GLC3B
MCID: GLC083
MIFTS: 33

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 56 29 13 6 71
Primary Congenital Glaucoma 52 71
Glc3b 56 52
Glaucoma, Primary Congenital, Type B 56
Glaucoma, Primary Infantile Type 3b 74
Primary Congenital Glaucoma Type 3b 52
Glaucoma Primary Congenita Type 3b 52
Glaucoma 3 Primary Infantile B 52
Glc3, Type B 56
Glc3 Type B 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive.


HPO:

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


Classifications:



External Ids:

OMIM 56 600975
MedGen 41 C1832977
SNOMED-CT via HPO 68 258211005 415176004
UMLS 71 C1533041 C1832977

Summaries for Glaucoma 3, Primary Infantile, B

MalaCards based summary : Glaucoma 3, Primary Infantile, B, also known as primary congenital glaucoma, is related to glaucoma 3, primary congenital, a and megalocornea. An important gene associated with Glaucoma 3, Primary Infantile, B is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1). The drugs Anti-Bacterial Agents and Alkylating Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and breast, and related phenotype is primary congenital glaucoma.

Wikipedia : 74 Primary juvenile glaucoma is glaucoma that develops due to ocular hypertension and is evident either at... more...

More information 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
Primary Early-Onset Glaucoma Secondary Early-Onset Glaucoma

Diseases related to Glaucoma 3, Primary Infantile, B via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary congenital, a 32.2 TEK LTBP2 CYP1B1
2 megalocornea 31.6 LTBP2 CYP1B1
3 primary congenital glaucoma 30.6 TEK LTBP2 GLC3B CYP1B1
4 juvenile glaucoma 29.9 LTBP2 CYP1B1
5 open-angle glaucoma 29.7 LTBP2 CYP1B1
6 glaucoma, primary open angle 29.7 LTBP2 CYP1B1
7 excessive tearing 29.4 LTBP2 CYP1B1
8 corneal edema 29.2 TEK LTBP2 CYP1B1
9 axenfeld-rieger syndrome 29.0 LTBP2 CYP1B1
10 peters-plus syndrome 28.9 LTBP2 CYP1B1
11 glaucoma 3, primary congenital, d 12.1
12 glaucoma 3, primary congenital, e 11.5
13 glaucoma 1, open angle, a 11.5
14 early-onset glaucoma 11.2
15 yemenite deaf-blind hypopigmentation syndrome 10.5
16 suppression amblyopia 10.3
17 amblyopia 10.3
18 glaucoma 3, primary congenital, c 10.2
19 autosomal recessive disease 10.2
20 intraocular pressure quantitative trait locus 10.2
21 blepharospasm 10.2
22 myopia 10.2
23 cataract 10.2
24 retinal detachment 10.1
25 strabismus 10.1
26 mechanical strabismus 10.1
27 optic nerve disease 10.1
28 eye disease 10.1
29 lens subluxation 10.0
30 endophthalmitis 10.0
31 refractive error 10.0
32 chromosomal triplication 10.0
33 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
34 astigmatism 9.9
35 isolated ectopia lentis 9.9
36 anisometropia 9.9
37 primary angle-closure glaucoma 9.9
38 corneal dystrophy 9.9
39 scotoma 9.9
40 47,xyy 9.9
41 anisocoria 9.8
42 neurofibromatosis, type iv, of riccardi 9.8
43 exfoliation syndrome 9.8
44 teeth present at birth 9.8
45 down syndrome 9.8
46 vitreoretinopathy, neovascular inflammatory 9.8
47 von hippel-lindau syndrome 9.8
48 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 9.8
49 3-methylglutaconic aciduria, type iii 9.8
50 anterior segment dysgenesis 3 9.8

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:

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

Symptoms via clinical synopsis from OMIM:

56
Eyes:
primary congenital glaucoma.

Clinical features from OMIM:

600975

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 Anti-Bacterial Agents
2 Alkylating Agents
3 Antibiotics, Antitubercular
4 Mitomycins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of the Ahmed Glaucoma Valve FP7 and FP8 in Pediatric Glaucoma: a Randomized Clinical Trial. Unknown status NCT01494974 Phase 4
2 Comparative Evaluation of Combined Trabeculotomy-trabeculectomy Versus Combined Trabeculotomy-trabeculectomy With Subconjunctival Implantation of Collagen Matrix Implant for Primary Congenital Glaucoma. Unknown status NCT02121171 Phase 1
3 Study of Gene, Inheritance Pattern and Genotype - Phenotype Correlations in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
4 Histopathological Examination of Iris Tissue in Buphthalmos Completed NCT04011878
5 Microcatheter Assisted Circumferential Trabeculotomy in Congenital Glaucoma Completed NCT04116450
6 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460
7 Histopathological Examination of Iris Tissue in Primary Congenital Glaucoma Not yet recruiting NCT04079725
8 Randomized Controlled Study to Evaluate Safety and Efficacy of Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Not yet recruiting NCT03541551

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:

40
Eye, Testes, Breast

Publications for Glaucoma 3, Primary Infantile, B

Articles related to Glaucoma 3, Primary Infantile, B:

(show all 17)
# Title Authors PMID Year
1
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. 61 56
8842741 1996
2
Primary Congenital Glaucoma 6
20301314 2004
3
Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. 56
8586416 1995
4
Update in Genetics and Surgical Management of Primary Congenital Glaucoma 61
31893591 2019
5
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card. 61
30089822 2018
6
Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma. 61
22219654 2011
7
Primary Congenital Glaucoma and the Involvement of CYP1B1. 61
21572728 2011
8
Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist. 61
19898634 2009
9
Null mutations in LTBP2 cause primary congenital glaucoma. 61
19361779 2009
10
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. 61
18537981 2008
11
Glaucoma in Costa Rica. Initial approaches. 61
17361544 2004
12
Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis. 61
12766061 2003
13
[Genetic studies on primary open angle glaucoma]. 61
10878949 2000
14
Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family. 61
10412516 1999
15
Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. 61
9463798 1998
16
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. 61
9097971 1997
17
Recent advances in molecular genetics of glaucomas. 61
9300658 1997

Variations for Glaucoma 3, Primary Infantile, B

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP1B1 NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu)SNV Pathogenic 7730 rs28936700 2:38302350-38302350 2:38075207-38075207
2 CYP1B1 NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter)SNV Pathogenic 7737 rs72549387 2:38302361-38302361 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 TEK CYP1B1
2 positive regulation of angiogenesis GO:0045766 8.62 TEK CYP1B1

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 TEK LTBP2

Sources for Glaucoma 3, Primary Infantile, B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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