

31
glaucoma 3, primary congenital, a:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:11211
OMIM® 57 231300
ICD9CM 34 743.21
MeSH 44 D005901
SNOMED-CT 67 204116009
ICD10 32 Q15.0
ICD10 via Orphanet 33 Q15.0
UMLS via Orphanet 72 C0020302
Orphanet 58 ORPHA98976
UMLS 71 C0020302 C0311251 C1533041 more

Summaries for Glaucoma 3, Primary Congenital, a

Disease Ontology : 12 A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.

MalaCards based summary : Glaucoma 3, Primary Congenital, a, also known as glaucoma, congenital, is related to glaucoma 1, open angle, a and megalocornea, and has symptoms including early vision loss An important gene associated with Glaucoma 3, Primary Congenital, a is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1), and among its related pathways/superpathways are O-linked glycosylation and N-Glycan biosynthesis. The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are glaucoma and nevus flammeus

OMIM® : 57 Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years of age), increased intraocular pressure, increased corneal diameter, enlarged globe, Haab striae (breaks in Descemet membrane), corneal edema, and optic nerve head cupping. Congenital glaucoma is a chronic disease and a serious cause of blindness worldwide (summary by Azmanov et al., 2011). (231300) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Primary juvenile glaucoma is glaucoma that develops due to ocular hypertension and is evident either at... more...

Related Diseases for Glaucoma 3, Primary Congenital, a

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 Glaucoma 3, Primary Congenital, a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 348)
# Related Disease Score Top Affiliating Genes
1 glaucoma 1, open angle, a 32.2 OPTN MYOC CYP1B1
2 megalocornea 31.8 WDR36 PITX2 MYOC LTBP3 LTBP2 FOXC1
3 aniridia 1 31.5 PITX2 PAX6 MYOC LTBP3 LTBP2 FOXC1
4 otopalatodigital syndrome, type ii 31.4 PITX2 FOXC1
5 walker-warburg syndrome 31.1 SRD5A3 POMT2 POMT1 FKTN DPM3 DOLK
6 corneal edema 31.0 TEK MYOC LTBP2 CYP1B1
7 open-angle glaucoma 31.0 WDR36 OPTN MYOC LTBP2 FOXC1 CYP1B1
8 glaucoma 3, primary infantile, b 30.8 TEK LTBP2 CYP1B1
9 primary angle-closure glaucoma 30.6 OPTN MYOC CYP1B1
10 glaucoma, primary open angle 30.6 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
11 intraocular pressure quantitative trait locus 30.5 WDR36 PITX2 PAX6 OPTN MYOC LTBP2
12 excessive tearing 30.5 WDR36 MYOC LTBP3 LTBP2 FOXC1 CYP1B1
13 eye disease 30.4 PITX2 PAX6 OPTN MYOC FOXC1 CYP1B1
14 glaucoma 1, open angle, d 30.3 OPTN MYOC LTBP2 CYP1B1
15 coloboma of macula 30.3 SRD5A3 PITX2 PAX6 FOXC1
16 early-onset glaucoma 30.3 PITX2 MYOC CYP1B1
17 steroid-induced glaucoma 30.2 WDR36 MYOC CYP1B1
18 persistent hyperplastic primary vitreous 30.2 PITX2 PAX6 FOXC1
19 axenfeld-rieger syndrome, type 2 30.1 WDR36 PITX2 FOXC1
20 primary congenital glaucoma 30.0 WDR36 TEK RMDN2 POMT1 PITX2 PAX6
21 corneal disease 30.0 PITX2 PAX6 FOXC1
22 keratitis, hereditary 30.0 PITX2 PAX6 MYOC FOXC1 CYP1B1
23 axenfeld-rieger syndrome 29.9 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
24 anterior segment dysgenesis 29.8 WDR36 PITX2 PAX6 MYOC LTBP3 LTBP2
25 optic nerve disease 29.8 WDR36 OPTN MYOC
26 juvenile glaucoma 29.8 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
27 peters-plus syndrome 29.3 POMT2 POMT1 PITX2 PAX6 MYOC LTBP3
28 hydrophthalmos 28.3 WDR36 SRD5A3 POMT2 POMT1 PITX2 PAX6
29 glaucoma 1, open angle, j 11.8
30 glaucoma 1, open angle, k 11.7
31 glaucoma 1, open angle, f 11.5
32 diabetes mellitus, neonatal, with congenital hypothyroidism 11.3
33 friedreich ataxia and congenital glaucoma 11.1
34 insulinomatosis and diabetes mellitus 11.0
35 sturge-weber syndrome 11.0
36 glaucoma 3, primary congenital, d 11.0
37 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 10.9
38 corneal dystrophy and perceptive deafness 10.9
39 ritscher-schinzel syndrome 1 10.9
40 muscular dystrophy-dystroglycanopathy , type a, 3 10.9
41 cardiomyopathy, infantile histiocytoid 10.9
42 lowry-maclean syndrome 10.9
43 fryns microphthalmia syndrome 10.9
44 corneal dystrophy, congenital stromal 10.9
45 acrofrontofacionasal dysostosis 10.9
46 aniridia and absent patella 10.9
47 aniridia 2 10.9
48 glaucoma 3, primary congenital, e 10.9
49 traumatic glaucoma 10.4 MYOC LTBP2 CYP1B1
50 acute closed-angle glaucoma 10.4 OPTN MYOC CYP1B1

Graphical network of the top 20 diseases related to Glaucoma 3, Primary Congenital, a:



Diseases related to Glaucoma 3, Primary Congenital, a

Symptoms & Phenotypes for Glaucoma 3, Primary Congenital, a

Human phenotypes related to Glaucoma 3, Primary Congenital, a:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
2 nevus flammeus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001052
3 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
4 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
5 buphthalmos 31 HP:0000557
6 ocular hypertension 31 HP:0007906
7 late onset congenital glaucoma 31 HP:0008041

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
buphthalmos
late onset congenital glaucoma
ocular globe large
increased intraocular pressure
early onset open-angle glaucoma

Clinical features from OMIM®:

231300 (Updated 05-Mar-2021)

Symptoms:

12
  • early vision loss

GenomeRNAi Phenotypes related to Glaucoma 3, Primary Congenital, a according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-3 9.66 TEK
2 Decreased viability GR00249-S 9.66 CYP1B1 DAG1 FKTN LTBP2 OPTN PITX2
3 Decreased viability GR00381-A-1 9.66 LTBP3 MYOC
4 Decreased viability GR00381-A-3 9.66 LTBP3
5 Decreased viability GR00386-A-1 9.66 DAG1 OPTN PAX6 POMT2
6 Decreased viability GR00402-S-2 9.66 DPM3 LTBP2 LTBP3 PITX2 POMT2 TEK

MGI Mouse Phenotypes related to Glaucoma 3, Primary Congenital, a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.16 DAG1 DOLK DPM3 FKTN FOXC1 LTBP2
2 embryo MP:0005380 10.06 DAG1 DOLK FKTN FOXC1 PAX6 PITX2
3 muscle MP:0005369 9.7 DAG1 FKTN FOXC1 PAX6 PITX2 POMT1
4 nervous system MP:0003631 9.7 B3GNT2 DAG1 DOLK FKTN FOXC1 PAX6
5 vision/eye MP:0005391 9.36 CYP1B1 DAG1 FOXC1 LTBP2 LTBP3 MYOC

Drugs & Therapeutics for Glaucoma 3, Primary Congenital, a

Drugs for Glaucoma 3, Primary Congenital, a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
2
tannic acid Approved Phase 3 1401-55-4
3
Travoprost Approved Phase 3 157283-68-6 5282226
4
Timolol Approved Phase 3 26839-75-8 33624 5478
5 Adrenergic Antagonists Phase 3
6 Adrenergic beta-Antagonists Phase 3
7 Ophthalmic Solutions Phase 3
8 Antihypertensive Agents Phase 3
9 Neurotransmitter Agents Phase 3
10 Adrenergic Agents Phase 3
11 Pharmaceutical Solutions Phase 3
12 Anti-Arrhythmia Agents Phase 3
13 Mitomycins
14 Antibiotics, Antitubercular
15 Anti-Bacterial Agents
16 Alkylating 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 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
4 Comparison Between The Outcome of Deep Sclerectomy and Traditional Trabeculotomy and Trabeculectomy Surgeries in Congenital Glaucoma Unknown status NCT01460017 Phase 1
5 Randomized Controlled Study to Evaluate Safety and Efficacy of Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Unknown status NCT03541551
6 Study of Gene, Inheritance Pattern and Genotype - Phenotype Correlations in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
7 Genetic Testing in Primary Congenital Glaucoma Patients Unknown status NCT01136460
8 Microcatheter Assisted Circumferential Trabeculotomy in Congenital Glaucoma Completed NCT04116450
9 Surgical Outcomes of Visco-Circumferential-Suture-Trabeculotomy in Primary Congenital Glaucoma: A 3-year Randomized Controlled Study Completed NCT04683289
10 Histopathological Examination of Iris Tissue in Buphthalmos Completed NCT04011878
11 Endoscopic Goniotomy for Infantile Glaucoma Completed NCT00338533
12 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
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 Histopathological Examination of Iris Tissue in Primary Congenital Glaucoma Not yet recruiting NCT04079725
18 Surgery for Primary Congenital Glaucoma in Neonates:Randomized Controlled Study. Not yet recruiting NCT04709497

Search NIH Clinical Center for Glaucoma 3, Primary Congenital, a

Genetic Tests for Glaucoma 3, Primary Congenital, a

Genetic tests related to Glaucoma 3, Primary Congenital, a:

# Genetic test Affiliating Genes
1 Glaucoma 3, Primary Congenital, a 29 CYP1B1
2 Congenital Glaucoma 29
3 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 29

Anatomical Context for Glaucoma 3, Primary Congenital, a

MalaCards organs/tissues related to Glaucoma 3, Primary Congenital, a:

40
Eye

Publications for Glaucoma 3, Primary Congenital, a

Articles related to Glaucoma 3, Primary Congenital, a:

(show top 50) (show all 129)
# Title Authors PMID Year
1
Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. 54 6 57
19807744 2009
2
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. 57 6 54
18537981 2008
3
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 6 54 57
15342693 2004
4
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. 54 6 57
12372064 2002
5
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. 54 6 57
10655546 2000
6
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. 54 57 6
10227395 1999
7
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. 54 57 6
9463332 1998
8
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. 54 57 6
9097971 1997
9
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. 57 6
21081970 2011
10
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. 6 57
19643970 2010
11
Null mutations in LTBP2 cause primary congenital glaucoma. 6 54
19361779 2009
12
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. 54 6
19234632 2009
13
Myocilin gene implicated in primary congenital glaucoma. 57 54
15733270 2005
14
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. 54 6
11774072 2002
15
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 54
9497261 1998
16
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
17
Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma. 57
25527694 2015
18
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. 57
25093588 2014
19
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. 6
20179738 2010
20
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. 6
19656777 2009
21
Profiling of WDR36 missense variants in German patients with glaucoma. 57
18172102 2008
22
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. 57
17718864 2007
23
Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. 57
16384942 2006
24
Serial axial length measurements in congenital glaucoma. 57
11730663 2001
25
Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. 57
9463798 1998
26
Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. 57
8586416 1995
27
Further analysis of familial transmission of congenital glaucoma. 57
6650499 1983
28
Heterogeneity in nonsyndromal congenital glaucoma. 57
7091200 1982
29
Congenital glaucoma in Gypsies from Slovakia. 57
7129458 1982
30
Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect. 57
7173861 1982
31
Segregation analysis of congenital glaucoma: approach by two differential models. 57
7211844 1981
32
Genetic heterogeneity of congenital glaucoma. 57
7371217 1980
33
Congenital glaucoma: genetic models. 57
437773 1979
34
Consanguinity in multifactorial inheritance. Application to data on congenital glaucoma. 57
680698 1978
35
RECESSIVE JUVENILE GLAUCOMA. 57
14076427 1963
36
Recessive buphthalmos in the rabbit. 57
13904370 1962
37
Bilateral congenital buphthalmos in two sisters. 57
13546568 1958
38
[Familial occurrence and hereditary aspects of presenile & senile glaucoma]. 57
24538476 1950
39
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom. 61
32830442 2020
40
Corneal hysteresis and glaucoma. 61
30187195 2019
41
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card. 61
30089822 2018
42
Genetic Testing in Pediatric Ophthalmology. 61
28971364 2018
43
A Triple Mutation of BetaB2-Crystallin is Necessary to Develop Cataract and Glaucoma. 61
29805843 2017
44
Evaluation of Ocular Side Effects in the Patients on Topiramate Therapy for Control of Migrainous Headache. 61
27134906 2016
45
Using genetic mouse models to gain insight into glaucoma: Past results and future possibilities. 61
26116903 2015
46
The association between macular thickness and peripapillary retinal nerve fiber layer thickness in Chinese children. 61
25715254 2015
47
Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum. 61
24508941 2014
48
Profile of pediatric glaucoma patients in Shanghai Eye, Ear, Nose and Throat Hospital. 61
24762583 2014
49
Pediatric glaucoma suspects. 61
24966666 2014
50
Clinical applications of high-resolution ocular magnetic resonance imaging. 61
22923185 2012

Variations for Glaucoma 3, Primary Congenital, a

ClinVar genetic disease variations for Glaucoma 3, Primary Congenital, a:

6 (show top 50) (show all 387)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP1B1 CYP1B1, 1-BP DEL, 4339G Deletion Pathogenic 7738
2 CYP1B1 NM_000104.3(CYP1B1):c.694G>C (p.Gly232Arg) SNV Pathogenic 7740 rs104893628 2:38301838-38301838 2:38074695-38074695
3 CYP1B1 CYP1B1, 1-BP DEL, 3979A Deletion Pathogenic 7742
4 CYP1B1 CYP1B1, 1-BP DEL, 3979A Deletion Pathogenic 7742
5 CYP1B1 NM_000104.3(CYP1B1):c.1267A>T (p.Asn423Tyr) SNV Pathogenic 7743 rs104893629 2:38298230-38298230 2:38071087-38071087
6 CYP1B1 NM_000104.3(CYP1B1):c.1267A>T (p.Asn423Tyr) SNV Pathogenic 7743 rs104893629 2:38298230-38298230 2:38071087-38071087
7 CYP1B1 NM_000104.3(CYP1B1):c.783C>A (p.Phe261Leu) SNV Pathogenic 30223 rs1558603396 2:38301749-38301749 2:38074606-38074606
8 CYP1B1 CYP1B1, 13-BP DEL, NT1410 Deletion Pathogenic 7728
9 CYP1B1 CYP1B1, 1-BP INS, 1209C Insertion Pathogenic 7729
10 CYP1B1 CYP1B1, 10-BP DUP, NT1546 Duplication Pathogenic 7731
11 CYP1B1 NM_000104.3(CYP1B1):c.1093G>T (p.Gly365Trp) SNV Pathogenic 7732 rs55771538 2:38298404-38298404 2:38071261-38071261
12 CYP1B1 NM_000104.3(CYP1B1):c.1302G>A (p.Trp434Ter) SNV Pathogenic 456638 rs893198212 2:38298195-38298195 2:38071052-38071052
13 CYP1B1 NM_000104.3(CYP1B1):c.1345del (p.Asp449fs) Deletion Pathogenic 456639 rs749073455 2:38298152-38298152 2:38071009-38071009
14 CYP1B1 NM_000104.3(CYP1B1):c.1536_1541del (p.Pro513_Lys514del) Deletion Pathogenic 813355 rs751768343 2:38297956-38297961 2:38070813-38070818
15 CYP1B1 NM_000104.4(CYP1B1):c.1044-3C>G SNV Pathogenic 973773 2:38298456-38298456 2:38071313-38071313
16 CYP1B1 NM_000104.4(CYP1B1):c.1460T>C (p.Leu487Pro) SNV Pathogenic 973774 2:38298037-38298037 2:38070894-38070894
17 CYP1B1 NM_000104.3(CYP1B1):c.-285C>T SNV Pathogenic 813357 rs1573277080 2:38303205-38303205 2:38076063-38076063
18 CYP1B1 NM_000104.3(CYP1B1):c.1405C>T (p.Arg469Trp) SNV Pathogenic 7733 rs28936701 2:38298092-38298092 2:38070949-38070949
19 CYP1B1 NM_000104.3(CYP1B1):c.155C>T (p.Pro52Leu) SNV Pathogenic 30224 rs201824781 2:38302377-38302377 2:38075234-38075234
20 CYP1B1 NM_000104.3(CYP1B1):c.1168C>T (p.Arg390Cys) SNV Pathogenic 335952 rs148542782 2:38298329-38298329 2:38071186-38071186
21 CYP1B1 NM_000104.3(CYP1B1):c.1063_1075del (p.Arg355fs) Deletion Pathogenic 417858 rs1064792896 2:38298422-38298434 2:38071279-38071291
22 LTBP2 NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter) SNV Pathogenic 7554 rs121918355 14:75022332-75022332 14:74555629-74555629
23 LTBP2 NM_000428.3(LTBP2):c.412del (p.Ala138fs) Deletion Pathogenic 7555 rs1566660365 14:75078236-75078236 14:74611533-74611533
24 LTBP2 NM_000428.3(LTBP2):c.1243_1256del (p.Glu415fs) Deletion Pathogenic 7556 rs1566635134 14:75019033-75019046 14:74552330-74552343
25 LTBP2 NM_000428.3(LTBP2):c.331C>T (p.Gln111Ter) SNV Pathogenic 7557 rs121918356 14:75078317-75078317 14:74611614-74611614
26 LTBP2 NM_000428.3(LTBP2):c.1417del (p.Leu473fs) Deletion Pathogenic 7559 rs1566634475 14:75018036-75018036 14:74551333-74551333
27 LTBP2 NM_000428.3(LTBP2):c.5376del (p.Cys1793fs) Deletion Pathogenic 126959 rs137854895 14:74967677-74967677 14:74500974-74500974
28 CYP1B1 NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) SNV Pathogenic 7730 rs28936700 2:38302350-38302350 2:38075207-38075207
29 CYP1B1 NM_000104.3(CYP1B1):c.1159G>A (p.Glu387Lys) SNV Pathogenic 7735 rs55989760 2:38298338-38298338 2:38071195-38071195
30 LTBP2 NM_000428.3(LTBP2):c.5376del (p.Cys1793fs) Deletion Pathogenic 126959 rs137854895 14:74967677-74967677 14:74500974-74500974
31 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) SNV Pathogenic 7737 rs72549387 2:38302361-38302361 2:38075218-38075218
32 CYP1B1 NM_000104.3(CYP1B1):c.535del (p.Ala179fs) Deletion Pathogenic 523943 rs771076928 2:38301997-38301997 2:38074854-38074854
33 CYP1B1 NM_000104.3(CYP1B1):c.830del (p.Phe276_Leu277insTer) Deletion Pathogenic 265390 rs766425037 2:38301702-38301702 2:38074559-38074559
34 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) SNV Pathogenic 7737 rs72549387 2:38302361-38302361 2:38075218-38075218
35 CYP1B1 NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) SNV Pathogenic 7730 rs28936700 2:38302350-38302350 2:38075207-38075207
36 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) SNV Pathogenic 7737 rs72549387 2:38302361-38302361 2:38075218-38075218
37 CYP1B1 NM_000104.3(CYP1B1):c.1331G>A (p.Arg444Gln) SNV Pathogenic 845455 2:38298166-38298166 2:38071023-38071023
38 CYP1B1 NM_000104.3(CYP1B1):c.1159G>A (p.Glu387Lys) SNV Pathogenic 7735 rs55989760 2:38298338-38298338 2:38071195-38071195
39 CYP1B1 NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) SNV Pathogenic 7730 rs28936700 2:38302350-38302350 2:38075207-38075207
40 CYP1B1 NM_000104.3(CYP1B1):c.535del (p.Ala179fs) Deletion Pathogenic 523943 rs771076928 2:38301997-38301997 2:38074854-38074854
41 CYP1B1 NM_000104.3(CYP1B1):c.1200_1209dup (p.Thr404fs) Duplication Pathogenic 68466 rs587778873 2:38298287-38298288 2:38071144-38071145
42 CYP1B1 NM_000104.3(CYP1B1):c.1064_1076del (p.Arg355fs) Deletion Pathogenic 282564 rs72549380 2:38298421-38298433 2:38071278-38071290
43 CYP1B1 NM_000104.3(CYP1B1):c.1064_1076del (p.Arg355fs) Deletion Pathogenic 282564 rs72549380 2:38298421-38298433 2:38071278-38071290
44 CYP1B1 NM_000104.3(CYP1B1):c.985G>A (p.Gly329Ser) SNV Likely pathogenic 632362 rs777678299 2:38301547-38301547 2:38074404-38074404
45 CYP1B1 NM_000104.3(CYP1B1):c.349C>T (p.Arg117Trp) SNV Likely pathogenic 813356 rs944452644 2:38302183-38302183 2:38075040-38075040
46 CYP1B1 NM_000104.3(CYP1B1):c.975_978del (p.Asp326fs) Deletion Likely pathogenic 800862 rs1573274915 2:38301554-38301557 2:38074411-38074414
47 CYP1B1 NM_000104.3(CYP1B1):c.1120G>A (p.Asp374Asn) SNV Conflicting interpretations of pathogenicity 7734 rs104893622 2:38298377-38298377 2:38071234-38071234
48 CYP1B1 NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) SNV Conflicting interpretations of pathogenicity 68467 rs57865060 2:38301847-38301847 2:38074704-38074704
49 CYP1B1 NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) SNV Conflicting interpretations of pathogenicity 7739 rs79204362 2:38298394-38298394 2:38071251-38071251
50 CYP1B1 NM_000104.4(CYP1B1):c.1043+6G>C SNV Uncertain significance 965574 2:38301483-38301483 2:38074340-38074340

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 3, Primary Congenital, a:

73 (show all 40)
# 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 rs104893622
4 CYP1B1 p.Arg469Trp VAR_001247 rs28936701
5 CYP1B1 p.Trp57Cys VAR_008350 rs72549387
6 CYP1B1 p.Glu387Lys VAR_008352 rs55989760
7 CYP1B1 p.Arg390His VAR_008353 rs56010818
8 CYP1B1 p.Pro437Leu VAR_008354 rs56175199
9 CYP1B1 p.Arg368His VAR_016034 rs79204362
10 CYP1B1 p.Tyr81Asn VAR_028736 rs9282671
11 CYP1B1 p.Ser28Trp VAR_054227 rs780002791
12 CYP1B1 p.Leu77Pro VAR_054229
13 CYP1B1 p.Ala115Pro VAR_054230 rs764338357
14 CYP1B1 p.Met132Arg VAR_054231
15 CYP1B1 p.Gln144Pro VAR_054233
16 CYP1B1 p.Gln144Arg VAR_054234 rs753847648
17 CYP1B1 p.Arg145Trp VAR_054235
18 CYP1B1 p.Asp192Val VAR_054238
19 CYP1B1 p.Pro193Leu VAR_054239 rs529769268
20 CYP1B1 p.Val198Ile VAR_054240 rs59472972
21 CYP1B1 p.Asn203Ser VAR_054241 rs142663614
22 CYP1B1 p.Ser215Ile VAR_054242 rs72549384
23 CYP1B1 p.Glu229Lys VAR_054243 rs57865060
24 CYP1B1 p.Gly232Arg VAR_054244 rs104893628
25 CYP1B1 p.Ser239Arg VAR_054245
26 CYP1B1 p.Leu345Phe VAR_054251 rs66583685
27 CYP1B1 p.Val364Met VAR_054253 rs72549379
28 CYP1B1 p.Ala388Thr VAR_054254
29 CYP1B1 p.Arg390Cys VAR_054255 rs148542782
30 CYP1B1 p.Arg390Ser VAR_054256 rs148542782
31 CYP1B1 p.Ile399Ser VAR_054257 rs72549378
32 CYP1B1 p.Val409Phe VAR_054258 rs957253424
33 CYP1B1 p.Asn423Tyr VAR_054260 rs104893629
34 CYP1B1 p.Arg444Gln VAR_054261 rs72549376
35 CYP1B1 p.Phe445Cys VAR_054262
36 CYP1B1 p.Gly466Asp VAR_054263 rs868208502
37 CYP1B1 p.Glu499Gly VAR_054264 rs72549372
38 CYP1B1 p.Arg523Thr VAR_054267
39 CYP1B1 p.Asp530Gly VAR_054268
40 MYOC p.Gln48His VAR_054272 rs74315339

Expression for Glaucoma 3, Primary Congenital, a

Search GEO for disease gene expression data for Glaucoma 3, Primary Congenital, a.

Pathways for Glaucoma 3, Primary Congenital, a

Pathways related to Glaucoma 3, Primary Congenital, a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.52 POMT2 POMT1 DAG1 B3GNT2
2
Show member pathways
11.34 SRD5A3 DPM3 DOLK
3 10.16 POMT2 POMT1 FKTN

GO Terms for Glaucoma 3, Primary Congenital, a

Cellular components related to Glaucoma 3, Primary Congenital, a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.63 SRD5A3 POMT2 POMT1 DPM3 DOLK CYP1B1
2 endoplasmic reticulum GO:0005783 9.23 SRD5A3 POMT2 POMT1 MYOC FKTN DPM3
3 node of Ranvier GO:0033268 8.96 MYOC DAG1

Biological processes related to Glaucoma 3, Primary Congenital, a according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 9.61 PITX2 PAX6 FOXC1
2 myelination in peripheral nervous system GO:0022011 9.49 MYOC DAG1
3 mannosylation GO:0097502 9.48 POMT2 POMT1
4 iris morphogenesis GO:0061072 9.46 PITX2 PAX6
5 protein O-linked glycosylation GO:0006493 9.43 POMT2 POMT1 FKTN
6 protein glycosylation GO:0006486 9.43 SRD5A3 POMT2 POMT1 FKTN DPM3 B3GNT2
7 positive regulation of core promoter binding GO:1904798 9.4 PAX6 FOXC1
8 lacrimal gland development GO:0032808 9.37 PAX6 FOXC1
9 dolichyl diphosphate biosynthetic process GO:0006489 9.32 SRD5A3 DOLK
10 positive regulation of protein O-linked glycosylation GO:1904100 9.16 POMT2 POMT1
11 protein O-linked mannosylation GO:0035269 8.92 POMT2 POMT1 FKTN DPM3

Molecular functions related to Glaucoma 3, Primary Congenital, a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mannosyltransferase activity GO:0000030 9.16 POMT2 POMT1
2 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.96 POMT2 POMT1
3 growth factor binding GO:0019838 8.8 TEK LTBP3 LTBP2

Sources for Glaucoma 3, Primary Congenital, a

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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