GLC3A
MCID: GLC097
MIFTS: 58

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 75 29 6 73
Glaucoma, Congenital 57 76 53 55 40
Buphthalmos 57 12 59 75 15
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 57 75 29 13
Congenital Glaucoma 59 75 6
Glaucoma, Primary Open Angle, Juvenile-Onset 75 6
Primary Congenital Glaucoma 59 73
Glc3a 57 75
Glc3 57 75
Glaucoma, Primary Open Angle, Adult-Onset 75
Glaucoma, Congenital, Primary, Type 3a 40
Primary Infantile Glaucoma Type 3a 75
Primary Congenital Glaucoma 3a 75
Glaucoma, Congenital; Glc3 57
Simple Buphthalmos 12
Hydrophthalmos 73
Buphthalmia 59
Buphthalmus 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

32
glaucoma 3, primary congenital, a:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 231300
Disease Ontology 12 DOID:11211
ICD9CM 35 743.21
SNOMED-CT 68 13832009
Orphanet 59 ORPHA98976
ICD10 via Orphanet 34 Q15.0
UMLS via Orphanet 74 C0020302
MeSH 44 D005901
ICD10 33 Q15.0

Summaries for Glaucoma 3, Primary Congenital, a

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)

MalaCards based summary : Glaucoma 3, Primary Congenital, a, also known as glaucoma, congenital, is related to glaucoma 1, open angle, a and acrofrontofacionasal dysostosis. 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 Mannose type O-glycan biosynthesis and Other types of O-glycan biosynthesis. Affiliated tissues include eye, testes and brain, and related phenotypes are glaucoma and retinal detachment

UniProtKB/Swiss-Prot : 75 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 : 76 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

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

(show top 50) (show all 177)
# Related Disease Score Top Affiliating Genes
1 glaucoma 1, open angle, a 31.8 CYP1B1 MYOC OPTN
2 acrofrontofacionasal dysostosis 31.7 CYP1B1 OPTN
3 aniridia 1 31.2 CYP1B1 FOXC1 OPTN PAX6 PITX2
4 glaucoma 3, primary infantile, b 30.9 CYP1B1 LTBP2 TEK
5 axenfeld-rieger syndrome 30.6 CYP1B1 FOXC1 OPTN PAX6 PITX2
6 early-onset glaucoma 30.3 CYP1B1 MYOC PITX2
7 open-angle glaucoma 30.3 CYP1B1 LTBP2 MYOC OPTN
8 glaucoma, primary open angle 30.1 CYP1B1 MYOC OPTN
9 persistent hyperplastic primary vitreous 29.9 FOXC1 PITX2
10 primary congenital glaucoma 29.8 CYP1B1 FOXC1 LTBP2 MYOC OPTN PITX2
11 low tension glaucoma 29.8 MYOC OPTN
12 panophthalmitis 29.7 FBXO7 OPTN
13 megalocornea 29.7 LTBP2 OPTN SH3PXD2B
14 peters-plus syndrome 29.7 CYP1B1 FOXC1 PAX6 PITX2
15 coloboma of macula 29.7 CYP1B1 OPTN PAX6
16 anterior segment dysgenesis 29.4 CYP1B1 FOXC1 PAX6 PITX2
17 corneal edema 29.3 CYP1B1 FBXO7 LTBP2 MYOC OPTN TEK
18 juvenile glaucoma 29.1 CYP1B1 FOXC1 MYOC OPTN PAX6 PITX2
19 hydrophthalmos 29.0 CYP1B1 FBXO7 FOXC1 LTBP2 OPTN PITX2
20 friedreich ataxia and congenital glaucoma 12.1
21 glaucoma 1, open angle, j 11.9
22 glaucoma 1, open angle, d 11.8
23 glaucoma 1, open angle, k 11.8
24 glaucoma 1, open angle, f 11.6
25 diabetes mellitus, neonatal, with congenital hypothyroidism 11.6
26 insulinomatosis and diabetes mellitus 11.1
27 aniridia and absent patella 11.0
28 sturge-weber syndrome 11.0
29 aniridia 2 11.0
30 glaucoma 3, primary congenital, e 11.0
31 glaucoma 3, primary congenital, d 11.0
32 corneal dystrophy and perceptive deafness 10.9
33 ritscher-schinzel syndrome 1 10.9
34 muscular dystrophy-dystroglycanopathy , type a, 3 10.9
35 otopalatodigital syndrome, type ii 10.9
36 lowry-maclean syndrome 10.9
37 corneal dystrophy, congenital stromal 10.9
38 anterior segment dysgenesis 5 10.2 CYP1B1 PAX6
39 isolated aniridia 10.2 FOXC1 PAX6
40 cataract 10.2
41 coloboma, ocular, autosomal dominant 10.2 CYP1B1 PAX6
42 glaucoma-related pigment dispersion syndrome 10.2 CYP1B1 PITX2
43 ritscher-schinzel syndrome 10.2 FOXC1 OPTN
44 congenital aphakia 10.1 OPTN PAX6
45 primary angle-closure glaucoma 10.1 CYP1B1 MYOC OPTN
46 anterior segment dysgenesis 4 10.1 FOXC1 PITX2
47 retinoblastoma 10.1
48 purulent endophthalmitis 10.0 FBXO7 OPTN
49 ablepharon-macrostomia syndrome 10.0 PAX6 POMT1
50 excessive tearing 10.0 CYP1B1 LTBP2 MYOC OPTN

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
buphthalmos
increased intraocular pressure
ocular globe large
late onset congenital glaucoma
early onset open-angle glaucoma


Clinical features from OMIM:

231300

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

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
2 retinal detachment 59 32 frequent (33%) Frequent (79-30%) HP:0000541
3 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
4 nevus flammeus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001052
5 buphthalmos 32 HP:0000557
6 increased intraocular pressure 32 HP:0007906
7 late onset congenital glaucoma 32 HP:0008041

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 FOXC1 LTBP2 PAX6 PITX2 POMT1 SH3PXD2B
2 mortality/aging MP:0010768 9.81 FOXC1 LTBP2 OPTN PAX6 PITX2 POMT1
3 embryo MP:0005380 9.73 FOXC1 PAX6 PITX2 POMT1 POMT2 TEK
4 muscle MP:0005369 9.43 FOXC1 PAX6 PITX2 POMT1 SH3PXD2B TEK
5 vision/eye MP:0005391 9.32 CRYGS CYP1B1 FOXC1 LTBP2 MYOC PAX6

Drugs & Therapeutics for Glaucoma 3, Primary Congenital, a

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721

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 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:

41
Eye, Testes, Brain, Skin, Kidney, Bone, Endothelial

Publications for Glaucoma 3, Primary Congenital, a

Articles related to Glaucoma 3, Primary Congenital, a:

(show top 50) (show all 386)
# Title Authors Year
1
Microcatheter-assisted Trabeculotomy versus Two-site Trabeculotomy with the Rigid Probe Trabeculotome in Primary Congenital Glaucoma. ( 29394197 )
2018
2
Trabeculectomy with Ologen implant versus mitomycin C in congenital glaucoma secondary to Sturge Weber Syndrome. ( 29487815 )
2018
3
Optic neuropathy and congenital glaucoma associated with probable Zika virus infection in Venezuelan patients. ( 29896405 )
2018
4
Generation of a human induced pluripotent stem cell line from urinary cells of a patient with primary congenital glaucoma using integration free Sendai technology. ( 29677590 )
2018
5
Unusual Association of Aniridia with Aicardi-GoutiA"res Syndrome-Related Congenital Glaucoma in a Tertiary Care Center. ( 29703882 )
2018
6
Bioinformatics analysis of <i>CYP1B1</i> mutation hotspots in Chinese primary congenital glaucoma patients. ( 29903728 )
2018
7
Mutational spectrum of the CYP1B1 gene in Iranain primary congenital glaucoma family. ( 29784182 )
2018
8
Mitomycin C in Filtering Surgery for Primary Congenital Glaucoma: A Comparison of Exposure Durations. ( 29384564 )
2018
9
Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma. ( 29088057 )
2018
10
Rare Case Of Primary Congenital Glaucoma With Hypoplasia Corpus Callosum. ( 29938437 )
2018
11
Long-term outcome of combined trabeculotomy-trabeculectomy by a single surgeon in patients with primary congenital glaucoma. ( 28983095 )
2018
12
Refractive outcomes of cataract surgery in primary congenital glaucoma. ( 30382237 )
2018
13
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. ( 30420927 )
2018
14
Corrigendum: Optic neuropathy and congenital glaucoma associated with probable Zika virus infection in Venezuelan patients. ( 30323937 )
2018
15
Pretarsal skin height changes in children receiving topical prostaglandin analogue therapy for primary congenital glaucoma. ( 29792934 )
2018
16
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card. ( 30089822 )
2018
17
Clinical variability of CYP1B1 gene variants in Pakistani primary congenital glaucoma families. ( 30108387 )
2018
18
Correlation Between Trabeculodysgenesis Assessed by Ultrasound Biomicroscopy and Surgical Outcomes in Primary Congenital Glaucoma. ( 30142328 )
2018
19
Corneal Configurations and High-order Aberrations in Primary Congenital Glaucoma. ( 30180018 )
2018
20
Decompression retinopathy following nonpenetrating deep sclerectomy for primary congenital glaucoma. ( 30185152 )
2018
21
Corneal Biomechanical Properties and Thickness in Primary Congenital Glaucoma and Normal Eyes: A Comparative Study. ( 30250855 )
2018
22
Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2. ( 30270463 )
2018
23
Use of ab interno Kahook Dual Blade trabeculectomy for treatment of primary congenital glaucoma. ( 30318913 )
2018
24
Microcatheter-assisted Trabeculotomy for Primary Congenital Glaucoma after Failed Glaucoma Surgeries. ( 30358646 )
2018
25
Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma. ( 30479704 )
2018
26
CYP1B1 Gene and Phenotypic Correlation in Patients from Northeastern Brazil with Primary Congenital Glaucoma. ( 30520782 )
2018
27
Clinical Presentation and Management Outcomes of Coexistent Congenital Glaucoma and Retinopathy of Prematurity. ( 30461550 )
2018
28
Proptosis masquerading as buphthalmos following glaucoma drainage device surgery in a child with congenital glaucoma. ( 30145194 )
2018
29
Analysis of<i>CYP1B1</i>Gene Mutations in Patients with Primary Congenital Glaucoma. ( 29142762 )
2017
30
In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma. ( 28386709 )
2017
31
Outcomes of microcatheter-assisted trabeculotomy following failed angle surgeries in primary congenital glaucoma. ( 27740616 )
2017
32
Long-term visual outcomes in children with primary congenital glaucoma. ( 28430330 )
2017
33
The morphogen behind primary congenital glaucoma and the dream of targeting. ( 28730218 )
2017
34
Evaluation of preoperative speed of progression and its association with surgical outcomes in primary congenital glaucoma patients: a retrospective study. ( 28923045 )
2017
35
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development. ( 28397860 )
2017
36
Regular Versus Releasable Sutures in Surgery for Primary Congenital Glaucoma. ( 28617521 )
2017
37
Ciliary body location in eyes with and without primary congenital glaucoma. ( 29217026 )
2017
38
Epiblepharon in congenital glaucoma: case-control study. ( 28351926 )
2017
39
Fellow Eye in Unilateral Primary Congenital Glaucoma. ( 28138215 )
2017
40
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN PRIMARY CONGENITAL GLAUCOMA. ( 29155694 )
2017
41
Corneal profile in primary congenital glaucoma. ( 28139064 )
2017
42
Circumferential Trabeculotomy Versus Conventional Angle Surgery: Comparing Long-term Surgical Success and Clinical Outcomes in Children with Primary Congenital Glaucoma. ( 28860043 )
2017
43
Retrospective observation on trabeculectomy of primary congenital glaucoma by applying biological amniotic membranes soaked with 5-fluorouracil. ( 28905161 )
2017
44
Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma. ( 28384041 )
2017
45
Agreement in central corneal thickness measurements between optical and ultrasound pachymeters in patients with primary congenital glaucoma. ( 28574493 )
2017
46
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma. ( 28620713 )
2017
47
A Comparative Study: The Use of Collagen Implant versus Mitomycin-C in Combined Trabeculotomy and Trabeculectomy for Treatment of Primary Congenital Glaucoma. ( 28573046 )
2017
48
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. ( 28448622 )
2017
49
Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program. ( 29234227 )
2017
50
Pathogenesis and surgical resolution of acute hydrops in primary congenital glaucoma. ( 29160611 )
2017

Variations for Glaucoma 3, Primary Congenital, a

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

75 (show all 41)
# 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
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.Val320Leu VAR_054247 rs72549382
27 CYP1B1 p.Leu345Phe VAR_054251 rs66583685
28 CYP1B1 p.Val364Met VAR_054253 rs72549379
29 CYP1B1 p.Ala388Thr VAR_054254
30 CYP1B1 p.Arg390Cys VAR_054255 rs148542782
31 CYP1B1 p.Arg390Ser VAR_054256 rs148542782
32 CYP1B1 p.Ile399Ser VAR_054257 rs72549378
33 CYP1B1 p.Val409Phe VAR_054258 rs957253424
34 CYP1B1 p.Asn423Tyr VAR_054260 rs104893629
35 CYP1B1 p.Arg444Gln VAR_054261 rs72549376
36 CYP1B1 p.Phe445Cys VAR_054262
37 CYP1B1 p.Gly466Asp VAR_054263 rs868208502
38 CYP1B1 p.Glu499Gly VAR_054264 rs72549372
39 CYP1B1 p.Arg523Thr VAR_054267
40 CYP1B1 p.Asp530Gly VAR_054268
41 MYOC p.Gln48His VAR_054272 rs74315339

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

6 (show top 50) (show all 62)
# 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 NM_000104.3(CYP1B1): c.182G> A (p.Gly61Glu) single nucleotide variant Pathogenic rs28936700 GRCh38 Chromosome 2, 38075207: 38075207
5 CYP1B1 CYP1B1, 10-BP DUP, NT1546 duplication Pathogenic
6 CYP1B1 NM_000104.3(CYP1B1): c.1093G> T (p.Gly365Trp) single nucleotide variant Pathogenic rs55771538 GRCh37 Chromosome 2, 38298404: 38298404
7 CYP1B1 NM_000104.3(CYP1B1): c.1093G> T (p.Gly365Trp) single nucleotide variant Pathogenic rs55771538 GRCh38 Chromosome 2, 38071261: 38071261
8 CYP1B1 NM_000104.3(CYP1B1): c.1405C> T (p.Arg469Trp) single nucleotide variant Pathogenic rs28936701 GRCh37 Chromosome 2, 38298092: 38298092
9 CYP1B1 NM_000104.3(CYP1B1): c.1405C> T (p.Arg469Trp) single nucleotide variant Pathogenic rs28936701 GRCh38 Chromosome 2, 38070949: 38070949
10 CYP1B1 NM_000104.3(CYP1B1): c.1120G> A (p.Asp374Asn) single nucleotide variant Pathogenic rs104893622 GRCh37 Chromosome 2, 38298377: 38298377
11 CYP1B1 NM_000104.3(CYP1B1): c.1120G> A (p.Asp374Asn) single nucleotide variant Pathogenic rs104893622 GRCh38 Chromosome 2, 38071234: 38071234
12 CYP1B1 NM_000104.3(CYP1B1): c.1159G> A (p.Glu387Lys) single nucleotide variant Pathogenic rs55989760 GRCh37 Chromosome 2, 38298338: 38298338
13 CYP1B1 NM_000104.3(CYP1B1): c.1159G> A (p.Glu387Lys) single nucleotide variant Pathogenic rs55989760 GRCh38 Chromosome 2, 38071195: 38071195
14 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh37 Chromosome 2, 38302361: 38302361
15 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh38 Chromosome 2, 38075218: 38075218
16 CYP1B1 CYP1B1, 1-BP DEL, 4339G deletion Pathogenic
17 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh37 Chromosome 2, 38298394: 38298394
18 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh38 Chromosome 2, 38071251: 38071251
19 CYP1B1 NM_000104.3(CYP1B1): c.694G> C (p.Gly232Arg) single nucleotide variant Pathogenic rs104893628 GRCh37 Chromosome 2, 38301838: 38301838
20 CYP1B1 NM_000104.3(CYP1B1): c.694G> C (p.Gly232Arg) single nucleotide variant Pathogenic rs104893628 GRCh38 Chromosome 2, 38074695: 38074695
21 CYP1B1 CYP1B1, 1-BP DEL, 3979A deletion Pathogenic
22 CYP1B1 NM_000104.3(CYP1B1): c.1267A> T (p.Asn423Tyr) single nucleotide variant Pathogenic rs104893629 GRCh37 Chromosome 2, 38298230: 38298230
23 CYP1B1 NM_000104.3(CYP1B1): c.1267A> T (p.Asn423Tyr) single nucleotide variant Pathogenic rs104893629 GRCh38 Chromosome 2, 38071087: 38071087
24 CYP1B1 CYP1B1, PHE261LEU single nucleotide variant Pathogenic
25 CYP1B1 NM_000104.3(CYP1B1): c.155C> T (p.Pro52Leu) single nucleotide variant Uncertain significance rs201824781 GRCh37 Chromosome 2, 38302377: 38302377
26 CYP1B1 NM_000104.3(CYP1B1): c.155C> T (p.Pro52Leu) single nucleotide variant Uncertain significance rs201824781 GRCh38 Chromosome 2, 38075234: 38075234
27 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh37 Chromosome 2, 38298288: 38298297
28 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh38 Chromosome 2, 38071145: 38071154
29 CYP1B1 NM_000104.3(CYP1B1): c.1409G> A (p.Cys470Tyr) single nucleotide variant not provided rs104894979 GRCh37 Chromosome 2, 38298088: 38298088
30 CYP1B1 NM_000104.3(CYP1B1): c.1409G> A (p.Cys470Tyr) single nucleotide variant not provided rs104894979 GRCh38 Chromosome 2, 38070945: 38070945
31 CYP1B1 NM_000104.3(CYP1B1): c.487C> T (p.Arg163Cys) single nucleotide variant not provided rs104894978 GRCh37 Chromosome 2, 38302045: 38302045
32 CYP1B1 NM_000104.3(CYP1B1): c.487C> T (p.Arg163Cys) single nucleotide variant not provided rs104894978 GRCh38 Chromosome 2, 38074902: 38074902
33 CYP1B1 NM_000104.3(CYP1B1): c.625_626delTG (p.Cys209Phefs) deletion not provided rs104894980 GRCh37 Chromosome 2, 38301906: 38301907
34 CYP1B1 NM_000104.3(CYP1B1): c.625_626delTG (p.Cys209Phefs) deletion not provided rs104894980 GRCh38 Chromosome 2, 38074763: 38074764
35 LTBP2 NM_000428.2(LTBP2): c.5376delC (p.Cys1793Alafs) deletion Pathogenic rs137854895 GRCh37 Chromosome 14, 74967677: 74967677
36 LTBP2 NM_000428.2(LTBP2): c.5376delC (p.Cys1793Alafs) deletion Pathogenic rs137854895 GRCh38 Chromosome 14, 74500974: 74500974
37 CYP1B1 NM_000104.3(CYP1B1): c.729G> C (p.Val243=) single nucleotide variant Benign/Likely benign rs9341249 GRCh37 Chromosome 2, 38301803: 38301803
38 CYP1B1 NM_000104.3(CYP1B1): c.729G> C (p.Val243=) single nucleotide variant Benign/Likely benign rs9341249 GRCh38 Chromosome 2, 38074660: 38074660
39 CYP1B1 NM_000104.3(CYP1B1): c.564C> A (p.Gly188=) single nucleotide variant Benign/Likely benign rs9341247 GRCh37 Chromosome 2, 38301968: 38301968
40 CYP1B1 NM_000104.3(CYP1B1): c.564C> A (p.Gly188=) single nucleotide variant Benign/Likely benign rs9341247 GRCh38 Chromosome 2, 38074825: 38074825
41 CYP1B1 NM_000104.3(CYP1B1): c.1290C> G (p.Asp430Glu) single nucleotide variant Uncertain significance rs201181935 GRCh37 Chromosome 2, 38298207: 38298207
42 CYP1B1 NM_000104.3(CYP1B1): c.1290C> G (p.Asp430Glu) single nucleotide variant Uncertain significance rs201181935 GRCh38 Chromosome 2, 38071064: 38071064
43 CYP1B1 NM_000104.3(CYP1B1): c.958G> T (p.Val320Leu) single nucleotide variant Uncertain significance rs72549382 GRCh37 Chromosome 2, 38301574: 38301574
44 CYP1B1 NM_000104.3(CYP1B1): c.958G> T (p.Val320Leu) single nucleotide variant Uncertain significance rs72549382 GRCh38 Chromosome 2, 38074431: 38074431
45 CYP1B1 NM_000104.3(CYP1B1): c.319C> G (p.Leu107Val) single nucleotide variant Uncertain significance rs56339482 GRCh37 Chromosome 2, 38302213: 38302213
46 CYP1B1 NM_000104.3(CYP1B1): c.319C> G (p.Leu107Val) single nucleotide variant Uncertain significance rs56339482 GRCh38 Chromosome 2, 38075070: 38075070
47 CYP1B1 NM_000104.3(CYP1B1): c.830delT (p.Leu277Terfs) deletion Pathogenic rs766425037 GRCh37 Chromosome 2, 38301702: 38301702
48 CYP1B1 NM_000104.3(CYP1B1): c.830delT (p.Leu277Terfs) deletion Pathogenic rs766425037 GRCh38 Chromosome 2, 38074559: 38074559
49 CYP1B1 NM_000104.3(CYP1B1): c.1064_1076delGAGTGCAGGCAGA (p.Arg355Hisfs) deletion Pathogenic rs72549380 GRCh37 Chromosome 2, 38298421: 38298433
50 CYP1B1 NM_000104.3(CYP1B1): c.1064_1076delGAGTGCAGGCAGA (p.Arg355Hisfs) deletion Pathogenic rs72549380 GRCh38 Chromosome 2, 38071278: 38071290

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 10.32 POMT1 POMT2
2 9.97 POMT1 POMT2

GO Terms for Glaucoma 3, Primary Congenital, a

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.7 FOXC1 SH3PXD2B TEK
2 angiogenesis GO:0001525 9.69 CYP1B1 FOXC1 TEK
3 protein O-linked glycosylation GO:0006493 9.49 POMT1 POMT2
4 lens development in camera-type eye GO:0002088 9.48 CRYGS PAX6
5 endochondral ossification GO:0001958 9.46 FOXC1 TEK
6 positive regulation of focal adhesion assembly GO:0051894 9.43 MYOC TEK
7 mannosylation GO:0097502 9.4 POMT1 POMT2
8 protein O-linked mannosylation GO:0035269 9.37 POMT1 POMT2
9 camera-type eye development GO:0043010 9.33 FOXC1 PAX6 PITX2
10 iris morphogenesis GO:0061072 9.32 PAX6 PITX2
11 lacrimal gland development GO:0032808 9.26 FOXC1 PAX6
12 positive regulation of protein O-linked glycosylation GO:1904100 8.96 POMT1 POMT2
13 eye development GO:0001654 8.8 FOXC1 PAX6 SH3PXD2B

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

# Name GO ID Score Top Affiliating Genes
1 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT1 POMT2

Sources for Glaucoma 3, Primary Congenital, a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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