MCID: CTR027
MIFTS: 32

Cataract-Glaucoma malady

Eye diseases, Fetal diseases categories

Summaries for Cataract-Glaucoma

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32MalaCards
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MalaCards: Cataract-Glaucoma is related to glaucoma and cataract. An important gene associated with Cataract-Glaucoma is PITX3 (paired-like homeodomain 3), and among its related pathways are Heart Development and Wnt / Hedgehog / Notch. The compounds ptx1 and glycyrrhetinic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are pigmentation and taste/olfaction.

Aliases & Classifications for Cataract-Glaucoma

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Sources:
42NIH Rare Diseases, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
cataract-glaucoma:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cataract-glaucoma 42 48


External Ids:

ICD10 via Orphanet26 Q12.0

Related Diseases for Cataract-Glaucoma

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Cataract-Glaucoma:



Diseases related to cataract-glaucoma

Clinical Features for Cataract-Glaucoma

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Drugs & Therapeutics for Cataract-Glaucoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cataract-Glaucoma

Drug clinical trials:

Search ClinicalTrials for Cataract-Glaucoma

Search NIH Clinical Center for Cataract-Glaucoma

Search CenterWatch for Cataract-Glaucoma

Genetic Tests for Cataract-Glaucoma

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Anatomical Context for Cataract-Glaucoma

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32MalaCards
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MalaCards organs/tissues related to Cataract-Glaucoma:

32
Eye

Animal Models for Cataract-Glaucoma or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Cataract-Glaucoma:

36 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.2PITX3, OTX2
2MP:00053949.2PAX6, OTX2, SOX2
3MP:00053778.5PAX6, OTX2, GJA1, SOX2
4MP:00053818.5SOX2, FOXC1, PITX2, OTX2, PAX6
5MP:00053828.1SOX2, FOXC1, PITX2, GJA1, OTX2, PAX6
6MP:00053698.1SOX2, FOXC1, PITX2, GJA1, OTX2, PAX6
7MP:00053808.1SOX2, FOXC1, PITX2, GJA1, OTX2, PAX6
8MP:00107718.0SOX2, FOXC1, PITX3, GJA1, PAX6
9MP:00053887.9SOX2, FOXC1, PITX3, PITX2, GJA1, OTX2
10MP:00053867.8PAX6, OTX2, GJA1, AKR1B1, PITX3, SOX2
11MP:00053797.6SOX2, FOXC1, PITX3, PITX2, GJA1, OTX2
12MP:00036317.5SOX2, FOXC1, PITX3, PITX2, GJA1, OTX2
13MP:00053847.5SOX2, FOXC1, PITX3, PITX2, GJA1, OTX2
14MP:00053857.5FOXC1, PITX2, GJA1, OTX2, PAX6, GSR
15MP:00053907.4SOX2, FOXC1, PITX3, PITX2, AKR1B1, GJA1
16MP:00053897.2SOX2, FOXC1, PITX3, PITX2, OCRL, GJA1
17MP:00107687.1SOX2, FOXC1, PITX2, AKR1B1, OCRL, GJA1
18MP:00028736.9SOX2, FOXC1, PITX2, OCRL, GJA1, OTX2
19MP:00053786.9SOX2, FOXC1, PITX3, PITX2, AKR1B1, OCRL
20MP:00053766.9SOX2, FOXC1, PITX3, PITX2, AKR1B1, OCRL
21MP:00053915.8GSR, SOX2, FOXC1, PITX3, PITX2, AKR1B1

Publications for Cataract-Glaucoma

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Genetic Variations for Cataract-Glaucoma

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Expression for genes affiliated with Cataract-Glaucoma

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cataract-Glaucoma

Search GEO for disease gene expression data for Cataract-Glaucoma.

Pathways for genes affiliated with Cataract-Glaucoma

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Sources:
37NCBI BioSystems Database, 4Cell Signaling Technology, 51QIAGEN, 12EMD Millipore
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Pathways related to Cataract-Glaucoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PITX2, FOXC1
29.4OTX2, FOXC1, SOX2
39.1SOX2, FOXC1, PAX6
48.6PAX6, OTX2, GJA1, SOX2

Compounds for genes affiliated with Cataract-Glaucoma

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Cataract-Glaucoma according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1ptx14410.0PITX2, PITX3
2glycyrrhetinic acid44 2410.6GJA1, AKR1B1
3tolrestat44 1110.4GSR, AKR1B1
4s-nitroso-n-acetylpenicillamine449.3AKR1B1, GJA1
5methylglyoxal44 2810.3AKR1B1, GSR
6phenylbutyrate449.3GSR, GJA1
7lycopene44 2410.2GSR, GJA1
8nadp+449.2AKR1B1, GSR
9gsno448.8AKR1B1, GSR
10epinephrine44 11 2410.8GSR, AKR1B1, PITX2
11arginine448.1GSR, PAX6, AKR1B1, PITX2

GO Terms for genes affiliated with Cataract-Glaucoma

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Sources:
16Gene Ontology
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Cellular components related to Cataract-Glaucoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.3PITX2, FOXC1, SOX2
2cytoplasmGO:0057377.0TDRD7, SOX2, FOXC1, PITX2, AKR1B1, OCRL
3nucleusGO:0056346.8SOX2, FOXC1, PITX3, PITX2, AKR1B1, OCRL

Biological processes related to Cataract-Glaucoma according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell differentiationGO:07030610.1TDRD7, PITX3
2lens morphogenesis in camera-type eyeGO:00208910.1PITX3, TDRD7
3diencephalon morphogenesisGO:04885210.1OTX2, SOX2
4midbrain developmentGO:0309019.9OTX2, PITX3
5lacrimal gland developmentGO:0328089.8PAX6, FOXC1
6iris morphogenesisGO:0610729.7PITX2, PAX6
7positive regulation of epithelial cell differentiationGO:0308589.7SOX2, PAX6
8camera-type eye developmentGO:0430109.7FOXC1, PITX2
9positive regulation of neuroblast proliferationGO:0020529.6PAX6, SOX2
10neuron fate commitmentGO:0486639.6PAX6, SOX2
11pituitary gland developmentGO:0219839.5PAX6, SOX2
12negative regulation of neuron differentiationGO:0456659.4PAX6, SOX2
13eye developmentGO:0016549.4PAX6, FOXC1, SOX2
14lens development in camera-type eyeGO:0020889.4PAX6, GJA1, PITX3
15neuron migrationGO:0017649.2PAX6, GJA1, PITX2
16negative regulation of epithelial cell proliferationGO:0506809.1PAX6, SOX2
17in utero embryonic developmentGO:0017019.1FOXC1, PITX2, OCRL, GJA1
18regulation of transcription, DNA-dependentGO:0063558.9SOX2, FOXC1, PITX3, PITX2, OTX2
19positive regulation of transcription, DNA-dependentGO:0458938.8SOX2, FOXC1, PITX3, OTX2, PAX6
20positive regulation of transcription from RNA polymerase II promoterGO:0459448.7SOX2, FOXC1, PITX2, OTX2, PAX6

Molecular functions related to Cataract-Glaucoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin DNA bindingGO:0314909.5PITX2, FOXC1
2RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positiveGO:0010779.4OTX2, PITX2, SOX2
3transcription factor bindingGO:0081349.1PAX6, PITX2, FOXC1
4sequence-specific DNA bindingGO:0435659.0SOX2, FOXC1, PITX3, OTX2
5sequence-specific DNA binding transcription factor activityGO:0037008.2PAX6, SOX2, FOXC1, PITX3, PITX2, OTX2

Products for genes affiliated with Cataract-Glaucoma

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Sources for Cataract-Glaucoma

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet