GLC3B
MCID: GLC083
MIFTS: 40

Glaucoma 3, Primary Infantile, B (GLC3B)

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

Aliases & Classifications for Glaucoma 3, Primary Infantile, B

MalaCards integrated aliases for Glaucoma 3, Primary Infantile, B:

Name: Glaucoma 3, Primary Infantile, B 58 30 13 6 74
Primary Congenital Glaucoma 54 74
Glc3b 58 54
Glaucoma, Primary Congenital, Type B 58
Glaucoma, Primary Infantile Type 3b 77
Primary Congenital Glaucoma Type 3b 54
Glaucoma Primary Congenita Type 3b 54
Glaucoma 3 Primary Infantile B 54
Glc3, Type B 58
Glc3 Type B 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive.


HPO:

33
glaucoma 3, primary infantile, b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 600975
MedGen 43 C1832977
SNOMED-CT via HPO 70 258211005 415176004

Summaries for Glaucoma 3, Primary Infantile, B

MalaCards based summary : Glaucoma 3, Primary Infantile, B, also known as primary congenital glaucoma, is related to open-angle glaucoma and primary congenital glaucoma. An important gene associated with Glaucoma 3, Primary Infantile, B 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, testes and skin, and related phenotypes are primary congenital glaucoma and vision/eye

Wikipedia : 77 Primary juvenile glaucoma is glaucoma that develops due to ocular hypertension and is evident either at... more...

Description from OMIM: 600975

Related Diseases for Glaucoma 3, Primary Infantile, B

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 Infantile, B via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 open-angle glaucoma 29.9 CYP1B1 LTBP2
2 primary congenital glaucoma 29.3 CYP1B1 LTBP2 TEK
3 glaucoma 3, primary congenital, a 29.2 CYP1B1 LTBP2 TEK
4 corneal edema 28.8 CYP1B1 LTBP2 TEK
5 glaucoma 3, primary congenital, d 11.9
6 glaucoma 1, open angle, a 11.4
7 glaucoma 3, primary congenital, e 11.4
8 cone-rod dystrophy and hearing loss 2 11.1
9 cataract 10.1
10 glaucoma, primary open angle 10.0
11 glaucoma 3, primary congenital, c 9.9
12 hydrophthalmos 9.8 CYP1B1 LTBP2
13 anisocoria 9.8
14 neurofibromatosis, type iv, of riccardi 9.8
15 retinal detachment 9.8
16 teeth present at birth 9.8
17 down syndrome 9.8
18 megalocornea 9.8
19 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 9.8
20 peters-plus syndrome 9.8
21 anterior segment dysgenesis 3 9.8
22 isolated ectopia lentis 9.8
23 lens subluxation 9.8
24 patau syndrome 9.8
25 myopia 9.8
26 anisometropia 9.8
27 corneal dystrophy 9.8
28 chromosomal triplication 9.8
29 excessive tearing 9.8 CYP1B1 LTBP2
30 breast disease 9.4 CYP1B1 TEK

Graphical network of the top 20 diseases related to Glaucoma 3, Primary Infantile, B:



Diseases related to Glaucoma 3, Primary Infantile, B

Symptoms & Phenotypes for Glaucoma 3, Primary Infantile, B

Human phenotypes related to Glaucoma 3, Primary Infantile, B:

33
# Description HPO Frequency HPO Source Accession
1 primary congenital glaucoma 33 HP:0008007

Symptoms via clinical synopsis from OMIM:

58
Eyes:
primary congenital glaucoma.

Clinical features from OMIM:

600975

MGI Mouse Phenotypes related to Glaucoma 3, Primary Infantile, B:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 CYP1B1 LTBP2 TEK

Drugs & Therapeutics for Glaucoma 3, Primary Infantile, B

Drugs for Glaucoma 3, Primary Infantile, B (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 Antineoplastic Agents, Immunological Phase 4
4 Angiogenesis Modulating Agents Phase 4

