MCID: CTR039
MIFTS: 26

Cataracts, Autosomal Dominant malady

Summaries for Cataracts, Autosomal Dominant

About this section
Sources:
32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Cataracts, Autosomal Dominant, also known as cataract, autosomal dominant, is related to cataract and optic atrophy and cataract, autosomal dominant. An important gene associated with Cataracts, Autosomal Dominant is PITX3 (paired-like homeodomain 3), and among its related pathways are Cell adhesion Gap junctions and Gap junction trafficking. The compounds cp-49 and ptx1 have been mentioned in the context of this disorder. Related mouse phenotype vision/eye.

Aliases & Classifications for Cataracts, Autosomal Dominant

About this section
Sources:
20GeneTests, 22GTR, 44Novoseek
See all sources

Aliases & Descriptions:

cataracts, autosomal dominant 20 22
cataract, autosomal dominant 44


Related Diseases for Cataracts, Autosomal Dominant

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Cataract 39, Multiple Types, Autosomal Dominant family:

Cataract Congenital Autosomal Dominant Cataract, Autosomal Recessive Congenital 2
cataracts, autosomal dominant Cataracts, Autosomal Recessive
Cataract, Autosomal Recessive Congenital 1 Cataract, Autosomal Recessive Congenital 4
Cataract, Autosomal Recessive Congenital 5 Cataract, Autosomal Dominant, Multiple Types 1
Foxe3-Related Cataracts, Autosomal Dominant Cataract 18, Autosomal Recessive
Cataract 38, Autosomal Recessive Cataract 37, Autosomal Dominant
Cataract 22, Autosomal Recessive

Diseases related to Cataracts, Autosomal Dominant via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1cataract30.2GJA8, BFSP2, GJA3, MIP, CRYGD, CRYGC
2optic atrophy and cataract, autosomal dominant10.5
3deafness progressive cataract autosomal dominant10.3
4cataract, autosomal dominant, multiple types 110.3
5foxe3-related cataracts, autosomal dominant10.2
6optic atrophy 3 with cataract10.2
7autosomal dominant childhood-onset cortical cataract10.2
8optic atrophy 2, x-linked10.0
9posterior polar cataract10.0PITX3
10peters plus syndrome10.0PITX2
11anterior segment mesenchymal dysgenesis10.0FOXE3, PITX3
12blindness10.0CRYGC, CRYAA
13anophthalmia/microphthalmia10.0PITX2, PITX3
14cataract 3, multiple types10.0CRYBB2, CRYGC
15axenfeld-rieger syndrome type 110.0PITX3, PITX2
16glaucoma10.0MIP, PITX2
17microphthalmia10.0FOXE3, PITX3, CRYAA, GJA8
18aniridia10.0PITX2, FOXE3
19cataract 4, multiple types10.0GJA8, CRYGD, CRYAA
20senile cataract10.0CRYBB2, CRYBB1, CRYAA, MIP, GJA8
21cataract, congenital9.9GJA3, MIP, CRYGD, CRYAA, CRYBB1, CRYBB2

Graphical network of the top 20 diseases related to Cataracts, Autosomal Dominant:



Diseases related to cataracts, autosomal dominant

Clinical Features for Cataracts, Autosomal Dominant

About this section

Drugs & Therapeutics for Cataracts, Autosomal Dominant

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Cataracts, Autosomal Dominant

Drug clinical trials:

Search ClinicalTrials for Cataracts, Autosomal Dominant

Search NIH Clinical Center for Cataracts, Autosomal Dominant

Search CenterWatch for Cataracts, Autosomal Dominant

Genetic Tests for Cataracts, Autosomal Dominant

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Cataracts, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Cataracts, Autosomal Dominant20 22 PITX3
2 Cataract, Autosomal Dominant22

Anatomical Context for Cataracts, Autosomal Dominant

About this section

Animal Models for Cataracts, Autosomal Dominant or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Cataracts, Autosomal Dominant:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053915.3GJA8, FOXE3, OPA3, PITX3, PITX2, CRYBB2

Publications for Cataracts, Autosomal Dominant

About this section

Genetic Variations for Cataracts, Autosomal Dominant

About this section

Expression for genes affiliated with Cataracts, Autosomal Dominant

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cataracts, Autosomal Dominant

Search GEO for disease gene expression data for Cataracts, Autosomal Dominant.

Pathways for genes affiliated with Cataracts, Autosomal Dominant

About this section
Sources:
12EMD Millipore, 53Reactome
See all sources

Pathways related to Cataracts, Autosomal Dominant according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cell adhesion Gap junctions
Hide members
9.7GJA8, GJA3
2
Hide members
9.7GJA8, GJA3

Compounds for genes affiliated with Cataracts, Autosomal Dominant

About this section
Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 2BitterDB, 11DrugBank
See all sources

Compounds related to Cataracts, Autosomal Dominant according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1cp-49449.9MIP, BFSP2
2ptx1449.9PITX3, PITX2
3gap 27599.9GJA3, GJA8
4carbenoxolone disodium599.9GJA3, GJA8
5scrambled 10panx599.8GJA3, GJA8
610panx599.8GJA3, GJA8
7octanol28 2410.7GJA8, GJA3
8flufenamic acid44 28 2 1112.7GJA8, GJA3
9carbenoxolone28 44 1111.6GJA3, GJA8
10ca2+289.4GJA8, GJA3
11mp 26449.4GJA3, MIP, CRYAA

GO Terms for genes affiliated with Cataracts, Autosomal Dominant

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Cataracts, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:0059229.7GJA8, GJA3

Biological processes related to Cataracts, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lens morphogenesis in camera-type eyeGO:0020899.9PITX3, FOXE3
2lens fiber cell differentiationGO:0703069.3CRYGD, PITX3
3camera-type eye developmentGO:0430109.1PITX2, CRYBB2, CRYGC
4lens development in camera-type eyeGO:0020888.8PITX3, CRYGD, MIP, GJA8
5response to stimulusGO:0508968.5MIP, CRYBB2, OPA3, BFSP2
6visual perceptionGO:0076016.1GJA8, BFSP2, OPA3, CRYBB2, CRYBB1, CRYAA

Molecular functions related to Cataracts, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:0052127.6MIP, CRYGD, CRYGC, CRYAA, CRYBB1, CRYBB2

Products for genes affiliated with Cataracts, Autosomal Dominant

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cataracts, Autosomal Dominant

About this section
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