MCID: GLC083
MIFTS: 33

Glaucoma 3, Primary Infantile, B

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

Aliases & Classifications for Glaucoma 3, Primary Infantile, B

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

Name: Glaucoma 3, Primary Infantile, B 53 28 13 69
Primary Congenital Glaucoma 49 69
Glc3b 53 49
Glaucoma, Primary Congenital, Type B 53
Glaucoma, Primary Infantile Type 3b 72
Primary Congenital Glaucoma Type 3b 49
Glaucoma Primary Congenita Type 3b 49
Glaucoma 3 Primary Infantile B 49
Glc3, Type B 53
Glc3 Type B 49

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive.


HPO:

31
glaucoma 3, primary infantile, b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 600975
MedGen 39 C1832977
SNOMED-CT via HPO 65 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 primary congenital glaucoma and glaucoma 3, primary congenital, a, and has symptoms including primary congenital glaucoma An important gene associated with Glaucoma 3, Primary Infantile, B is TEK (TEK Receptor Tyrosine Kinase). Related phenotype is vision/eye.

Wikipedia : 72 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:

53
Eyes:
primary congenital glaucoma.


Clinical features from OMIM:

600975

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

31
# Description HPO Frequency HPO Source Accession
1 primary congenital glaucoma 31 HP:0008007

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

43
# 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 28 CYP1B1 LTBP2 TEK

Anatomical Context for Glaucoma 3, Primary Infantile, B

Publications for Glaucoma 3, Primary Infantile, B

Articles related to Glaucoma 3, Primary Infantile, B:

(show top 50) (show all 259)
# Title Authors Year
1
Mitomycin C in Filtering Surgery for Primary Congenital Glaucoma: A Comparison of Exposure Durations. ( 29384564 )
2018
2
Long-term outcome of combined trabeculotomy-trabeculectomy by a single surgeon in patients with primary congenital glaucoma. ( 28983095 )
2018
3
Microcatheter-assisted Trabeculotomy versus Two-site Trabeculotomy with the Rigid Probe Trabeculotome in Primary Congenital Glaucoma. ( 29394197 )
2018
4
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN PRIMARY CONGENITAL GLAUCOMA. ( 29155694 )
2017
5
Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program. ( 29234227 )
2017
6
Circumferential Trabeculotomy Versus Conventional Angle Surgery: Comparing Long-term Surgical Success and Clinical Outcomes in Children with Primary Congenital Glaucoma. ( 28860043 )
2017
7
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma. ( 28620713 )
2017
8
Agreement in central corneal thickness measurements between optical and ultrasound pachymeters in patients with primary congenital glaucoma. ( 28574493 )
2017
9
A Comparative Study: The Use of Collagen Implant versus Mitomycin-C in Combined Trabeculotomy and Trabeculectomy for Treatment of Primary Congenital Glaucoma. ( 28573046 )
2017
10
Pathogenesis and surgical resolution of acute hydrops in primary congenital glaucoma. ( 29160611 )
2017
11
Corneal profile in primary congenital glaucoma. ( 28139064 )
2017
12
Retrospective observation on trabeculectomy of primary congenital glaucoma by applying biological amniotic membranes soaked with 5-fluorouracil. ( 28905161 )
2017
13
Ciliary body location in eyes with and without primary congenital glaucoma. ( 29217026 )
2017
14
Outcomes of microcatheter-assisted trabeculotomy following failed angle surgeries in primary congenital glaucoma. ( 27740616 )
2017
15
Evaluation of preoperative speed of progression and its association with surgical outcomes in primary congenital glaucoma patients: a retrospective study. ( 28923045 )
2017
16
Viscocanalostomy combined with trabeculotomy and mitomycin C in the treatment of primary congenital glaucoma. ( 28730083 )
2017
17
Long-term visual outcomes in children with primary congenital glaucoma. ( 28430330 )
2017
18
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. ( 28448622 )
2017
19
Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma. ( 28384041 )
2017
20
Regular Versus Releasable Sutures in Surgery for Primary Congenital Glaucoma. ( 28617521 )
2017
21
Analysis of<i>CYP1B1</i>Gene Mutations in Patients with Primary Congenital Glaucoma. ( 29142762 )
2017
22
The morphogen behind primary congenital glaucoma and the dream of targeting. ( 28730218 )
2017
23
In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma. ( 28386709 )
2017
24
Fellow Eye in Unilateral Primary Congenital Glaucoma. ( 28138215 )
2017
25
Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma. ( 27293371 )
2016
26
Structural and biomechanical corneal differences between patients suffering from primary congenital glaucoma and healthy volunteers. ( 27573413 )
2016
27
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark. ( 27820421 )
2016
28
Surgical Outcomes of Trabeculotomy in Newborns with Primary Congenital Glaucoma. ( 27625089 )
2016
29
Persistent Corneal Edema Associated With Subconjunctival 5-fluorouracil in an Infant With Primary Congenital Glaucoma. ( 27783089 )
2016
30
Observations regarding gender and response to initial angle surgery in CYP1B1-related primary congenital glaucoma. ( 27438756 )
2016
31
Combined trabeculotomy-trabeculectomy versus Ahmed valve implantation for refractory primary congenital glaucoma in Egyptian patients: a long-term follow-up. ( 27053995 )
2016
32
A case of spontaneously resolved primary congenital glaucoma. ( 27050360 )
2016
33
Pathological and Immunohistochemical Alterations of the Cornea in Congenital Corneal Opacification Secondary to Primary Congenital Glaucoma and Peters Anomaly. ( 26684044 )
2016
34
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent. ( 27508083 )
2016
35
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients. ( 27268095 )
2016
36
Primary Congenital Glaucoma versus Glaucoma Following Congenital Cataract Surgery: Comparative Clinical Features and Long-term Outcomes. ( 27544478 )
2016
37
Corneal Haze as Prognostic Indicator of Intraocular Pressure in Primary Congenital Glaucoma. ( 27367136 )
2016
38
Fiberoptic Microcatheter-assisted 360-Degree Trabeculotomy Ab Externo After Unsuccessful Trabeculotome Trabeculotomy in Primary Congenital Glaucoma: A Case Report. ( 27367133 )
2016
39
Surgical outcomes in children with primary congenital glaucoma: a 20-year experience. ( 27033964 )
2016
40
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. ( 27270174 )
2016
41
CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients. ( 26550974 )
2015
42
Visual field loss in primary congenital glaucoma. ( 25892039 )
2015
43
CYP1B1-mediated Pathobiology of Primary Congenital Glaucoma. ( 26997841 )
2015
44
Genotype-phenotype correlation in moroccan patients with primary congenital glaucoma. ( 25826643 )
2015
45
CYP1B1 gene mutations with incomplete penetrance in a Chinese pedigree with primary congenital glaucoma: a case report and review of literatures. ( 26550445 )
2015
46
Primary Congenital Glaucoma with Delayed Suprachoroidal Hemorrhage following Combined Trabeculotomy Trabeculectomy and 5-Fluorouracil. ( 26819790 )
2015
47
Cytochrome P450 1B1 and Primary Congenital Glaucoma. ( 26005555 )
2015
48
PERIPHERAL RETINAL DEGENERATIONS AND RHEGMATOGENOUS DETACHMENT IN PRIMARY CONGENITAL GLAUCOMA. ( 26200515 )
2015
49
Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients. ( 25580891 )
2015
50
A case of spontaneously resolved primary congenital glaucoma. ( 26458483 )
2015

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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