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 Enrolling by invitation NCT00378742
10 Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Not yet recruiting NCT03541551 Not Applicable

Search NIH Clinical Center for Glaucoma 3, Primary Infantile, B

Genetic Tests for Glaucoma 3, Primary Infantile, B

Genetic tests related to Glaucoma 3, Primary Infantile, B:

# Genetic test Affiliating Genes
1 Glaucoma 3, Primary Infantile, B 30 CYP1B1 LTBP2 TEK

Anatomical Context for Glaucoma 3, Primary Infantile, B

MalaCards organs/tissues related to Glaucoma 3, Primary Infantile, B:

42
Eye, Testes, Skin, Brain, Breast

Publications for Glaucoma 3, Primary Infantile, B

Articles related to Glaucoma 3, Primary Infantile, B:

(show top 50) (show all 288)
# Title Authors Year
1
Cataract extraction in patients with primary congenital glaucoma. ( 30957520 )
2019
2
Refractive outcomes of cataract surgery in primary congenital glaucoma. ( 30382237 )
2019
3
Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients. ( 30662834 )
2019
4
Launching a paradigm for first and redo-surgery in primary congenital glaucoma: institutional experience. ( 30809477 )
2019
5
Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan. ( 30820150 )
2019
6
Factors influencing the outcome of goniotomy and trabeculotomy in primary congenital glaucoma. ( 30846492 )
2019
7
Reactivation of spontaneously resolved primary congenital glaucoma: A rare case report. ( 30851971 )
2019
8
Assessment of the anterior segment of patients with primary congenital glaucoma using handheld optical coherence tomography. ( 30886322 )
2019
9
Retinal nerve fiber layer thickness in children with primary congenital glaucoma measured by spectral domain optical coherence tomography. ( 30951827 )
2019
10
Caregiver Burden in Primary Congenital Glaucoma. ( 31082348 )
2019
11
Microcatheter-assisted Trabeculotomy for Primary Congenital Glaucoma After Failed Glaucoma Surgeries. ( 30358646 )
2019
12
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma. ( 30653210 )
2019
13
In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma. ( 28386709 )
2018
14
Retrospective observation on trabeculectomy of primary congenital glaucoma by applying biological amniotic membranes soaked with 5-fluorouracil. ( 28905161 )
2018
15
Long-term outcome of combined trabeculotomy-trabeculectomy by a single surgeon in patients with primary congenital glaucoma. ( 28983095 )
2018
16
Pathogenesis and surgical resolution of acute hydrops in primary congenital glaucoma. ( 29160611 )
2018
17
Mitomycin C in Filtering Surgery for Primary Congenital Glaucoma: A Comparison of Exposure Durations. ( 29384564 )
2018
18
Microcatheter-assisted Trabeculotomy Versus 2-site Trabeculotomy With the Rigid Probe Trabeculotome in Primary Congenital Glaucoma. ( 29394197 )
2018
19
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
20
Mutational spectrum of the CYP1B1 gene in Iranain primary congenital glaucoma family. ( 29784182 )
2018
21
Pretarsal skin height changes in children receiving topical prostaglandin analogue therapy for primary congenital glaucoma. ( 29792934 )
2018
22
Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients. ( 29903728 )
2018
23
Rare Case Of Primary Congenital Glaucoma With Hypoplasia Corpus Callosum. ( 29938437 )
2018
24
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card. ( 30089822 )
2018
25
Clinical variability of CYP1B1 gene variants in Pakistani primary congenital glaucoma families. ( 30108387 )
2018
26
Correlation Between Trabeculodysgenesis Assessed by Ultrasound Biomicroscopy and Surgical Outcomes in Primary Congenital Glaucoma. ( 30142328 )
2018
27
Corneal Configurations and High-order Aberrations in Primary Congenital Glaucoma. ( 30180018 )
2018
28
Decompression retinopathy following nonpenetrating deep sclerectomy for primary congenital glaucoma. ( 30185152 )
2018
29
Corneal Biomechanical Properties and Thickness in Primary Congenital Glaucoma and Normal Eyes: A Comparative Study. ( 30250855 )
2018
30
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
31
Use of ab interno Kahook Dual Blade trabeculectomy for treatment of primary congenital glaucoma. ( 30318913 )
2018
32
Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma. ( 30479704 )
2018
33
CYP1B1 Gene and Phenotypic Correlation in Patients from Northeastern Brazil with Primary Congenital Glaucoma. ( 30520782 )
2018
34
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients. ( 27268095 )
2017
35
Observations regarding gender and response to initial angle surgery in CYP1B1-related primary congenital glaucoma. ( 27438756 )
2017
36
Structural and biomechanical corneal differences between patients suffering from primary congenital glaucoma and healthy volunteers. ( 27573413 )
2017
37
Outcomes of microcatheter-assisted trabeculotomy following failed angle surgeries in primary congenital glaucoma. ( 27740616 )
2017
38
Fellow Eye in Unilateral Primary Congenital Glaucoma. ( 28138215 )
2017
39
Corneal profile in primary congenital glaucoma. ( 28139064 )
2017
40
Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma. ( 28384041 )
2017
41
Long-Term Visual Outcomes in Children with Primary Congenital Glaucoma. ( 28430330 )
2017
42
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. ( 28448622 )
2017
43
A Comparative Study: The Use of Collagen Implant versus Mitomycin-C in Combined Trabeculotomy and Trabeculectomy for Treatment of Primary Congenital Glaucoma. ( 28573046 )
2017
44
Agreement in central corneal thickness measurements between optical and ultrasound pachymeters in patients with primary congenital glaucoma. ( 28574493 )
2017
45
Regular Versus Releasable Sutures in Surgery for Primary Congenital Glaucoma. ( 28617521 )
2017
46
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma. ( 28620713 )
2017
47
Viscocanalostomy combined with trabeculotomy and mitomycin C in the treatment of primary congenital glaucoma. ( 28730083 )
2017
48
The morphogen behind primary congenital glaucoma and the dream of targeting. ( 28730218 )
2017
49
Circumferential Trabeculotomy Versus Conventional Angle Surgery: Comparing Long-term Surgical Success and Clinical Outcomes in Children With Primary Congenital Glaucoma. ( 28860043 )
2017
50
Evaluation of preoperative speed of progression and its association with surgical outcomes in primary congenital glaucoma patients: a retrospective study. ( 28923045 )
2017

Variations for Glaucoma 3, Primary Infantile, B

ClinVar genetic disease variations for Glaucoma 3, Primary Infantile, B:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP1B1 NM_000104.3(CYP1B1): c.182G> A (p.Gly61Glu) single nucleotide variant Pathogenic rs28936700 GRCh37 Chromosome 2, 38302350: 38302350
2 CYP1B1 NM_000104.3(CYP1B1): c.182G> A (p.Gly61Glu) single nucleotide variant Pathogenic rs28936700 GRCh38 Chromosome 2, 38075207: 38075207
3 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh37 Chromosome 2, 38302361: 38302361
4 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh38 Chromosome 2, 38075218: 38075218

Expression for Glaucoma 3, Primary Infantile, B

Search GEO for disease gene expression data for Glaucoma 3, Primary Infantile, B.

Pathways for Glaucoma 3, Primary Infantile, B

GO Terms for Glaucoma 3, Primary Infantile, B

Biological processes related to Glaucoma 3, Primary Infantile, B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 8.96 CYP1B1 TEK
2 positive regulation of angiogenesis GO:0045766 8.62 CYP1B1 TEK

Molecular functions related to Glaucoma 3, Primary Infantile, B according to GeneCards Suite gene sharing:

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

Sources for Glaucoma 3, Primary Infantile, B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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