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 57 29 13 6 72
Primary Congenital Glaucoma 53 72
Glc3b 57 53
Glaucoma, Primary Congenital, Type B 57
Glaucoma, Primary Infantile Type 3b 75
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
UMLS 72 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 open-angle glaucoma. An important gene associated with Glaucoma 3, Primary Infantile, B is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1). The drugs Alkylating Agents and Nucleic Acid Synthesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are primary congenital glaucoma and vision/eye

Wikipedia : 75 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 68)
# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary congenital, a 31.9 TEK LTBP2 CYP1B1
2 open-angle glaucoma 29.6 LTBP2 CYP1B1
3 excessive tearing 29.2 LTBP2 CYP1B1
4 corneal edema 29.0 TEK LTBP2 CYP1B1
5 primary congenital glaucoma 28.9 TEK LTBP2 CYP1B1
6 glaucoma 3, primary congenital, d 12.1
7 megalocornea 11.5
8 glaucoma 3, primary congenital, e 11.5
9 glaucoma 1, open angle, a 11.5
10 early-onset glaucoma 11.2
11 yemenite deaf-blind hypopigmentation syndrome 10.5
12 glaucoma, primary open angle 10.4
13 juvenile glaucoma 10.4
14 suppression amblyopia 10.3
15 amblyopia 10.3
16 autosomal recessive disease 10.2
17 intraocular pressure quantitative trait locus 10.2
18 glaucoma 3, primary congenital, c 10.2
19 blepharospasm 10.2
20 myopia 10.2
21 retinal detachment 10.1
22 strabismus 10.1
23 cataract 10.1
24 mechanical strabismus 10.1
25 optic nerve disease 10.1
26 eye disease 10.1
27 lens subluxation 10.0
28 endophthalmitis 10.0
29 refractive error 10.0
30 chromosomal triplication 10.0
31 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
32 peters-plus syndrome 9.9
33 astigmatism 9.9
34 isolated ectopia lentis 9.9
35 anisometropia 9.9
36 primary angle-closure glaucoma 9.9
37 corneal dystrophy 9.9
38 scotoma 9.9
39 47,xyy 9.9
40 anisocoria 9.8
41 neurofibromatosis, type iv, of riccardi 9.8
42 exfoliation syndrome 9.8
43 teeth present at birth 9.8
44 down syndrome 9.8
45 vitreoretinopathy, neovascular inflammatory 9.8
46 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 9.8
47 3-methylglutaconic aciduria, type iii 9.8
48 anterior segment dysgenesis 3 9.8
49 axenfeld-rieger syndrome, type 3 9.8
50 hydrops, lactic acidosis, and sideroblastic anemia 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:

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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
primary congenital glaucoma.

Clinical features from OMIM:

600975

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

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 Alkylating Agents
2 Nucleic Acid Synthesis Inhibitors
3 Mitomycins
4 Antibiotics, Antitubercular
5 Anti-Bacterial Agents

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 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460
6 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:

41
Testes

Publications for Glaucoma 3, Primary Infantile, B

Articles related to Glaucoma 3, Primary Infantile, B:

(show all 16)
# Title Authors PMID Year
1
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. 38 8
8842741 1996
2
Primary Congenital Glaucoma 71
20301314 2004
3
Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. 8
8586416 1995
4
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card. 38
30089822 2018
5
Primary Congenital Glaucoma and the Involvement of CYP1B1. 38
21572728 2011
6
Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma. 38
22219654 2011
7
Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist. 38
19898634 2009
8
Null mutations in LTBP2 cause primary congenital glaucoma. 38
19361779 2009
9
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. 38
18537981 2008
10
Glaucoma in Costa Rica. Initial approaches. 38
17361544 2004
11
Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis. 38
12766061 2003
12
[Genetic studies on primary open angle glaucoma]. 38
10878949 2000
13
Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family. 38
10412516 1999
14
Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. 38
9463798 1998
15
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. 38
9097971 1997
16
Recent advances in molecular genetics of glaucomas. 38
9300658 1997

Variations for Glaucoma 3, Primary Infantile, B

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CYP1B1 NM_000104.3(CYP1B1): c.182G> A (p.Gly61Glu) single nucleotide variant Pathogenic rs28936700 2:38302350-38302350 2:38075207-38075207
2 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....