MCID: CTR039
MIFTS: 30

Cataracts, Autosomal Dominant malady

Summaries for Cataracts, Autosomal Dominant

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MalaCards: Cataracts, Autosomal Dominant, also known as cataract, autosomal dominant, is related to cataract, congenital 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

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20GeneTests, 22GTR, 45Novoseek
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Aliases & Descriptions:

cataracts, autosomal dominant 20 22
cataract, autosomal dominant 45


Related Diseases for Cataracts, Autosomal Dominant

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17GeneCards, 18GeneDecks
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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
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 23)
idRelated DiseaseScoreTop Affiliating Genes
1cataract, congenital30.3GJA3, MIP, CRYGD, CRYAA, CRYBB1, CRYBB2
2optic atrophy and cataract, autosomal dominant10.5
3deafness progressive cataract autosomal dominant10.3
4cataract, autosomal dominant, multiple types 110.3
5cataract congenital autosomal dominant10.2
6foxe3-related cataracts, autosomal dominant10.2
7optic atrophy 3 with cataract10.2
8autosomal dominant childhood-onset cortical cataract10.2
9cerulean cataract10.0
10optic atrophy 2, x-linked10.0
11posterior polar cataract10.0PITX3
12peters plus syndrome10.0PITX2
13anterior segment mesenchymal dysgenesis10.0FOXE3, PITX3
14blindness10.0CRYGC, CRYAA
15anophthalmia/microphthalmia10.0PITX2, PITX3
16cataract 3, multiple types10.0CRYBB2, CRYGC
17axenfeld-rieger syndrome type 110.0PITX3, PITX2
18glaucoma10.0MIP, PITX2
19microphthalmia10.0FOXE3, PITX3, CRYAA, GJA8
20aniridia10.0PITX2, FOXE3
21cataract 4, multiple types10.0GJA8, CRYGD, CRYAA
22senile cataract10.0CRYBB2, CRYBB1, CRYAA, MIP, GJA8
23cataract9.9GJA8, BFSP2, GJA3, MIP, CRYGD, CRYGC

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



Diseases related to cataracts, autosomal dominant

Clinical Features for Cataracts, Autosomal Dominant

Drugs & Therapeutics for Cataracts, Autosomal Dominant

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cataracts, Autosomal Dominant

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20GeneTests, 22GTR
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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

Animal Models for Cataracts, Autosomal Dominant or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Cataracts, Autosomal Dominant:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053915.3GJA8, FOXE3, OPA3, PITX3, PITX2, CRYBB2

Publications for Cataracts, Autosomal Dominant

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51PubMed
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Articles related to Cataracts, Autosomal Dominant:

(show all 24)
idTitleAuthorsYear
1
A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family. (23288997)
2012
2
Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. (23288985)
2012
3
A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. (22876111)
2012
4
A novel Ta89G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family. (22665976)
2012
5
A Ga89T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family. (21850182)
2011
6
Autosomal dominant congenital nuclear cataracts caused by a CRYAA gene mutation. (20465443)
2010
7
A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family. (20361015)
2010
8
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. (19204787)
2009
9
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts. (18334953)
2008
10
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts. (18449377)
2008
11
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. (18958306)
2008
12
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. (17701905)
2007
13
A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant 'nuclear punctate' cataracts linked to chromosome 13q. (15208569)
2004
14
Further genetic heterogeneity for autosomal dominant human sutural cataracts. (12646746)
2003
15
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. (12676897)
2003
16
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. (12011157)
2002
17
Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts. (12567263)
2002
18
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. (10802646)
2000
19
A new locus for autosomal dominant congenital cataracts maps to chromosome 3. (10634598)
2000
20
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). (10746562)
2000
21
A novel homeobox gene PITX3 is mutated in families with autosomal- dominant cataracts and ASMD. (9620774)
1998
22
Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? (9196902)
1997
23
Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation. (6694185)
1984
24
Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome. (7065945)
1982

Genetic Variations for Cataracts, Autosomal Dominant

Expression for genes affiliated with Cataracts, Autosomal Dominant

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cataracts, Autosomal Dominant

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Pathways for genes affiliated with Cataracts, Autosomal Dominant

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12EMD Millipore, 54Reactome
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Pathways related to Cataracts, Autosomal Dominant according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Cataracts, Autosomal Dominant

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45Novoseek, 60Tocris Bioscience, 29IUPHAR, 24HMDB, 2BitterDB, 11DrugBank
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Compounds related to Cataracts, Autosomal Dominant according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1cp-49459.9MIP, BFSP2
2ptx1459.9PITX3, PITX2
3gap 27609.9GJA3, GJA8
4carbenoxolone disodium609.9GJA3, GJA8
5scrambled 10panx609.8GJA3, GJA8
610panx609.8GJA3, GJA8
7octanol29 2410.7GJA8, GJA3
8flufenamic acid45 29 2 1112.7GJA8, GJA3
9carbenoxolone29 45 1111.6GJA3, GJA8
10ca2+299.4GJA8, GJA3
11mp 26459.4GJA3, MIP, CRYAA

GO Terms for genes affiliated with Cataracts, Autosomal Dominant

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16Gene Ontology
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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

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Sources for Cataracts, Autosomal Dominant

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet