MCID: PRM032
MIFTS: 41

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 24 36 6 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0050593
KEGG 36 H01203
UMLS 71 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 Alkylating Agents and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and brain, and related phenotypes are respiratory system and 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 134)
# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary infantile, b 33.2 TEK LTBP2 GLC3B CYP1B1
2 glaucoma 1, open angle, a 32.8 OPTN MYOC CYP1B1
3 early-onset glaucoma 32.3 PITX2 MYOC CYP1B1
4 megalocornea 31.2 PITX2 MYOC LTBP3 LTBP2 FOXC1 FBN1
5 glaucoma 3, primary congenital, a 31.1 WDR36 TEK RMDN2 PITX2 PAX6 OPTN
6 hydrophthalmos 31.0 WDR36 PITX2 PAX6 MYOC LTBP3 LTBP2
7 corneal edema 30.8 TEK MYOC LTBP2 CYP1B1
8 excessive tearing 30.5 WDR36 MYOC LTBP2 CYP1B1
9 primary angle-closure glaucoma 30.4 OPTN MYOC CYP1B1
10 amblyopia 30.4 PAX6 FOXE3 CRYAA
11 optic nerve disease 30.1 WDR36 OPTN MYOC CRYAA
12 isolated ectopia lentis 29.7 LTBP3 LTBP2 FBN1 ADAMTS10
13 keratopathy 29.6 PAX6 FBN1 CYP1B1
14 exotropia 29.4 PAX6 FBN1 CRYAA
15 open-angle glaucoma 29.2 WDR36 OPTN MYOC LTBP2 LOXL1 FOXC1
16 intraocular pressure quantitative trait locus 29.2 WDR36 PITX2 PAX6 OPTN MYOC LTBP2
17 axenfeld-rieger syndrome, type 3 29.0 PITX2 PAX6 FOXE3 FOXC1 CYP1B1 CRYAA
18 myopia 29.0 WDR36 PAX6 MYOC LTBP2 FBN1 CRYAA
19 anterior segment dysgenesis 28.8 PITX2 PAX6 MYOC FOXE3 FOXC1 CYP1B1
20 lens subluxation 28.8 PAX6 LTBP2 LOXL1 FBN1 CRYAA ADAMTS10
21 eye disease 28.7 PAX6 OPTN MYOC LOXL1 FBN1 CYP1B1
22 cataract 28.6 PITX2 PAX6 LOXL1 FOXE3 FOXC1 FBN1
23 peters-plus syndrome 28.2 PITX2 PAX6 MYOC LTBP3 LTBP2 FOXE3
24 juvenile glaucoma 28.1 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
25 glaucoma, primary open angle 27.9 WDR36 OPTN MYOC LTBP3 LTBP2 LOXL1
26 axenfeld-rieger syndrome 27.7 WDR36 PITX2 PAX6 MYOC LTBP3 LTBP2
27 glaucoma 3, primary congenital, d 12.1
28 glaucoma 3, primary congenital, e 11.5
29 yemenite deaf-blind hypopigmentation syndrome 10.6
30 isolated microspherophakia 10.4 LTBP2 ADAMTS10
31 traumatic glaucoma 10.4 MYOC LTBP2 CYP1B1
32 geleophysic dysplasia 3 10.4 LTBP3 LTBP2
33 weill-marchesani syndrome 1 10.4 LTBP2 ADAMTS10
34 cutis laxa, autosomal recessive, type ic 10.4 LTBP3 LTBP2
35 acute closed-angle glaucoma 10.4 OPTN MYOC
36 otopalatodigital syndrome, type ii 10.3 PITX2 FOXC1
37 isolated aniridia 10.3 PAX6 FOXC1
38 peripheral retinal degeneration 10.3 WDR36 MYOC
39 suppression amblyopia 10.3
40 glaucoma 3, primary congenital, c 10.3
41 autosomal recessive disease 10.3
42 chronic closed-angle glaucoma 10.3 MYOC LOXL1
43 congenital aphakia 10.2 PAX6 FOXE3
44 blepharospasm 10.2
45 disuse amblyopia 10.2 FOXE3 CRYAA
46 retinal detachment 10.2
47 joint laxity, short stature, and myopia 10.2
48 anterior segment dysgenesis 4 10.2 PITX2 FOXC1 CRYAA
49 cornea plana 10.2 PITX2 FOXC1 CRYAA
50 anterior segment dysgenesis 5 10.2 PAX6 CYP1B1

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.5 FBN1 FOXC1 LOXL1 LTBP2 LTBP3 PAX6
2 vision/eye MP:0005391 9.32 ADAMTS10 CYP1B1 FOXC1 LOXL1 LTBP2 LTBP3

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 Alkylating Agents
2 Anti-Bacterial 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 Genetic Testing in Primary Congenital Glaucoma Patients Unknown status NCT01136460
5 Randomized Controlled Study to Evaluate Safety and Efficacy of Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Unknown status NCT03541551
6 Histopathological Examination of Iris Tissue in Buphthalmos Completed NCT04011878
7 Microcatheter Assisted Circumferential Trabeculotomy in Congenital Glaucoma Completed NCT04116450
8 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, Testes, Brain, Retina, Heart, Skin, Endothelial

Publications for Primary Congenital Glaucoma

Articles related to Primary Congenital Glaucoma:

(show top 50) (show all 591)
# Title Authors PMID Year
1
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. 24 61
27270174 2016
2
Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma. 61 24
27409795 2016
3
Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma. 24 61
25826643 2015
4
A novel CYP1B1 mutation with congenital glaucoma and total aniridia. 24 61
24001018 2015
5
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma. 61 24
25091052 2015
6
Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil. 61 24
25978063 2015
7
Surgical interventions for primary congenital glaucoma. 61 24
25636153 2015
8
Pediatric glaucoma surgery: a report by the American Academy Of Ophthalmology. 24 61
25066765 2014
9
CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment. 24 61
24227805 2014
10
Conditions that can be mistaken as early childhood glaucoma. 24 61
21341968 2011
11
Outcomes of goniotomy for primary congenital glaucoma in East Africa. 61 24
21292108 2011
12
Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. 61 24
22128238 2011
13
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. 61 24
20660114 2010
14
CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: novel mutations and association with poor prognosis. 24 61
19528825 2010
15
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. 61 24
19656777 2009
16
Null mutations in LTBP2 cause primary congenital glaucoma. 61 24
19361779 2009
17
Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families. 24 61
18776954 2008
18
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. 61 24
17591938 2007
19
Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma. 24 61
16863615 2006
20
Primary role of CYP1B1 in Indian juvenile-onset POAG patients. 61 24
16688110 2006
21
Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. 24 61
16384942 2006
22
Newborn primary congenital glaucoma: 2005 update. 61 24
16382557 2005
23
Myocilin gene implicated in primary congenital glaucoma. 61 24
15733270 2005
24
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 61 24
15342693 2004
25
Primary congenital glaucoma: 2004 update. 24 61
15478740 2004
26
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. 24 61
15255109 2004
27
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. 24 61
12525557 2003
28
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. 61 24
12372064 2002
29
Molecular genetics of primary congenital glaucoma in Brazil. 61 24
12036985 2002
30
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. 61 24
11980847 2002
31
Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. 61 24
11740343 2001
32
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. 24 61
11527932 2001
33
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. 24 61
10655546 2000
34
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. 61 24
10227395 1999
35
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. 61 24
9463332 1998
36
Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. 61 24
9463798 1998
37
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. 61 24
8842741 1996
38
Timing, rates and spectra of human germline mutation. 24
26656846 2016
39
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. 24
26310487 2015
40
CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia. 24
24099281 2015
41
Efficacy and safety of deep sclerectomy in childhood glaucoma in Saudi Arabia. 24
23241279 2014
42
Mutations of the CYP1B1 gene in congenital anterior staphylomas. 24
24591815 2014
43
Current surgical options for the management of pediatric glaucoma. 24
23738051 2013
44
Surgical management of glaucoma: evolving paradigms. 24
21150024 2011
45
Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. 24
22025892 2011
46
A homozygous mutation in LTBP2 causes isolated microspherophakia. 24
20617341 2010
47
Advances in the management of paediatric glaucoma. 24
17914435 2007
48
Coexistent congenital hereditary endothelial dystrophy and congenital glaucoma. 24
17592310 2007
49
Distribution and determinants of intraocular pressure in a normal pediatric population. 24
16491720 2006
50
Medical therapy of pediatric glaucoma and glaucoma in pregnancy. 24
16055002 2005

Variations for Primary Congenital Glaucoma

ClinVar genetic disease variations for Primary Congenital Glaucoma:

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

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
10.79 LTBP3 LTBP2 LOXL1 FBN1

GO Terms for Primary Congenital Glaucoma

Cellular components related to Primary Congenital Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.46 LTBP2 LOXL1 FBN1 ADAMTS10
2 collagen-containing extracellular matrix GO:0062023 9.1 MYOC LTBP3 LTBP2 LOXL1 FBN1 ADAMTS10
3 microfibril GO:0001527 8.96 FBN1 ADAMTS10

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.76 WDR36 PAX6 CYP1B1 CRYAA
2 anatomical structure morphogenesis GO:0009653 9.56 PITX2 FOXE3 FOXC1 FBN1
3 collagen fibril organization GO:0030199 9.54 LOXL1 FOXC1 CYP1B1
4 eye development GO:0001654 9.5 PAX6 FOXE3 FOXC1
5 cornea development in camera-type eye GO:0061303 9.48 PAX6 FOXE3
6 positive regulation of core promoter binding GO:1904798 9.43 PAX6 FOXC1
7 lacrimal gland development GO:0032808 9.4 PAX6 FOXC1
8 trabecular meshwork development GO:0002930 9.16 FOXE3 CYP1B1
9 iris morphogenesis GO:0061072 9.13 PITX2 PAX6 FOXE3
10 camera-type eye development GO:0043010 9.02 PITX2 PAX6 FOXE3 FOXC1 FBN1

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
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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