Primary Congenital Glaucoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRM032 MIFTS: 40	Primary Congenital Glaucoma Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Primary Congenital Glaucoma

MalaCards integrated aliases for Primary Congenital Glaucoma:

Name: Primary Congenital Glaucoma ¹² ²⁵ ³⁶ ⁶ ¹⁵ ⁷⁰

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050593

KEGG ³⁶ H01203

UMLS ⁷⁰ C1533041

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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

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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:

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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

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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
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

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Genetic Tests for Primary Congenital Glaucoma

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Anatomical Context for Primary Congenital Glaucoma

MalaCards organs/tissues related to Primary Congenital Glaucoma:

⁴⁰

Eye, Retina, Skin, Endothelial

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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	Chen X...Sun X	24227805	2014
2	CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. ²⁵ ⁶ ⁶¹	Chitsazian F...Sarfarazi M	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	Banerjee A...Ray K	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	Chen L...He J	26550445	2015
5	Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. ⁶ ⁶¹	Hilal L...Berraho A	20664688	2010
6	Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. ⁶ ⁶¹	Choudhary D...Schenkman JB	18622259	2008
7	A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). ⁶¹ ⁶	El-Ashry MF...Bhattacharya SS	17224759	2007
8	Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. ⁶¹ ²⁵	Souma T...Young TL	27270174	2016
9	Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma. ⁶¹ ²⁵	Micheal S...den Hollander AI	27409795	2016
10	Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma. ²⁵ ⁶¹	Berraho A...Hilal L	25826643	2015
11	A novel CYP1B1 mutation with congenital glaucoma and total aniridia. ²⁵ ⁶¹	Alzuhairy S...Edward DP	24001018	2015
12	Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma. ⁶¹ ²⁵	Micheal S...den Hollander AI	25091052	2015
13	Surgical interventions for primary congenital glaucoma. ⁶¹ ²⁵	Ghate D...Wang X	25636153	2015
14	Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil. ²⁵ ⁶¹	de Melo MB...Chakrabarti S	25978063	2015
15	Pediatric glaucoma surgery: a report by the American Academy Of Ophthalmology. ²⁵ ⁶¹	Chen TC...Lin SC	25066765	2014
16	Conditions that can be mistaken as early childhood glaucoma. ⁶¹ ²⁵	Khan AO	21341968	2011
17	Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. ⁶	Khan AO...Alkuraya FS	21306220	2011
18	Outcomes of goniotomy for primary congenital glaucoma in East Africa. ⁶¹ ²⁵	Bowman RJ...Khaw PT	21292108	2011
19	Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. ⁶¹ ²⁵	Abu-Amero KK...Al-Obeidan SA	22128238	2011
20	A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. ⁶¹ ²⁵	Chakrabarti S...Majumder PP	20660114	2010
21	CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: novel mutations and association with poor prognosis. ⁶¹ ²⁵	Della Paolera M...de Melo MB	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	Narooie-Nejad M...Paisan-Ruiz C	19656777	2009
23	Null mutations in LTBP2 cause primary congenital glaucoma. ⁶¹ ²⁵	Ali M...Inglehearn CF	19361779	2009
24	Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families. ⁶¹ ²⁵	Firasat S...Riazuddin S	18776954	2008
25	Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma. ⁶¹ ²⁵	Zhuo YH...Ge J	16863615	2006
26	Primary role of CYP1B1 in Indian juvenile-onset POAG patients. ²⁵ ⁶¹	Acharya M...Ray K	16688110	2006
27	Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. ⁶¹ ²⁵	Chakrabarti S...Majumder PP	16384942	2006
28	Newborn primary congenital glaucoma: 2005 update. ²⁵ ⁶¹	Walton DS...Katsavounidou G	16382557	2005
29	Myocilin gene implicated in primary congenital glaucoma. ²⁵ ⁶¹	Kaur K...Chakrabarti S	15733270	2005
30	CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. ²⁵ ⁶¹	Melki R...Garchon HJ	15342693	2004
31	Primary congenital glaucoma: 2004 update. ⁶¹ ²⁵	Ho CL...Walton DS	15478740	2004
32	Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. ⁶¹ ²⁵	Curry SM...Bejjani BA	15255109	2004
33	CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. ²⁵ ⁶¹	Sitorus R...Preising M	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	Belmouden A...Garchon HJ	12372064	2002
35	Molecular genetics of primary congenital glaucoma in Brazil. ⁶¹ ²⁵	Stoilov IR...Sarfarazi M	12036985	2002
36	Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. ⁶¹ ²⁵	Panicker SG...Balasubramanian D	11980847	2002
37	Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. ²⁵ ⁶¹	Jansson I...Schenkman JB	11740343	2001
38	Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. ²⁵ ⁶¹	Mashima Y...Araie M	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	Bejjani BA...Lupski JR	10655546	2000
40	Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. ⁶¹ ²⁵	Plasilova M...Ferak V	10227395	1999
41	Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. ²⁵ ⁶¹	Bejjani BA...Lupski JR	9463332	1998
42	Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. ⁶¹ ²⁵	Plasilova M...Ferak V	9463798	1998
43	A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. ⁶¹ ²⁵	Akarsu AN...Sarfarazi M	8842741	1996
44	Timing, rates and spectra of human germline mutation. ²⁵	Rahbari R...Hurles ME	26656846	2016
45	Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. ²⁵	Huang X...Zhang Q	26310487	2015
46	CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia. ²⁵	Abu-Amero KK...Edward DP	24099281	2015
47	Efficacy and safety of deep sclerectomy in childhood glaucoma in Saudi Arabia. ²⁵	Al-Obeidan SA...Mousa A	23241279	2014
48	Mutations of the CYP1B1 gene in congenital anterior staphylomas. ²⁵	Al Judaibi R...Edward DP	24591815	2014
49	Current surgical options for the management of pediatric glaucoma. ²⁵	Morales J...Edward DP	23738051	2013
50	Surgical management of glaucoma: evolving paradigms. ²⁵	Sharaawy T...Bhartiya S	21150024	2011

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Genes for Primary Congenital Glaucoma

Genes related to Primary Congenital Glaucoma (1 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CYP1B1	Cytochrome P450 Family 1 Subfamily B Member 1	Protein Coding	448.99	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	27243976 26550445 24227805 (more) 17591938 18622259 17224759 20664688 21306220
2	LTBP2	Latent Transforming Growth Factor Beta Binding Protein 2	Protein Coding	35.31	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
3	MYOC	Myocilin	Protein Coding	26.33	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
4	FOXC1	Forkhead Box C1	Protein Coding	25.09	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
5	TEK	TEK Receptor Tyrosine Kinase	Protein Coding	21.89	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
6	WDR36	WD Repeat Domain 36	Protein Coding	15.31	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	LOC110599580	CYP1B1 Promoter	Biological Region	15.17	GeneCards inferred via : Publications Variants (show sections)
8	RMDN2	Regulator Of Microtubule Dynamics 2	Protein Coding	13	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
9	GUCA1C	Guanylate Cyclase Activator 1C	Protein Coding	12.17	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	8.06	DISEASES inferred ¹⁵
11	PITX2	Paired Like Homeodomain 2	Protein Coding	7.31	DISEASES inferred ¹⁵
12	OPTN	Optineurin	Protein Coding	7.31	DISEASES inferred ¹⁵
13	GLC3B	Glaucoma 3, Primary Infantile, B	Genetic Locus	7.31	GeneCards inferred via : Publications (show sections)
14	GLC3C	Glaucoma 3, Primary Congenital, C	Genetic Locus	7.31	GeneCards inferred via : Publications (show sections)
15	FOXE3	Forkhead Box E3	Protein Coding	6.89	DISEASES inferred ¹⁵
16	ADAMTS10	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10	Protein Coding	6.76	DISEASES inferred ¹⁵
17	ASB10	Ankyrin Repeat And SOCS Box Containing 10	Protein Coding	6.72	DISEASES inferred ¹⁵
18	CRYAA	Crystallin Alpha A	Protein Coding	6.62	DISEASES inferred ¹⁵ ¹⁵
19	PAX6	Paired Box 6	Protein Coding	6.6	DISEASES inferred ¹⁵
20	NTF4	Neurotrophin 4	Protein Coding	6.28	DISEASES inferred ¹⁵
21	LOXL1	Lysyl Oxidase Like 1	Protein Coding	6.25	DISEASES inferred ¹⁵
22	FBN1	Fibrillin 1	Protein Coding	6.13	DISEASES inferred ¹⁵

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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

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Expression for Primary Congenital Glaucoma

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

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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	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	11.32	TEK PAX6 NTF4 LTBP3 LTBP2

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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

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Sources for Primary Congenital Glaucoma

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia