MCID: GLC030
MIFTS: 33

Glaucoma, Congenital malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Glaucoma, Congenital

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34MalaCards
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MalaCards: Glaucoma, Congenital is related to glaucoma and glaucoma 3, primary congenital, d. An important gene associated with Glaucoma, Congenital is FOXC1 (forkhead box C1), and among its related pathways is Transcriptional Regulatory Network in Embryonic Stem Cell. The compounds quinone and theophylline have been mentioned in the context of this disorder. Related mouse phenotypes are renal/urinary system and pigmentation.

Aliases & Classifications for Glaucoma, Congenital

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44NIH Rare Diseases, 23GTR, 46Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


Aliases & Descriptions:

glaucoma, congenital 44 23 46


Related Diseases for Glaucoma, Congenital

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Glaucoma family:

Juvenile Glaucoma Primary Congenital Glaucoma
Glaucoma Type 1c glaucoma, congenital
Glaucoma, Hereditary Glaucoma, Hereditary Adult Type 1a
Glaucoma, Hereditary Juvenile Type 1b Cyp1b1-Related Primary Congenital Glaucoma
Ltbp2-Related Primary Congenital Glaucoma Early-Onset Glaucoma
Glaucoma 3, Primary Congenital, D Glaucoma 3, Primary Congenital, C

Diseases related to Glaucoma, Congenital via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1glaucoma30.4TYR, CYP1B1, PAX6, MYOC, FOXC1, OPTN
2glaucoma 3, primary congenital, d30.0OPTN, FOXC1, MYOC, PAX6, CYP1B1, TYR
3cataract29.9MYOC, PAX6
4juvenile glaucoma10.2
5primary angle-closure glaucoma10.1MYOC
6primary congenital glaucoma10.1CYP1B1
7congenital nystagmus10.0PAX6
8axenfeld-rieger syndrome10.0FOXC1, CYP1B1
9primary open angle glaucoma juvenile onset 110.0MYOC, OPTN
10ocular hypertension10.0OPTN, MYOC
11optic nerve disease10.0MYOC, OPTN
12aniridia10.0FOXC1, PAX6
13peters plus syndrome10.0PAX6, CYP1B1
14corneal dystrophy10.0PAX6, MYOC
15albinism10.0PAX6, TYR
16myopia 610.0MYOC, PAX6
17blindness10.0MYOC, FOXC1, OPTN
18microphthalmia10.0PAX6, TYR
19primary open angle glaucoma10.0OPTN, MYOC, CYP1B1
20open-angle glaucoma10.0CYP1B1, MYOC, OPTN
21rhyns syndrome10.0PAX6, MYOC
22developmental disabilities10.0TYR, PAX6, FOXC1
23medulloblastoma9.9CYP1B1, PAX6
24friedreich ataxia congenital glaucoma9.9
25oculodentodigital dysplasia9.9
26congenital ectropion uveae9.9
27malignant glioma9.9TYR, CYP1B1, PAX6
28leukemia9.9PAX6, CYP1B1, TYR
29eye disease9.9PAX6, MYOC, FOXC1, OPTN

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



Diseases related to glaucoma, congenital

Symptoms for Glaucoma, Congenital

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Drugs & Therapeutics for Glaucoma, Congenital

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Glaucoma, Congenital

Drug clinical trials:

Search ClinicalTrials for Glaucoma, Congenital

Search NIH Clinical Center for Glaucoma, Congenital

Search CenterWatch for Glaucoma, Congenital

Genetic Tests for Glaucoma, Congenital

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23GTR
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Genetic tests related to Glaucoma, Congenital:

id Genetic test Affiliating Genes
1 Glaucoma, Congenital23

Anatomical Context for Glaucoma, Congenital

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Animal Models for Glaucoma, Congenital or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Glaucoma, Congenital:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7FOXC1, PAX6, TYR
2MP:00011868.6TYR, PAX6, FOXC1
3MP:00020068.3PAX6, CYP1B1, TYR
4MP:00053917.7FOXC1, MYOC, PAX6, CYP1B1, TYR

Publications for Glaucoma, Congenital

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Variations for Glaucoma, Congenital

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Glaucoma, Congenital:

1
id Gene Name Type Significance SNP ID Assembly Location
1LTBP2NM_000428.2(LTBP2): c.5376delC (p.Cys1793Alafs)deletionPathogenicrs137854895GRCh37Chr 14, 74967677: 74967677
2CYP1B1NM_000104.3(CYP1B1): c.182G> A (p.Gly61Glu)single nucleotide variantPathogenicrs28936700GRCh37Chr 2, 38302350: 38302350
3CYP1B1NM_000104.3(CYP1B1): c.1405C> T (p.Arg469Trp)single nucleotide variantPathogenicrs28936701GRCh37Chr 2, 38298092: 38298092
4CYP1B1NM_000104.3(CYP1B1): c.1120G> A (p.Asp374Asn)single nucleotide variantPathogenicrs104893622GRCh37Chr 2, 38298377: 38298377
5CYP1B1NM_000104.3(CYP1B1): c.1159G> A (p.Glu387Lys)single nucleotide variantPathogenicrs55989760GRCh37Chr 2, 38298338: 38298338
6CYP1B1NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His)single nucleotide variantPathogenic, Uncertain significancers79204362GRCh37Chr 2, 38298394: 38298394
7CYP1B1NM_000104.3(CYP1B1): c.694G> C (p.Gly232Arg)single nucleotide variantPathogenicrs104893628GRCh37Chr 2, 38301838: 38301838
8CYP1B1NM_000104.3(CYP1B1): c.1267A> T (p.Asn423Tyr)single nucleotide variantPathogenicrs104893629GRCh37Chr 2, 38298230: 38298230

Expression for genes affiliated with Glaucoma, Congenital

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glaucoma, Congenital

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

Pathways for genes affiliated with Glaucoma, Congenital

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51PathCards, 54QIAGEN
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Pathways related to Glaucoma, Congenital according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2FOXC1, PAX6

Compounds for genes affiliated with Glaucoma, Congenital

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Sources:
46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank, 62Tocris Bioscience, 52PharmGKB
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Compounds related to Glaucoma, Congenital according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1quinone46 2510.7CYP1B1, TYR
2theophylline46 30 25 1212.7CYP1B1, TYR
3resveratrol46 62 25 1212.6CYP1B1, TYR
4quercetin46 62 25 1212.5CYP1B1, TYR
5formaldehyde46 2510.5CYP1B1, TYR
6dmso469.4CYP1B1, TYR
7carbon469.3CYP1B1, TYR
8cycloheximide469.2TYR, CYP1B1, MYOC
9arginine468.9MYOC, PAX6, TYR
10alanine468.8MYOC, PAX6, TYR
11glutamate468.8TYR, CYP1B1, PAX6
12dexamethasone46 52 30 1211.6OPTN, MYOC, CYP1B1, TYR
13oxygen46 259.6TYR, CYP1B1, PAX6
14retinoic acid46 259.3PAX6, CYP1B1, TYR

GO Terms for genes affiliated with Glaucoma, Congenital

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17Gene Ontology
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Biological processes related to Glaucoma, Congenital according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1eye developmentGO:0016549.2FOXC1, PAX6
2lacrimal gland developmentGO:0328089.1FOXC1, PAX6
3visual perceptionGO:0076018.3PAX6, CYP1B1, TYR

Molecular functions related to Glaucoma, Congenital according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:0036908.9FOXC1, PAX6
2protein bindingGO:0055157.6OPTN, FOXC1, MYOC, PAX6, TYR

Products for genes affiliated with Glaucoma, Congenital

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glaucoma, Congenital

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet