MCID: GLC083
MIFTS: 35

Glaucoma 3, Primary Infantile, B

Categories: Rare diseases, Genetic diseases, Eye diseases, Fetal 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 primary congenital glaucoma and glaucoma 3, primary congenital, a. An important gene associated with Glaucoma 3, Primary Infantile, B is TEK (TEK Receptor Tyrosine Kinase). Affiliated tissues include eye, testes and brain, 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, Brain, Skin

Publications for Glaucoma 3, Primary Infantile, B

Articles related to Glaucoma 3, Primary Infantile, B:

(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

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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