MCID: PRM032
MIFTS: 40

Primary Congenital Glaucoma

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

Aliases & Classifications for Primary Congenital Glaucoma

MalaCards integrated aliases for Primary Congenital Glaucoma:

Name: Primary Congenital Glaucoma 12 25 36 6 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0050593
KEGG 36 H01203
UMLS 70 C1533041

Summaries for Primary Congenital Glaucoma

KEGG : 36 Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG results from developmental abnormalities that affect the aqueous humor outflow pathway. PCG clinical features include elevated IOP, corneal edema, enlargement of the globe (buphthalmos), corneal enlargement, rupture of Descemet's membrane, and optic nerve damage. Two genes have been reported to cause PCG, CYP1B1 and LTBP2. Both genes cause a recessive form of this disease.

MalaCards based summary : Primary Congenital Glaucoma is related to glaucoma 3, primary infantile, b and glaucoma 1, open angle, a. An important gene associated with Primary Congenital Glaucoma is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1), and among its related pathways/superpathways are Steroid hormone biosynthesis and Tryptophan metabolism. The drugs Mitomycins and Antibiotics, Antitubercular have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skin, and related phenotype is vision/eye.

Disease Ontology : 12 A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has material basis in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities.

GeneReviews: NBK1135

Related Diseases for Primary Congenital Glaucoma

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 Primary Congenital Glaucoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary infantile, b 32.4 TEK LTBP2 GLC3B CYP1B1
2 glaucoma 1, open angle, a 32.0 OPTN MYOC CYP1B1
3 megalocornea 31.0 WDR36 PITX2 MYOC LTBP3 LTBP2 FOXC1
4 hydrophthalmos 30.8 WDR36 PITX2 PAX6 MYOC LTBP3 LTBP2
5 corneal edema 30.8 TEK MYOC LTBP2 CYP1B1
6 intraocular pressure quantitative trait locus 30.6 WDR36 PITX2 PAX6 OPTN MYOC LTBP2
7 glaucoma 3, primary congenital, a 30.6 WDR36 TEK RMDN2 PITX2 PAX6 OPTN
8 glaucoma 1, open angle, d 30.5 OPTN MYOC LTBP2 CYP1B1 ASB10
9 primary angle-closure glaucoma 30.3 OPTN MYOC CYP1B1
10 amblyopia 30.3 PAX6 FOXE3 CRYAA
11 isolated ectopia lentis 30.2 LTBP3 LTBP2 ADAMTS10
12 excessive tearing 30.2 WDR36 MYOC LTBP3 LTBP2 FOXC1 CYP1B1
13 anisometropia 30.0 PAX6 CRYAA
14 optic nerve disease 29.9 WDR36 PAX6 OPTN MYOC CRYAA
15 lens subluxation 29.8 PAX6 LTBP2 CRYAA ADAMTS10
16 myopia 29.7 WDR36 PAX6 MYOC LTBP2 CRYAA ADAMTS10
17 open-angle glaucoma 29.4 WDR36 OPTN NTF4 MYOC LTBP2 FOXC1
18 cataract 29.4 PITX2 PAX6 FOXE3 FOXC1 CRYAA
19 eye disease 29.4 PITX2 PAX6 OPTN MYOC FOXC1 CYP1B1
20 juvenile glaucoma 28.8 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
21 peters-plus syndrome 28.6 PITX2 PAX6 MYOC LTBP3 LTBP2 FOXE3
22 axenfeld-rieger syndrome 28.3 WDR36 PITX2 PAX6 MYOC LTBP3 LTBP2
23 glaucoma, primary open angle 28.1 WDR36 PITX2 PAX6 OPTN NTF4 MYOC
24 anterior segment dysgenesis 28.1 WDR36 PITX2 PAX6 MYOC LTBP3 LTBP2
25 glaucoma 3, primary congenital, d 11.4
26 glaucoma 3, primary congenital, e 11.1
27 yemenite deaf-blind hypopigmentation syndrome 10.6
28 ifap syndrome 2 10.4
29 suppression amblyopia 10.4
30 glaucoma 3, primary congenital, c 10.3
31 autosomal recessive disease 10.3
32 traumatic glaucoma 10.3 MYOC LTBP2 CYP1B1
33 geleophysic dysplasia 3 10.3 LTBP3 LTBP2
34 blepharospasm 10.3
35 isolated microspherophakia 10.3 LTBP2 ADAMTS10
36 geleophysic dysplasia 1 10.3 LTBP3 LTBP2
37 witkop syndrome 10.3 LTBP3 LTBP2
38 geleophysic dysplasia 2 10.3 LTBP3 LTBP2
39 peripheral retinal degeneration 10.3 WDR36 MYOC
40 retinal detachment 10.3
41 strabismus 10.3
42 mechanical strabismus 10.3
43 chronic closed-angle glaucoma 10.2 MYOC FOXE3
44 early-onset glaucoma 10.2 PITX2 MYOC CYP1B1
45 acute closed-angle glaucoma 10.2 OPTN MYOC CYP1B1
46 refractive error 10.2
47 tracheal stenosis 10.1 LTBP3 ADAMTS10
48 acromicric dysplasia 10.1 LTBP3 LTBP2 ADAMTS10
49 heritable thoracic aortic disease 10.1 LTBP3 FOXE3
50 geleophysic dysplasia 10.1 LTBP3 LTBP2 ADAMTS10

Graphical network of the top 20 diseases related to Primary Congenital Glaucoma:



Diseases related to Primary Congenital Glaucoma

Symptoms & Phenotypes for Primary Congenital Glaucoma

MGI Mouse Phenotypes related to Primary Congenital Glaucoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 ADAMTS10 CYP1B1 FOXC1 LTBP2 LTBP3 MYOC

Drugs & Therapeutics for Primary Congenital Glaucoma

Drugs for Primary Congenital Glaucoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mitomycins
2 Antibiotics, Antitubercular
3 Alkylating Agents
4 Anti-Bacterial Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Randomized Controlled Study to Evaluate Safety and Efficacy of Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Unknown status NCT03541551
3 Study of Gene, Inheritance Pattern and Genotype - Phenotype Correlations in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
4 Genetic Testing in Primary Congenital Glaucoma Patients Unknown status NCT01136460
5 Surgical Outcomes of Visco-Circumferential-Suture-Trabeculotomy in Primary Congenital Glaucoma: A 3-year Randomized Controlled Study Completed NCT04683289
6 Microcatheter Assisted Circumferential Trabeculotomy in Congenital Glaucoma Completed NCT04116450
7 Comparison of Surgical Treatment Options for Primary Congenital and Developmental Glaucomas Not yet recruiting NCT04647929
8 Surgery for Primary Congenital Glaucoma in Neonates:Randomized Controlled Study. Not yet recruiting NCT04709497
9 Histopathological Examination of Iris Tissue in Primary Congenital Glaucoma Not yet recruiting NCT04079725

Search NIH Clinical Center for Primary Congenital Glaucoma

Genetic Tests for Primary Congenital Glaucoma

Anatomical Context for Primary Congenital Glaucoma

MalaCards organs/tissues related to Primary Congenital Glaucoma:

40
Eye, Retina, Skin, Endothelial

Publications for Primary Congenital Glaucoma

Articles related to Primary Congenital Glaucoma:

(show top 50) (show all 653)
# Title Authors PMID Year
1
CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment. 6 25 61
24227805 2014
2
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. 25 6 61
17591938 2007
3
Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases. 6 61
27243976 2016
4
CYP1B1 gene mutations with incomplete penetrance in a Chinese pedigree with primary congenital glaucoma: a case report and review of literatures. 6 61
26550445 2015
5
Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. 6 61
20664688 2010
6
Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. 6 61
18622259 2008
7
A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). 61 6
17224759 2007
8
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. 61 25
27270174 2016
9
Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma. 61 25
27409795 2016
10
Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma. 25 61
25826643 2015
11
A novel CYP1B1 mutation with congenital glaucoma and total aniridia. 25 61
24001018 2015
12
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma. 61 25
25091052 2015
13
Surgical interventions for primary congenital glaucoma. 61 25
25636153 2015
14
Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil. 25 61
25978063 2015
15
Pediatric glaucoma surgery: a report by the American Academy Of Ophthalmology. 25 61
25066765 2014
16
Conditions that can be mistaken as early childhood glaucoma. 61 25
21341968 2011
17
Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. 6
21306220 2011
18
Outcomes of goniotomy for primary congenital glaucoma in East Africa. 61 25
21292108 2011
19
Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. 61 25
22128238 2011
20
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. 61 25
20660114 2010
21
CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: novel mutations and association with poor prognosis. 61 25
19528825 2010
22
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. 61 25
19656777 2009
23
Null mutations in LTBP2 cause primary congenital glaucoma. 61 25
19361779 2009
24
Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families. 61 25
18776954 2008
25
Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma. 61 25
16863615 2006
26
Primary role of CYP1B1 in Indian juvenile-onset POAG patients. 25 61
16688110 2006
27
Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. 61 25
16384942 2006
28
Newborn primary congenital glaucoma: 2005 update. 25 61
16382557 2005
29
Myocilin gene implicated in primary congenital glaucoma. 25 61
15733270 2005
30
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 25 61
15342693 2004
31
Primary congenital glaucoma: 2004 update. 61 25
15478740 2004
32
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. 61 25
15255109 2004
33
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. 25 61
12525557 2003
34
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. 61 25
12372064 2002
35
Molecular genetics of primary congenital glaucoma in Brazil. 61 25
12036985 2002
36
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. 61 25
11980847 2002
37
Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. 25 61
11740343 2001
38
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. 25 61
11527932 2001
39
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. 61 25
10655546 2000
40
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. 61 25
10227395 1999
41
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. 25 61
9463332 1998
42
Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. 61 25
9463798 1998
43
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. 61 25
8842741 1996
44
Timing, rates and spectra of human germline mutation. 25
26656846 2016
45
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. 25
26310487 2015
46
CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia. 25
24099281 2015
47
Efficacy and safety of deep sclerectomy in childhood glaucoma in Saudi Arabia. 25
23241279 2014
48
Mutations of the CYP1B1 gene in congenital anterior staphylomas. 25
24591815 2014
49
Current surgical options for the management of pediatric glaucoma. 25
23738051 2013
50
Surgical management of glaucoma: evolving paradigms. 25
21150024 2011

Variations for Primary Congenital Glaucoma

ClinVar genetic disease variations for Primary Congenital Glaucoma:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP1B1 NM_000104.4(CYP1B1):c.517G>A (p.Glu173Lys) SNV Pathogenic 917724 GRCh37: 2:38302015-38302015
GRCh38: 2:38074872-38074872
2 CYP1B1 NM_000104.3(CYP1B1):c.*1027del Deletion Uncertain significance 335933 rs144188082 GRCh37: 2:38296838-38296838
GRCh38: 2:38069695-38069695
3 LTBP2 NM_000428.3(LTBP2):c.3753C>T (p.Ser1251=) SNV Uncertain significance 314280 rs763990884 GRCh37: 14:74974698-74974698
GRCh38: 14:74507995-74507995
4 LTBP2 NM_000428.3(LTBP2):c.*1518_*1520dup Duplication Uncertain significance 314249 rs565536636 GRCh37: 14:74966066-74966067
GRCh38: 14:74499363-74499364
5 LTBP2 NM_000428.3(LTBP2):c.*1743C>T SNV Uncertain significance 314247 rs781717691 GRCh37: 14:74965844-74965844
GRCh38: 14:74499141-74499141
6 LTBP2 NM_000428.3(LTBP2):c.*10dup Duplication Uncertain significance 314264 rs546442756 GRCh37: 14:74967576-74967577
GRCh38: 14:74500873-74500874
7 CYP1B1 NM_000104.3(CYP1B1):c.*1173del Deletion Uncertain significance 335928 rs3834137 GRCh37: 2:38296692-38296692
GRCh38: 2:38069549-38069549
8 CYP1B1 NM_000104.3(CYP1B1):c.*867dup Duplication Uncertain significance 335938 rs200949126 GRCh37: 2:38296997-38296998
GRCh38: 2:38069854-38069855
9 CYP1B1 NM_000104.3(CYP1B1):c.*879del Deletion Uncertain significance 335937 rs4646433 GRCh37: 2:38296986-38296986
GRCh38: 2:38069843-38069843
10 CYP1B1 NM_000104.3(CYP1B1):c.-1-10C>T SNV Uncertain significance 335956 rs780269033 GRCh37: 2:38302542-38302542
GRCh38: 2:38075399-38075399
11 CYP1B1 , RMDN2 NM_000104.3(CYP1B1):c.*2333G>A SNV Uncertain significance 335913 rs35320531 GRCh37: 2:38295532-38295532
GRCh38: 2:38068389-38068389
12 CYP1B1 NM_000104.3(CYP1B1):c.763C>T (p.Arg255Cys) SNV Uncertain significance 335954 rs886055998 GRCh37: 2:38301769-38301769
GRCh38: 2:38074626-38074626
13 CYP1B1 , RMDN2 NM_000104.3(CYP1B1):c.*2314dup Duplication Uncertain significance 335914 rs561615550 GRCh37: 2:38295550-38295551
GRCh38: 2:38068407-38068408
14 LOC110599580 , CYP1B1 NM_000104.3(CYP1B1):c.-360G>C SNV Uncertain significance 335962 rs886056002 GRCh37: 2:38303280-38303280
GRCh38: 2:38076138-38076138
15 CYP1B1 NM_000104.3(CYP1B1):c.-197C>G SNV Uncertain significance 335961 rs886056001 GRCh37: 2:38303117-38303117
GRCh38: 2:38075975-38075975
16 CYP1B1 NM_000104.3(CYP1B1):c.*1005C>T SNV Uncertain significance 335934 rs35978993 GRCh37: 2:38296860-38296860
GRCh38: 2:38069717-38069717
17 CYP1B1 , RMDN2 NM_000104.3(CYP1B1):c.*2151T>C SNV Uncertain significance 335917 rs886055989 GRCh37: 2:38295714-38295714
GRCh38: 2:38068571-38068571
18 CYP1B1 NM_000104.3(CYP1B1):c.*210dup Duplication Benign 335945 rs4646431 GRCh37: 2:38297654-38297655
GRCh38: 2:38070511-38070512
19 CYP1B1 NM_000104.3(CYP1B1):c.-97dup Duplication Benign 335960 rs11379588 GRCh37: 2:38303017-38303018
GRCh38: 2:38075874-38075875

Expression for Primary Congenital Glaucoma

Search GEO for disease gene expression data for Primary Congenital Glaucoma.

Pathways for Primary Congenital Glaucoma

Pathways related to Primary Congenital Glaucoma according to KEGG:

36
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140
2 Tryptophan metabolism hsa00380
3 Metabolism of xenobiotics by cytochrome P450 hsa00980

Pathways related to Primary Congenital Glaucoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.32 TEK PAX6 NTF4 LTBP3 LTBP2

GO Terms for Primary Congenital Glaucoma

Biological processes related to Primary Congenital Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 9.63 PITX2 FOXE3 FOXC1
2 visual perception GO:0007601 9.55 WDR36 PAX6 GUCA1C CYP1B1 CRYAA
3 eye development GO:0001654 9.5 PAX6 FOXE3 FOXC1
4 cornea development in camera-type eye GO:0061303 9.43 PAX6 FOXE3
5 positive regulation of core promoter binding GO:1904798 9.4 PAX6 FOXC1
6 lacrimal gland development GO:0032808 9.37 PAX6 FOXC1
7 trabecular meshwork development GO:0002930 9.26 FOXE3 CYP1B1
8 camera-type eye development GO:0043010 9.26 PITX2 PAX6 FOXE3 FOXC1
9 iris morphogenesis GO:0061072 8.8 PITX2 PAX6 FOXE3

Molecular functions related to Primary Congenital Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.8 TEK LTBP3 LTBP2

Sources for Primary Congenital Glaucoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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