MCID: PRM032
MIFTS: 43

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 Anti-Bacterial Agents and Alkylating Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and heart, and related phenotypes are muscle 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 113)
# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary infantile, b 33.1 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 30.9 WDR36 PITX2 MYOC LTBP3 LTBP2 FOXC1
5 corneal edema 30.8 TEK MYOC LTBP2 CYP1B1
6 excessive tearing 30.4 WDR36 MYOC LTBP2 CYP1B1
7 primary angle-closure glaucoma 30.3 OPTN MYOC CYP1B1
8 optic nerve disease 30.3 WDR36 OPTN MYOC
9 intraocular pressure quantitative trait locus 30.2 WDR36 PITX2 PAX6 OPTN MYOC FOXC1
10 open-angle glaucoma 30.1 WDR36 OPTN MYOC LTBP2 FOXC1 CYP1B1
11 lens subluxation 29.9 PAX6 FBN1 ADAMTS10
12 glaucoma 3, primary congenital, a 29.8 WDR36 TEK POMT1 PITX2 PAX6 OPTN
13 isolated ectopia lentis 29.8 LTBP3 LTBP2 FBN1 ADAMTS10
14 myopia 29.4 WDR36 PAX6 MYOC LTBP2 FBN1 ADAMTS10
15 axenfeld-rieger syndrome, type 3 29.3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
16 anterior segment dysgenesis 29.3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
17 cataract 29.1 PITX2 PAX6 FOXE3 FOXC1 FBN1
18 juvenile glaucoma 28.8 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
19 eye disease 28.8 WDR36 PITX2 PAX6 OPTN MYOC FOXC1
20 glaucoma, primary open angle 28.2 WDR36 SRBD1 OPTN MYOC LTBP3 LTBP2
21 peters-plus syndrome 27.7 POMT1 PITX2 PAX6 MYOC LTBP3 LTBP2
22 axenfeld-rieger syndrome 27.6 WDR36 PITX2 PAX6 OPTN MYOC LTBP3
23 glaucoma 3, primary congenital, d 12.1
24 glaucoma 3, primary congenital, e 11.5
25 yemenite deaf-blind hypopigmentation syndrome 10.5
26 traumatic glaucoma 10.5 MYOC LTBP2
27 isolated microspherophakia 10.4 LTBP2 ADAMTS10
28 weill-marchesani syndrome 1 10.4 LTBP2 ADAMTS10
29 acute closed-angle glaucoma 10.3 OPTN MYOC
30 anterior segment dysgenesis 5 10.3 PAX6 CYP1B1
31 isolated aniridia 10.3 PAX6 FOXC1
32 suppression amblyopia 10.3
33 amblyopia 10.3
34 glaucoma 3, primary congenital, c 10.2
35 autosomal recessive disease 10.2
36 peripheral retinal degeneration 10.2 WDR36 MYOC
37 blepharospasm 10.2
38 ocular hypertension 10.2 WDR36 OPTN MYOC
39 cranial nerve disease 10.2 WDR36 OPTN MYOC
40 axenfeld-rieger syndrome, type 2 10.2 PITX2 FOXC1 ASB10
41 acromicric dysplasia 10.2 LTBP3 FBN1
42 anterior segment dysgenesis 4 10.1 PITX2 FOXC1 ASB10
43 retinal detachment 10.1
44 strabismus 10.1
45 mechanical strabismus 10.1
46 steroid-induced glaucoma 10.1 WDR36 OPTN MYOC CYP1B1
47 congenital aphakia 10.1 PAX6 FOXE3
48 ectopia lentis 2, isolated, autosomal recessive 10.1 FBN1 ADAMTS10
49 acquired color blindness 10.1 PITX2 PAX6 FOXC1
50 ectopia lentis 1, isolated, autosomal dominant 10.1 FBN1 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.5 ADAMTS10 FBN1 FOXC1 PAX6 PITX2 POMT1
2 vision/eye MP:0005391 9.36 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 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 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, Heart, Brain, Skin, Endothelial

Publications for Primary Congenital Glaucoma

Articles related to Primary Congenital Glaucoma:

(show top 50) (show all 568)
# Title Authors PMID Year
1
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. 61 24
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. 61 24
25826643 2015
4
A novel CYP1B1 mutation with congenital glaucoma and total aniridia. 61 24
24001018 2015
5
Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil. 61 24
25978063 2015
6
Surgical interventions for primary congenital glaucoma. 61 24
25636153 2015
7
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma. 61 24
25091052 2015
8
Pediatric glaucoma surgery: a report by the American Academy Of Ophthalmology. 61 24
25066765 2014
9
CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment. 61 24
24227805 2014
10
Conditions that can be mistaken as early childhood glaucoma. 61 24
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. 61 24
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. 61 24
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. 61 24
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. 61 24
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. 61 24
15478740 2004
26
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. 61 24
15255109 2004
27
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. 61 24
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. 61 24
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. 61 24
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 top 50) (show all 155) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP1B1 NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys)SNV Conflicting interpretations of pathogenicity, other 68467 rs57865060 2:38301847-38301847 2:38074704-38074704
2 LTBP2 NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=)SNV Conflicting interpretations of pathogenicity 314270 rs139030976 14:74969989-74969989 14:74503286-74503286
3 LTBP2 NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys)SNV Conflicting interpretations of pathogenicity 314271 rs143456909 14:74970271-74970271 14:74503568-74503568
4 LTBP2 NM_000428.3(LTBP2):c.3527-3C>ASNV Conflicting interpretations of pathogenicity 314282 rs138194436 14:74975435-74975435 14:74508732-74508732
5 LTBP2 NM_000428.3(LTBP2):c.2541A>G (p.Arg847=)SNV Conflicting interpretations of pathogenicity 314299 rs140719298 14:74989611-74989611 14:74522908-74522908
6 LTBP2 NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met)SNV Conflicting interpretations of pathogenicity 314272 rs117800773 14:74970695-74970695 14:74503992-74503992
7 LTBP2 NM_000428.3(LTBP2):c.2789-9T>CSNV Conflicting interpretations of pathogenicity 314293 rs368269193 14:74983653-74983653 14:74516950-74516950
8 LTBP2 NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=)SNV Conflicting interpretations of pathogenicity 314274 rs80088294 14:74970744-74970744 14:74504041-74504041
9 LTBP2 NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=)SNV Conflicting interpretations of pathogenicity 314277 rs141318496 14:74972839-74972839 14:74506136-74506136
10 LTBP2 NM_000428.3(LTBP2):c.2853G>A (p.Ser951=)SNV Conflicting interpretations of pathogenicity 314290 rs151176143 14:74983580-74983580 14:74516877-74516877
11 LTBP2 NM_000428.3(LTBP2):c.800C>T (p.Ser267Leu)SNV Conflicting interpretations of pathogenicity 314316 rs149952751 14:75052587-75052587 14:74585884-74585884
12 LTBP2 NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=)SNV Conflicting interpretations of pathogenicity 314276 rs150977380 14:74971852-74971852 14:74505149-74505149
13 LTBP2 NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=)SNV Conflicting interpretations of pathogenicity 314278 rs61738013 14:74973898-74973898 14:74507195-74507195
14 LTBP2 NM_000428.3(LTBP2):c.450G>T (p.Arg150=)SNV Conflicting interpretations of pathogenicity 314317 rs111342797 14:75078198-75078198 14:74611495-74611495
15 LTBP2 NM_000428.3(LTBP2):c.-33C>ASNV Uncertain significance 314320 rs886050760 14:75078680-75078680 14:74611977-74611977
16 LTBP2 NM_000428.3(LTBP2):c.-64C>TSNV Uncertain significance 314323 rs886050762 14:75078711-75078711 14:74612008-74612008
17 LTBP2 NM_000428.3(LTBP2):c.-93C>TSNV Uncertain significance 314324 rs769936231 14:75078740-75078740 14:74612037-74612037
18 LTBP2 NM_000428.3(LTBP2):c.3114G>A (p.Gln1038=)SNV Uncertain significance 314286 rs886050756 14:74976831-74976831 14:74510128-74510128
19 LTBP2 NM_000428.3(LTBP2):c.3076A>G (p.Thr1026Ala)SNV Uncertain significance 314287 rs759008893 14:74976869-74976869 14:74510166-74510166
20 LTBP2 NM_000428.3(LTBP2):c.2588A>G (p.Asn863Ser)SNV Uncertain significance 314298 rs562124154 14:74989564-74989564 14:74522861-74522861
21 LTBP2 NM_000428.3(LTBP2):c.2283C>T (p.Ser761=)SNV Uncertain significance 314300 rs537908823 14:74995271-74995271 14:74528568-74528568
22 LTBP2 NM_000428.3(LTBP2):c.2184C>T (p.His728=)SNV Uncertain significance 314301 rs140818407 14:74995370-74995370 14:74528667-74528667
23 LTBP2 NM_000428.3(LTBP2):c.1132A>C (p.Thr378Pro)SNV Uncertain significance 314312 rs200471693 14:75019655-75019655 14:74552952-74552952
24 LTBP2 NM_000428.3(LTBP2):c.1021+14G>ASNV Uncertain significance 314314 rs150408645 14:75022192-75022192 14:74555489-74555489
25 LTBP2 NM_000428.3(LTBP2):c.-55G>ASNV Uncertain significance 314322 rs571506111 14:75078702-75078702 14:74611999-74611999
26 LTBP2 NM_000428.3(LTBP2):c.*2026T>CSNV Uncertain significance 314244 rs886050748 14:74965561-74965561 14:74498858-74498858
27 LTBP2 NM_000428.3(LTBP2):c.*1743C>TSNV Uncertain significance 314247 rs781717691 14:74965844-74965844 14:74499141-74499141
28 LTBP2 NM_000428.3(LTBP2):c.*1302G>CSNV Uncertain significance 314250 rs191692241 14:74966285-74966285 14:74499582-74499582
29 LTBP2 NM_000428.3(LTBP2):c.*147A>TSNV Uncertain significance 314262 rs886050753 14:74967440-74967440 14:74500737-74500737
30 LTBP2 NM_000428.3(LTBP2):c.*55G>ASNV Uncertain significance 314263 rs185374765 14:74967532-74967532 14:74500829-74500829
31 LTBP2 NM_000428.3(LTBP2):c.*10dupduplication Uncertain significance 314264 rs546442756 14:74967576-74967577 14:74500873-74500874
32 LTBP2 NM_000428.3(LTBP2):c.5269T>C (p.Cys1757Arg)SNV Uncertain significance 314267 rs886050755 14:74968195-74968195 14:74501492-74501492
33 LTBP2 NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp)SNV Uncertain significance 314275 rs150484024 14:74971770-74971770 14:74505067-74505067
34 LTBP2 NM_000428.3(LTBP2):c.2788+15C>GSNV Uncertain significance 314294 rs376663839 14:74988599-74988599 14:74521896-74521896
35 LTBP2 NM_000428.3(LTBP2):c.2788+14G>ASNV Uncertain significance 314295 rs753628301 14:74988600-74988600 14:74521897-74521897
36 LTBP2 NM_000428.3(LTBP2):c.2178C>T (p.Ala726=)SNV Uncertain significance 314302 rs144866585 14:74995376-74995376 14:74528673-74528673
37 LTBP2 NM_000428.3(LTBP2):c.2041G>A (p.Gly681Ser)SNV Uncertain significance 314303 rs373539611 14:74995772-74995772 14:74529069-74529069
38 LTBP2 NM_000428.3(LTBP2):c.1833G>A (p.Gly611=)SNV Uncertain significance 314304 rs775155970 14:75002660-75002660 14:74535957-74535957
39 LTBP2 NM_000428.3(LTBP2):c.1796C>T (p.Pro599Leu)SNV Uncertain significance 314305 rs139018077 14:75002697-75002697 14:74535994-74535994
40 LTBP2 NM_000428.3(LTBP2):c.1531C>A (p.Pro511Thr)SNV Uncertain significance 314309 rs553562104 14:75017922-75017922 14:74551219-74551219
41 LTBP2 NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu)SNV Uncertain significance 314311 rs371940681 14:75018988-75018988 14:74552285-74552285
42 LTBP2 NM_000428.3(LTBP2):c.3176C>A (p.Ala1059Asp)SNV Uncertain significance 314285 rs369840829 14:74976538-74976538 14:74509835-74509835
43 LTBP2 NM_000428.3(LTBP2):c.2771C>T (p.Ala924Val)SNV Uncertain significance 314296 rs142675579 14:74988631-74988631 14:74521928-74521928
44 LTBP2 NM_000428.3(LTBP2):c.*743G>ASNV Uncertain significance 314255 rs541978964 14:74966844-74966844 14:74500141-74500141
45 LTBP2 NM_000428.3(LTBP2):c.*229C>TSNV Uncertain significance 314259 rs141989493 14:74967358-74967358 14:74500655-74500655
46 LTBP2 NM_000428.3(LTBP2):c.*206C>TSNV Uncertain significance 314260 rs192723743 14:74967381-74967381 14:74500678-74500678
47 LTBP2 NM_000428.3(LTBP2):c.5296G>T (p.Asp1766Tyr)SNV Uncertain significance 314265 rs772174775 14:74968168-74968168 14:74501465-74501465
48 LTBP2 NM_000428.3(LTBP2):c.4869G>A (p.Leu1623=)SNV Uncertain significance 314269 rs61738022 14:74969941-74969941 14:74503238-74503238
49 CYP1B1 NM_000104.3(CYP1B1):c.-2G>ASNV Uncertain significance 335958 rs9341245 2:38302923-38302923 2:38075780-38075780
50 CYP1B1 NM_000104.3(CYP1B1):c.*2660T>ASNV Uncertain significance 335908 rs886055987 2:38295205-38295205 2:38068062-38068062

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
10.66 LTBP3 LTBP2 FBN1
2 10.35 LTBP2 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 collagen-containing extracellular matrix GO:0062023 9.02 MYOC LTBP3 LTBP2 FBN1 ADAMTS10
2 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 anatomical structure morphogenesis GO:0009653 9.61 PITX2 FOXE3 FOXC1
2 positive regulation of focal adhesion assembly GO:0051894 9.46 TEK MYOC
3 eye development GO:0001654 9.43 PAX6 FOXE3 FOXC1
4 cornea development in camera-type eye GO:0061303 9.4 PAX6 FOXE3
5 positive regulation of core promoter binding GO:1904798 9.37 PAX6 FOXC1
6 lacrimal gland development GO:0032808 9.32 PAX6 FOXC1
7 trabecular meshwork development GO:0002930 9.16 FOXE3 CYP1B1
8 iris morphogenesis GO:0061072 9.13 PITX2 PAX6 FOXE3
9 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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