MCID: CTR039
MIFTS: 24

Cataracts, Autosomal Dominant malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories
Download this MalaCard

Summaries for Cataracts, Autosomal Dominant

About this section
Sources:
33MalaCards
See all sources

Fully expand 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). The compound valine 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, 45Novoseek
See all sources

Classifications:

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


Aliases & Descriptions:

cataracts, autosomal dominant 20 22
cataract, autosomal dominant 45


Related Diseases for Cataracts, Autosomal Dominant

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

Graphical network of diseases related to Cataracts, Autosomal Dominant:



Diseases related to cataracts, autosomal dominant

Symptoms for Cataracts, Autosomal Dominant

About this section

Drugs & Therapeutics for Cataracts, Autosomal Dominant

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Cataracts, Autosomal Dominant

Search NIH Clinical Center 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:
37MGI
See all sources

MGI Mouse Phenotypes related to Cataracts, Autosomal Dominant:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2GJA8, CRYAA, CRYBB2, PITX3

Publications for Cataracts, Autosomal Dominant

About this section

Variations for Cataracts, Autosomal Dominant

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Cataracts, Autosomal Dominant:

1
id Gene Name Type Significance SNP ID Assembly Location
1CRYAANM_000394.3(CRYAA): c.346C> T (p.Arg116Cys)single nucleotide variantPathogenicrs74315439GRCh37Chr 21, 44592214: 44592214
2CRYAANM_000394.3(CRYAA): c.145C> T (p.Arg49Cys)single nucleotide variantPathogenicrs74315441GRCh37Chr 21, 44589354: 44589354
3CRYAANM_000394.3(CRYAA): c.347G> A (p.Arg116His)single nucleotide variantPathogenicrs121912973GRCh37Chr 21, 44592215: 44592215
4CRYAANM_000394.3(CRYAA): c.292G> A (p.Gly98Arg)single nucleotide variantPathogenicrs398122947GRCh37Chr 21, 44590729: 44590729
5CRYAANM_000394.3(CRYAA): c.160C> T (p.Arg54Cys)single nucleotide variantPathogenicrs397515623GRCh37Chr 21, 44589369: 44589369
6CRYAANM_000394.3(CRYAA): c.62G> A (p.Arg21Gln)single nucleotide variantPathogenicrs397515626GRCh37Chr 21, 44589271: 44589271

Expression for genes affiliated with Cataracts, Autosomal Dominant

About this section
Sources:
2BioGPS, 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

Compounds for genes affiliated with Cataracts, Autosomal Dominant

About this section
Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1valine459.4GJA8, CRYAA

GO Terms for genes affiliated with Cataracts, Autosomal Dominant

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1protein homooligomerizationGO:0512609.4GJA8, CRYAA
2lens development in camera-type eyeGO:0020889.2GJA8, PITX3
3visual perceptionGO:0076017.9GJA8, CRYBB1, CRYAA, CRYBB2

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.1CRYAA, CRYBB2
2structural constituent of eye lensGO:0052128.2CRYBB1, CRYAA, CRYBB2

Products for genes affiliated with Cataracts, Autosomal Dominant

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cataracts, Autosomal Dominant

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet