Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: PRM032
MIFTS: 36

Primary Congenital Glaucoma

Categories: Eye diseases, Genetic diseases, Rare diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Primary Congenital Glaucoma

About this section

MalaCards integrated aliases for Primary Congenital Glaucoma:

Name: Primary Congenital Glaucoma 12 24 37 6 15 73

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0050593
KEGG 37 H01203
UMLS 73 C1533041
Sources

Summaries for Primary Congenital Glaucoma

About this section
MalaCards based summary : Primary Congenital Glaucoma is related to glaucoma 3, primary infantile, b and glaucoma 1, open angle, a. An important gene associated with Primary Congenital Glaucoma is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1), and among its related pathways/superpathways are Steroid hormone biosynthesis and Tryptophan metabolism. The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and brain, and related phenotype is vision/eye.

GeneReviews: NBK1135
Sources

Related Diseases for Primary Congenital Glaucoma

About this section

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary infantile, b 32.8 CYP1B1 LTBP2 TEK
2 glaucoma 1, open angle, a 31.3 CYP1B1 MYOC OPTN
3 glaucoma 3, primary congenital, a 30.0 CYP1B1 FOXC1 LTBP2 MYOC OPTN PITX2
4 megalocornea 29.8 LTBP2 OPTN
5 open-angle glaucoma 28.7 CYP1B1 LTBP2 MYOC OPTN WDR36
6 peters-plus syndrome 28.3 ADAMTS10 CYP1B1 FOXC1 PITX2
7 corneal edema 28.2 CYP1B1 LTBP2 MYOC OPTN TEK
8 glaucoma, primary open angle 28.0 ADAMTS10 CYP1B1 MYOC OPTN WDR36
9 glaucoma 3, primary congenital, d 11.6
10 glaucoma 3, primary congenital, e 10.9
11 acrofrontofacionasal dysostosis 10.3 CYP1B1 OPTN
12 weill-marchesani syndrome 1 10.3 ADAMTS10 LTBP2
13 glaucoma-related pigment dispersion syndrome 10.1 CYP1B1 PITX2
14 ritscher-schinzel syndrome 10.1 FOXC1 OPTN
15 axenfeld-rieger syndrome, type 3 10.1 FOXC1 PITX2
16 phacogenic glaucoma 10.1 LTBP2 OPTN
17 anterior segment dysgenesis 4 10.0 FOXC1 PITX2
18 cornea plana 10.0 FOXC1 PITX2
19 weill-marchesani syndrome 9.9 ADAMTS10 LTBP2
20 intestinal atresia 9.9 FOXC1 PITX2
21 primary angle-closure glaucoma 9.9 CYP1B1 MYOC OPTN
22 retinitis 9.9
23 persistent hyperplastic primary vitreous 9.8 FOXC1 PITX2
24 early-onset glaucoma 9.8 CYP1B1 MYOC PITX2
25 cataract 9.8
26 ocular hypertension 9.8 MYOC OPTN
27 low tension glaucoma 9.8 MYOC OPTN WDR36
28 anterior segment dysgenesis 9.8 CYP1B1 FOXC1 PITX2
29 anisocoria 9.7
30 retinal detachment 9.7
31 teeth present at birth 9.7
32 down syndrome 9.7
33 aging 9.7
34 anterior segment dysgenesis 3 9.7
35 isolated ectopia lentis 9.7
36 lens subluxation 9.7
37 patau syndrome 9.7
38 myopia 9.7
39 peripheral retinal degeneration 9.7
40 anisometropia 9.7
41 corneal dystrophy 9.7
42 retinal degeneration 9.7
43 excessive tearing 9.6 CYP1B1 LTBP2 MYOC OPTN
44 optic nerve disease 9.6 MYOC OPTN
45 axenfeld-rieger syndrome, type 2 9.5 FOXC1 OPTN PITX2
46 iris disease 9.5 FOXC1 OPTN PITX2
47 axenfeld-rieger syndrome 9.2 CYP1B1 FOXC1 OPTN PITX2
48 aniridia 1 9.2 CYP1B1 FOXC1 OPTN PITX2
49 hydrophthalmos 8.9 CYP1B1 FOXC1 LTBP2 OPTN PITX2
50 intraocular pressure quantitative trait locus 8.3 CYP1B1 FOXC1 MYOC OPTN PITX2 WDR36

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



Diseases related to Primary Congenital Glaucoma
Sources

Symptoms & Phenotypes for Primary Congenital Glaucoma

About this section

MGI Mouse Phenotypes related to Primary Congenital Glaucoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CYP1B1 FOXC1 LTBP2 MYOC PITX2 TEK
Sources

Drugs & Therapeutics for Primary Congenital Glaucoma

About this section

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4 216974-75-3
2 Angiogenesis Inhibitors Phase 4
3 Angiogenesis Modulating Agents Phase 4
4
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Bevacizumab in Trabeculectomy Surgery Completed NCT01166594 Phase 4 Bevacizumab;Control
2 Combined Trab+Trab Versus Combined Trab+Trab With Subconjunctival Implantation of Ologen for Primary Congenital Glaucoma Unknown status NCT02121171 Phase 1
3 Comparison Between Deep Sclerectomy and Traditional Trabeculotomy & Trabeculectomy in Congenital Glaucoma Unknown status NCT01460017 Phase 1
4 The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
5 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Completed NCT02945176 Not Applicable
6 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460
7 Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France Recruiting NCT03077789 Not Applicable
8 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Recruiting NCT03016156 Not Applicable
9 Repository for Inherited Eye Diseases Active, not recruiting NCT00378742
10 Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Not yet recruiting NCT03541551 Not Applicable

Search NIH Clinical Center for Primary Congenital Glaucoma

Sources

Genetic Tests for Primary Congenital Glaucoma

About this section
Sources

Anatomical Context for Primary Congenital Glaucoma

About this section

MalaCards organs/tissues related to Primary Congenital Glaucoma:

41
Eye, Testes, Brain, Skin
Sources

Publications for Primary Congenital Glaucoma

About this section

Articles related to Primary Congenital Glaucoma:

(show top 50) (show all 265)
# Title Authors Year
1
Microcatheter-assisted Trabeculotomy versus Two-site Trabeculotomy with the Rigid Probe Trabeculotome in Primary Congenital Glaucoma. ( 29394197 )
2018
2
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
3
Bioinformatics analysis of <i>CYP1B1</i> mutation hotspots in Chinese primary congenital glaucoma patients. ( 29903728 )
2018
4
Mutational spectrum of the CYP1B1 gene in Iranain primary congenital glaucoma family. ( 29784182 )
2018
5
Mitomycin C in Filtering Surgery for Primary Congenital Glaucoma: A Comparison of Exposure Durations. ( 29384564 )
2018
6
Rare Case Of Primary Congenital Glaucoma With Hypoplasia Corpus Callosum. ( 29938437 )
2018
7
Long-term outcome of combined trabeculotomy-trabeculectomy by a single surgeon in patients with primary congenital glaucoma. ( 28983095 )
2018
8
Pretarsal skin height changes in children receiving topical prostaglandin analogue therapy for primary congenital glaucoma. ( 29792934 )
2018
9
Analysis of<i>CYP1B1</i>Gene Mutations in Patients with Primary Congenital Glaucoma. ( 29142762 )
2017
10
In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma. ( 28386709 )
2017
11
Outcomes of microcatheter-assisted trabeculotomy following failed angle surgeries in primary congenital glaucoma. ( 27740616 )
2017
12
Long-term visual outcomes in children with primary congenital glaucoma. ( 28430330 )
2017
13
The morphogen behind primary congenital glaucoma and the dream of targeting. ( 28730218 )
2017
14
Evaluation of preoperative speed of progression and its association with surgical outcomes in primary congenital glaucoma patients: a retrospective study. ( 28923045 )
2017
15
Regular Versus Releasable Sutures in Surgery for Primary Congenital Glaucoma. ( 28617521 )
2017
16
Ciliary body location in eyes with and without primary congenital glaucoma. ( 29217026 )
2017
17
Fellow Eye in Unilateral Primary Congenital Glaucoma. ( 28138215 )
2017
18
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN PRIMARY CONGENITAL GLAUCOMA. ( 29155694 )
2017
19
Corneal profile in primary congenital glaucoma. ( 28139064 )
2017
20
Circumferential Trabeculotomy Versus Conventional Angle Surgery: Comparing Long-term Surgical Success and Clinical Outcomes in Children with Primary Congenital Glaucoma. ( 28860043 )
2017
21
Retrospective observation on trabeculectomy of primary congenital glaucoma by applying biological amniotic membranes soaked with 5-fluorouracil. ( 28905161 )
2017
22
Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma. ( 28384041 )
2017
23
Agreement in central corneal thickness measurements between optical and ultrasound pachymeters in patients with primary congenital glaucoma. ( 28574493 )
2017
24
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma. ( 28620713 )
2017
25
A Comparative Study: The Use of Collagen Implant versus Mitomycin-C in Combined Trabeculotomy and Trabeculectomy for Treatment of Primary Congenital Glaucoma. ( 28573046 )
2017
26
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. ( 28448622 )
2017
27
Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program. ( 29234227 )
2017
28
Pathogenesis and surgical resolution of acute hydrops in primary congenital glaucoma. ( 29160611 )
2017
29
Viscocanalostomy combined with trabeculotomy and mitomycin C in the treatment of primary congenital glaucoma. ( 28730083 )
2017
30
Fiberoptic Microcatheter-assisted 360-Degree Trabeculotomy Ab Externo After Unsuccessful Trabeculotome Trabeculotomy in Primary Congenital Glaucoma: A Case Report. ( 27367133 )
2016
31
Corneal Haze as Prognostic Indicator of Intraocular Pressure in Primary Congenital Glaucoma. ( 27367136 )
2016
32
Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma. ( 27293371 )
2016
33
Observations regarding gender and response to initial angle surgery in CYP1B1-related primary congenital glaucoma. ( 27438756 )
2016
34
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients. ( 27268095 )
2016
35
Structural and biomechanical corneal differences between patients suffering from primary congenital glaucoma and healthy volunteers. ( 27573413 )
2016
36
A case of spontaneously resolved primary congenital glaucoma. ( 27050360 )
2016
37
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark. ( 27820421 )
2016
38
Primary Congenital Glaucoma versus Glaucoma Following Congenital Cataract Surgery: Comparative Clinical Features and Long-term Outcomes. ( 27544478 )
2016
39
Combined trabeculotomy-trabeculectomy versus Ahmed valve implantation for refractory primary congenital glaucoma in Egyptian patients: a long-term follow-up. ( 27053995 )
2016
40
Surgical Outcomes of Trabeculotomy in Newborns with Primary Congenital Glaucoma. ( 27625089 )
2016
41
Persistent Corneal Edema Associated With Subconjunctival 5-fluorouracil in an Infant With Primary Congenital Glaucoma. ( 27783089 )
2016
42
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. ( 27270174 )
2016
43
Surgical outcomes in children with primary congenital glaucoma: a 20-year experience. ( 27033964 )
2016
44
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent. ( 27508083 )
2016
45
Pathological and Immunohistochemical Alterations of the Cornea in Congenital Corneal Opacification Secondary to Primary Congenital Glaucoma and Peters Anomaly. ( 26684044 )
2016
46
CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients. ( 26550974 )
2015
47
Outcomes of Ahmed valve implant following a failed initial trabeculotomy and trabeculectomy in refractory primary congenital glaucoma. ( 25624676 )
2015
48
Characteristics of Children With Primary Congenital Glaucoma Receiving Trabeculotomy and Goniotomy. ( 26584751 )
2015
49
Cytochrome P450 1B1 and Primary Congenital Glaucoma. ( 26005555 )
2015
50
Results of Ahmed glaucoma valve implantation in primary congenital glaucoma. ( 26198016 )
2015
Sources

Variations for Primary Congenital Glaucoma

About this section

ClinVar genetic disease variations for Primary Congenital Glaucoma:

6
(show top 50) (show all 301)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP1B1 NM_000104.3(CYP1B1): c.1358A> G (p.Asn453Ser) single nucleotide variant Benign/Likely benign rs1800440 GRCh37 Chromosome 2, 38298139: 38298139
2 CYP1B1 NM_000104.3(CYP1B1): c.1358A> G (p.Asn453Ser) single nucleotide variant Benign/Likely benign rs1800440 GRCh38 Chromosome 2, 38070996: 38070996
3 CYP1B1 NM_000104.3(CYP1B1): c.1347T> C (p.Asp449=) single nucleotide variant Benign rs1056837 GRCh37 Chromosome 2, 38298150: 38298150
4 CYP1B1 NM_000104.3(CYP1B1): c.1347T> C (p.Asp449=) single nucleotide variant Benign rs1056837 GRCh38 Chromosome 2, 38071007: 38071007
5 CYP1B1 NM_000104.3(CYP1B1): c.729G> C (p.Val243=) single nucleotide variant Benign/Likely benign rs9341249 GRCh37 Chromosome 2, 38301803: 38301803
6 CYP1B1 NM_000104.3(CYP1B1): c.729G> C (p.Val243=) single nucleotide variant Benign/Likely benign rs9341249 GRCh38 Chromosome 2, 38074660: 38074660
7 CYP1B1 NM_000104.3(CYP1B1): c.564C> A (p.Gly188=) single nucleotide variant Benign/Likely benign rs9341247 GRCh37 Chromosome 2, 38301968: 38301968
8 CYP1B1 NM_000104.3(CYP1B1): c.564C> A (p.Gly188=) single nucleotide variant Benign/Likely benign rs9341247 GRCh38 Chromosome 2, 38074825: 38074825
9 CYP1B1 NM_000104.3(CYP1B1): c.-1-12C> T single nucleotide variant Benign/Likely benign rs2617266 GRCh37 Chromosome 2, 38302544: 38302544
10 CYP1B1 NM_000104.3(CYP1B1): c.-1-12C> T single nucleotide variant Benign/Likely benign rs2617266 GRCh38 Chromosome 2, 38075401: 38075401
11 LTBP2 NM_000428.2(LTBP2): c.2788+13C> T single nucleotide variant Likely benign rs78258030 GRCh38 Chromosome 14, 74521898: 74521898
12 LTBP2 NM_000428.2(LTBP2): c.2788+13C> T single nucleotide variant Likely benign rs78258030 GRCh37 Chromosome 14, 74988601: 74988601
13 LTBP2 NM_000428.2(LTBP2): c.2406T> C (p.Thr802=) single nucleotide variant Benign/Likely benign rs699374 GRCh38 Chromosome 14, 74526097: 74526097
14 LTBP2 NM_000428.2(LTBP2): c.2406T> C (p.Thr802=) single nucleotide variant Benign/Likely benign rs699374 GRCh37 Chromosome 14, 74992800: 74992800
15 LTBP2 NM_000428.2(LTBP2): c.1287G> A (p.Leu429=) single nucleotide variant Likely benign rs61738025 GRCh38 Chromosome 14, 74552299: 74552299
16 LTBP2 NM_000428.2(LTBP2): c.1287G> A (p.Leu429=) single nucleotide variant Likely benign rs61738025 GRCh37 Chromosome 14, 75019002: 75019002
17 LTBP2 NM_000428.2(LTBP2): c.956C> A (p.Pro319Gln) single nucleotide variant Likely benign rs2304707 GRCh37 Chromosome 14, 75022271: 75022271
18 LTBP2 NM_000428.2(LTBP2): c.956C> A (p.Pro319Gln) single nucleotide variant Likely benign rs2304707 GRCh38 Chromosome 14, 74555568: 74555568
19 CYP1B1 NM_000104.3(CYP1B1): c.*2207G> A single nucleotide variant Uncertain significance rs9341267 GRCh38 Chromosome 2, 38068515: 38068515
20 CYP1B1 NM_000104.3(CYP1B1): c.*2207G> A single nucleotide variant Uncertain significance rs9341267 GRCh37 Chromosome 2, 38295658: 38295658
21 CYP1B1 NM_000104.3(CYP1B1): c.*1938G> A single nucleotide variant Uncertain significance rs570132783 GRCh38 Chromosome 2, 38068784: 38068784
22 CYP1B1 NM_000104.3(CYP1B1): c.*1938G> A single nucleotide variant Uncertain significance rs570132783 GRCh37 Chromosome 2, 38295927: 38295927
23 CYP1B1 NM_000104.3(CYP1B1): c.*1781T> C single nucleotide variant Uncertain significance rs750990195 GRCh37 Chromosome 2, 38296084: 38296084
24 CYP1B1 NM_000104.3(CYP1B1): c.*1781T> C single nucleotide variant Uncertain significance rs750990195 GRCh38 Chromosome 2, 38068941: 38068941
25 CYP1B1 NM_000104.3(CYP1B1): c.*1730A> G single nucleotide variant Uncertain significance rs886055991 GRCh37 Chromosome 2, 38296135: 38296135
26 CYP1B1 NM_000104.3(CYP1B1): c.*1730A> G single nucleotide variant Uncertain significance rs886055991 GRCh38 Chromosome 2, 38068992: 38068992
27 CYP1B1 NM_000104.3(CYP1B1): c.*1141A> G single nucleotide variant Uncertain significance rs759611970 GRCh37 Chromosome 2, 38296724: 38296724
28 CYP1B1 NM_000104.3(CYP1B1): c.*1141A> G single nucleotide variant Uncertain significance rs759611970 GRCh38 Chromosome 2, 38069581: 38069581
29 CYP1B1 NM_000104.3(CYP1B1): c.*1062G> T single nucleotide variant Uncertain significance rs185371002 GRCh37 Chromosome 2, 38296803: 38296803
30 CYP1B1 NM_000104.3(CYP1B1): c.*1062G> T single nucleotide variant Uncertain significance rs185371002 GRCh38 Chromosome 2, 38069660: 38069660
31 CYP1B1 NM_000104.3(CYP1B1): c.*1005C> T single nucleotide variant Uncertain significance rs35978993 GRCh37 Chromosome 2, 38296860: 38296860
32 CYP1B1 NM_000104.3(CYP1B1): c.*1005C> T single nucleotide variant Uncertain significance rs35978993 GRCh38 Chromosome 2, 38069717: 38069717
33 CYP1B1 NM_000104.3(CYP1B1): c.*466G> A single nucleotide variant Uncertain significance rs9341260 GRCh38 Chromosome 2, 38070256: 38070256
34 CYP1B1 NM_000104.3(CYP1B1): c.*466G> A single nucleotide variant Uncertain significance rs9341260 GRCh37 Chromosome 2, 38297399: 38297399
35 CYP1B1 NM_000104.3(CYP1B1): c.918G> A (p.Gly306=) single nucleotide variant Uncertain significance rs748708268 GRCh38 Chromosome 2, 38074471: 38074471
36 CYP1B1 NM_000104.3(CYP1B1): c.918G> A (p.Gly306=) single nucleotide variant Uncertain significance rs748708268 GRCh37 Chromosome 2, 38301614: 38301614
37 CYP1B1 NM_000104.3(CYP1B1): c.-97dupC duplication Benign rs886056000 GRCh38 Chromosome 2, 38075875: 38075875
38 CYP1B1 NM_000104.3(CYP1B1): c.-197C> G single nucleotide variant Uncertain significance rs886056001 GRCh38 Chromosome 2, 38075975: 38075975
39 CYP1B1 NM_000104.3(CYP1B1): c.-197C> G single nucleotide variant Uncertain significance rs886056001 GRCh37 Chromosome 2, 38303117: 38303117
40 CYP1B1 NM_000104.3(CYP1B1): c.*3078G> A single nucleotide variant Uncertain significance rs886055986 GRCh38 Chromosome 2, 38067644: 38067644
41 CYP1B1 NM_000104.3(CYP1B1): c.*3078G> A single nucleotide variant Uncertain significance rs886055986 GRCh37 Chromosome 2, 38294787: 38294787
42 CYP1B1 NM_000104.3(CYP1B1): c.*2499T> C single nucleotide variant Uncertain significance rs886055988 GRCh38 Chromosome 2, 38068223: 38068223
43 CYP1B1 NM_000104.3(CYP1B1): c.*2499T> C single nucleotide variant Uncertain significance rs886055988 GRCh37 Chromosome 2, 38295366: 38295366
44 CYP1B1 NM_000104.3(CYP1B1): c.*2333G> A single nucleotide variant Uncertain significance rs35320531 GRCh38 Chromosome 2, 38068389: 38068389
45 CYP1B1 NM_000104.3(CYP1B1): c.*2333G> A single nucleotide variant Uncertain significance rs35320531 GRCh37 Chromosome 2, 38295532: 38295532
46 CYP1B1 NM_000104.3(CYP1B1): c.*1871C> T single nucleotide variant Likely benign rs9341266 GRCh37 Chromosome 2, 38295994: 38295994
47 CYP1B1 NM_000104.3(CYP1B1): c.*1871C> T single nucleotide variant Likely benign rs9341266 GRCh38 Chromosome 2, 38068851: 38068851
48 CYP1B1 NM_000104.3(CYP1B1): c.*1601C> T single nucleotide variant Uncertain significance rs886055992 GRCh37 Chromosome 2, 38296264: 38296264
49 CYP1B1 NM_000104.3(CYP1B1): c.*1601C> T single nucleotide variant Uncertain significance rs886055992 GRCh38 Chromosome 2, 38069121: 38069121
50 CYP1B1 NM_000104.3(CYP1B1): c.*1460A> G single nucleotide variant Uncertain significance rs137915099 GRCh37 Chromosome 2, 38296405: 38296405
Sources

Expression for Primary Congenital Glaucoma

About this section
Search GEO for disease gene expression data for Primary Congenital Glaucoma.
Sources

Pathways for Primary Congenital Glaucoma

About this section

Pathways related to Primary Congenital Glaucoma according to KEGG:

37
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140
2 Tryptophan metabolism hsa00380
3 Metabolism of xenobiotics by cytochrome P450 hsa00980

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

# Super pathways Score Top Affiliating Genes
1
Heart Development 1
10.29 FOXC1 PITX2
Sources

GO Terms for Primary Congenital Glaucoma

About this section

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.8 ADAMTS10 LTBP2 MYOC

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

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.5 FOXC1 PITX2 TEK
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.46 MYOC TEK
3 camera-type eye development GO:0043010 9.43 FOXC1 PITX2
4 angiogenesis GO:0001525 9.43 CYP1B1 FOXC1 TEK
5 odontogenesis of dentin-containing tooth GO:0042475 9.4 FOXC1 PITX2
6 collagen fibril organization GO:0030199 9.37 CYP1B1 FOXC1
7 positive regulation of DNA binding GO:0043388 9.16 FOXC1 PITX2
8 endochondral ossification GO:0001958 8.96 FOXC1 TEK
9 positive regulation of focal adhesion assembly GO:0051894 8.62 MYOC TEK

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

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.62 LTBP2 TEK
Sources

Sources for Primary Congenital Glaucoma

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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
Content
Loading form....