MCID: GLC083
MIFTS: 38

Glaucoma 3, Primary Infantile, B

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 57 29 13 73
Primary Congenital Glaucoma 53 73
Glc3b 57 53
Glaucoma, Primary Congenital, Type B 57
Glaucoma, Primary Infantile Type 3b 76
Primary Congenital Glaucoma Type 3b 53
Glaucoma Primary Congenita Type 3b 53
Glaucoma 3 Primary Infantile B 53
Glc3, Type B 57
Glc3 Type B 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive.


HPO:

32
glaucoma 3, primary infantile, b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 600975
MedGen 42 C1832977
SNOMED-CT via HPO 69 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 LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2). Affiliated tissues include eye, testes and skin, and related phenotypes are primary congenital glaucoma and vision/eye

Wikipedia : 76 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

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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
primary congenital glaucoma.


Clinical features from OMIM:

600975

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

32
# Description HPO Frequency HPO Source Accession
1 primary congenital glaucoma 32 HP:0008007

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

46
# 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

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 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 29 CYP1B1 LTBP2 TEK

Anatomical Context for Glaucoma 3, Primary Infantile, B

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

41
Eye, Testes, Skin, Brain

Publications for Glaucoma 3, Primary Infantile, B

Articles related to Glaucoma 3, Primary Infantile, B:

(show top 50) (show all 279)
# 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
Refractive outcomes of cataract surgery in primary congenital glaucoma. ( 30382237 )
2018
9
Pretarsal skin height changes in children receiving topical prostaglandin analogue therapy for primary congenital glaucoma. ( 29792934 )
2018
10
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card. ( 30089822 )
2018
11
Clinical variability of CYP1B1 gene variants in Pakistani primary congenital glaucoma families. ( 30108387 )
2018
12
Correlation Between Trabeculodysgenesis Assessed by Ultrasound Biomicroscopy and Surgical Outcomes in Primary Congenital Glaucoma. ( 30142328 )
2018
13
Corneal Configurations and High-order Aberrations in Primary Congenital Glaucoma. ( 30180018 )
2018
14
Decompression retinopathy following nonpenetrating deep sclerectomy for primary congenital glaucoma. ( 30185152 )
2018
15
Corneal Biomechanical Properties and Thickness in Primary Congenital Glaucoma and Normal Eyes: A Comparative Study. ( 30250855 )
2018
16
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
17
Use of ab interno Kahook Dual Blade trabeculectomy for treatment of primary congenital glaucoma. ( 30318913 )
2018
18
Microcatheter-assisted Trabeculotomy for Primary Congenital Glaucoma after Failed Glaucoma Surgeries. ( 30358646 )
2018
19
Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma. ( 30479704 )
2018
20
CYP1B1 Gene and Phenotypic Correlation in Patients from Northeastern Brazil with Primary Congenital Glaucoma. ( 30520782 )
2018
21
Analysis of<i>CYP1B1</i>Gene Mutations in Patients with Primary Congenital Glaucoma. ( 29142762 )
2017
22
In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma. ( 28386709 )
2017
23
Outcomes of microcatheter-assisted trabeculotomy following failed angle surgeries in primary congenital glaucoma. ( 27740616 )
2017
24
Long-term visual outcomes in children with primary congenital glaucoma. ( 28430330 )
2017
25
The morphogen behind primary congenital glaucoma and the dream of targeting. ( 28730218 )
2017
26
Evaluation of preoperative speed of progression and its association with surgical outcomes in primary congenital glaucoma patients: a retrospective study. ( 28923045 )
2017
27
Regular Versus Releasable Sutures in Surgery for Primary Congenital Glaucoma. ( 28617521 )
2017
28
Ciliary body location in eyes with and without primary congenital glaucoma. ( 29217026 )
2017
29
Fellow Eye in Unilateral Primary Congenital Glaucoma. ( 28138215 )
2017
30
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN PRIMARY CONGENITAL GLAUCOMA. ( 29155694 )
2017
31
Corneal profile in primary congenital glaucoma. ( 28139064 )
2017
32
Circumferential Trabeculotomy Versus Conventional Angle Surgery: Comparing Long-term Surgical Success and Clinical Outcomes in Children with Primary Congenital Glaucoma. ( 28860043 )
2017
33
Retrospective observation on trabeculectomy of primary congenital glaucoma by applying biological amniotic membranes soaked with 5-fluorouracil. ( 28905161 )
2017
34
Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma. ( 28384041 )
2017
35
Agreement in central corneal thickness measurements between optical and ultrasound pachymeters in patients with primary congenital glaucoma. ( 28574493 )
2017
36
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma. ( 28620713 )
2017
37
A Comparative Study: The Use of Collagen Implant versus Mitomycin-C in Combined Trabeculotomy and Trabeculectomy for Treatment of Primary Congenital Glaucoma. ( 28573046 )
2017
38
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. ( 28448622 )
2017
39
Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program. ( 29234227 )
2017
40
Pathogenesis and surgical resolution of acute hydrops in primary congenital glaucoma. ( 29160611 )
2017
41
Viscocanalostomy combined with trabeculotomy and mitomycin C in the treatment of primary congenital glaucoma. ( 28730083 )
2017
42
Fiberoptic Microcatheter-assisted 360-Degree Trabeculotomy Ab Externo After Unsuccessful Trabeculotome Trabeculotomy in Primary Congenital Glaucoma: A Case Report. ( 27367133 )
2016
43
Corneal Haze as Prognostic Indicator of Intraocular Pressure in Primary Congenital Glaucoma. ( 27367136 )
2016
44
Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma. ( 27293371 )
2016
45
Observations regarding gender and response to initial angle surgery in CYP1B1-related primary congenital glaucoma. ( 27438756 )
2016
46
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients. ( 27268095 )
2016
47
Structural and biomechanical corneal differences between patients suffering from primary congenital glaucoma and healthy volunteers. ( 27573413 )
2016
48
A case of spontaneously resolved primary congenital glaucoma. ( 27050360 )
2016
49
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark. ( 27820421 )
2016
50
Primary Congenital Glaucoma versus Glaucoma Following Congenital Cataract Surgery: Comparative Clinical Features and Long-term Outcomes. ( 27544478 )
2016

Variations for Glaucoma 3, Primary Infantile, B

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 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
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