MCID: CTR039
MIFTS: 24

Cataracts, Autosomal Dominant malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Cataracts, Autosomal Dominant

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34MalaCards
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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

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21GeneTests, 23GTR, 46Novoseek
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Classifications:

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


Aliases & Descriptions:

cataracts, autosomal dominant 21 23
cataract, autosomal dominant 46


Related Diseases for Cataracts, Autosomal Dominant

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Cataracts, Autosomal Dominant:



Diseases related to cataracts, autosomal dominant

Symptoms for Cataracts, Autosomal Dominant

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Drugs & Therapeutics for Cataracts, Autosomal Dominant

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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21GeneTests, 23GTR
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Genetic tests related to Cataracts, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Cataracts, Autosomal Dominant21 23 PITX3
2 Cataract, Autosomal Dominant23

Anatomical Context for Cataracts, Autosomal Dominant

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Animal Models for Cataracts, Autosomal Dominant or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Cataracts, Autosomal Dominant:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2GJA8, CRYAA, CRYBB2, PITX3

Publications for Cataracts, Autosomal Dominant

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Variations for Cataracts, Autosomal Dominant

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1 National Center for Biotechnology Information (Clinvar)
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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

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Cataracts, Autosomal Dominant

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46Novoseek
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Compounds related to Cataracts, Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1valine469.4GJA8, CRYAA

GO Terms for genes affiliated with Cataracts, Autosomal Dominant

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17Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cataracts, Autosomal Dominant

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet