MCID: GLC030
MIFTS: 31

Glaucoma, Congenital malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Glaucoma, Congenital

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MalaCards based summary: Glaucoma, Congenital is related to cataract and glaucoma 3a, primary open angle, congenital, juvenile, or adult onset. An important gene associated with Glaucoma, Congenital is CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1), 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 tumorigenesis and pigmentation.

Aliases & Classifications for Glaucoma, Congenital

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Sources:
42NIH Rare Diseases, 22GTR, 44Novoseek
See all sources

Glaucoma, Congenital, Aliases & Descriptions:

Name: Glaucoma, Congenital 42 22 44


Classifications:

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


Related Diseases for Glaucoma, Congenital

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Diseases in the Glaucoma, Congenital family:

Juvenile Glaucoma Primary Congenital Glaucoma
Glaucoma Type 1c 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 27)
idRelated DiseaseScoreTop Affiliating Genes
1cataract29.9MYOC, PAX6
2glaucoma 3a, primary open angle, congenital, juvenile, or adult onset28.8TYR, CYP1B1, PAX6, OPTN, MYOC, FOXC1
3primary angle-closure glaucoma10.4MYOC
4primary congenital glaucoma10.4CYP1B1
5congenital nystagmus10.3PAX6
6juvenile glaucoma10.2
7axenfeld-rieger syndrome10.2CYP1B1, FOXC1
8primary open angle glaucoma juvenile onset 110.2OPTN, MYOC
9ocular hypertension10.2OPTN, MYOC
10optic nerve disease10.2OPTN, MYOC
11peters plus syndrome10.1CYP1B1, PAX6
12aniridia10.1PAX6, FOXC1
13congenital ectropion uveae10.1
14corneal dystrophy10.1PAX6, MYOC
15myopia 610.1PAX6, MYOC
16blindness10.0MYOC, FOXC1, OPTN
17primary open angle glaucoma10.0MYOC, CYP1B1, OPTN
18open-angle glaucoma10.0CYP1B1, OPTN, MYOC
19medulloblastoma10.0PAX6, CYP1B1
20friedreich ataxia congenital glaucoma9.9
21oculodentodigital dysplasia9.9
22albinism9.9TYR, PAX6
23rhyns syndrome9.9MYOC, PAX6
24microphthalmia9.9TYR, PAX6
25developmental disabilities9.8FOXC1, PAX6, TYR
26spiradenoma9.8OPTN, MYOC, PAX6, FOXC1
27malignant glioma9.6TYR, PAX6, CYP1B1

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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Drug clinical trials:

Search ClinicalTrials for Glaucoma, Congenital

Search NIH Clinical Center for Glaucoma, Congenital

Genetic Tests for Glaucoma, Congenital

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Genetic tests related to Glaucoma, Congenital:

id Genetic test Affiliating Genes
1 Glaucoma, Congenital22

Anatomical Context for Glaucoma, Congenital

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Animal Models for Glaucoma, Congenital or affiliated genes

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MGI Mouse Phenotypes related to Glaucoma, Congenital:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8PAX6, CYP1B1, TYR
2MP:00011868.4TYR, PAX6, FOXC1
3MP:00053917.7FOXC1, MYOC, PAX6, CYP1B1, TYR

Publications for Glaucoma, Congenital

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Variations for Glaucoma, Congenital

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Clinvar genetic disease variations for Glaucoma, Congenital:

6
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 variantPathogenicrs79204362GRCh37Chr 2, 38298394: 38298394
7CYP1B1NM_000104.3(CYP1B1): c.694G> C (p.Gly232Arg)single nucleotide variantPathogenicrs104893628GRCh37Chr 2, 38301838: 38301838

Expression for genes affiliated with Glaucoma, Congenital

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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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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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Compounds related to Glaucoma, Congenital according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1quinone44 2410.8CYP1B1, TYR
2theophylline44 28 24 1112.8CYP1B1, TYR
3resveratrol44 61 24 1112.7CYP1B1, TYR
4carbon449.6CYP1B1, TYR
5quercetin44 61 24 1112.5CYP1B1, TYR
6formaldehyde44 2410.3CYP1B1, TYR
7cycloheximide449.3TYR, CYP1B1, MYOC
8glutamate448.8PAX6, CYP1B1, TYR
9arginine448.7TYR, PAX6, MYOC
10dexamethasone44 50 28 1111.7OPTN, MYOC, CYP1B1, TYR
11alanine448.6TYR, PAX6, MYOC

GO Terms for genes affiliated with Glaucoma, Congenital

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Cellular components related to Glaucoma, Congenital according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.5LTBP2, MYOC

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:0076018.5PAX6, CYP1B1, TYR

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

idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:0036909.2FOXC1, PAX6
2protein bindingGO:0055156.8LTBP2, OPTN, FOXC1, MYOC, PAX6, TYR

Products for genes affiliated with Glaucoma, Congenital

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  • Antibodies
  • Proteins
  • Lysates

Sources for Glaucoma, Congenital

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet