MCID: CTR113
MIFTS: 24

Cataract 11, Multiple Types malady

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

Summaries for Cataract 11, Multiple Types

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OMIM:47 Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as... (610623) more...

MalaCards based summary: Cataract 11, Multiple Types, also known as posterior polar cataract, 4, is related to cataract and posterior polar cataract, and has symptoms including autosomal dominant inheritance An important gene associated with Cataract 11, Multiple Types is PITX3 (paired-like homeodomain 3).

Aliases & Classifications for Cataract 11, Multiple Types

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Cataract 11, Multiple Types, Aliases & Descriptions:

Name: Cataract 11, Multiple Types 47 11
Posterior Polar Cataract, 4 43 24
Cataract, Posterior Polar, 4 43
 
Cataract 11, Syndromic 47
Ctpp4 43
Cpp4 43


Classifications:



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OMIM47 610623

Related Diseases for Cataract 11, Multiple Types

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Symptoms for Cataract 11, Multiple Types

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Symptoms by clinical synopsis from OMIM:

610623

Clinical features from OMIM:

610623

HPO human phenotypes related to Cataract 11, Multiple Types:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006

Drugs & Therapeutics for Cataract 11, Multiple Types

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Drug clinical trials:

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Search NIH Clinical Center for Cataract 11, Multiple Types

Genetic Tests for Cataract 11, Multiple Types

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Genetic tests related to Cataract 11, Multiple Types:

id Genetic test Affiliating Genes
1 Cataract, Posterior Polar, 424

Anatomical Context for Cataract 11, Multiple Types

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Animal Models for Cataract 11, Multiple Types or affiliated genes

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Publications for Cataract 11, Multiple Types

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Variations for Cataract 11, Multiple Types

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UniProtKB/Swiss-Prot genetic disease variations for Cataract 11, Multiple Types:

64
id Symbol AA change Variation ID SNP ID
1PITX3p.Ser13AsnVAR_003767

Expression for genes affiliated with Cataract 11, Multiple Types

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Search GEO for disease gene expression data for Cataract 11, Multiple Types.

Pathways for genes affiliated with Cataract 11, Multiple Types

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Compounds for genes affiliated with Cataract 11, Multiple Types

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GO Terms for genes affiliated with Cataract 11, Multiple Types

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Products for genes affiliated with Cataract 11, Multiple Types

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cataract 11, Multiple Types

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet