MCID: CTR115
MIFTS: 15

Cataract 16, Multiple Types malady

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

Summaries for Cataract 16, Multiple Types

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OMIM:46 Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as... (613763) more...

MalaCards based summary: Cataract 16, Multiple Types and has symptoms including congenital cataract, retinal dystrophy and autosomal dominant inheritance. An important gene associated with Cataract 16, Multiple Types is CRYAB (crystallin, alpha B).

Aliases & Classifications for Cataract 16, Multiple Types

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Cataract 16, Multiple Types, Aliases & Descriptions:

Name: Cataract 16, Multiple Types 46


Classifications:



Related Diseases for Cataract 16, Multiple Types

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Symptoms for Cataract 16, Multiple Types

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Symptoms by clinical synopsis from OMIM:

613763

Clinical features from OMIM:

613763

HPO human phenotypes related to Cataract 16, Multiple Types:

id Description Frequency HPO Source Accession
1 congenital cataract rare (5%) HP:0000519
2 retinal dystrophy rare (5%) HP:0000556
3 autosomal dominant inheritance HP:0000006
4 autosomal recessive inheritance HP:0000007
5 posterior polar cataract HP:0001115

Drugs & Therapeutics for Cataract 16, Multiple Types

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Drug clinical trials:

Search ClinicalTrials for Cataract 16, Multiple Types

Search NIH Clinical Center for Cataract 16, Multiple Types

Genetic Tests for Cataract 16, Multiple Types

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Anatomical Context for Cataract 16, Multiple Types

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Animal Models for Cataract 16, Multiple Types or affiliated genes

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Publications for Cataract 16, Multiple Types

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Variations for Cataract 16, Multiple Types

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Clinvar genetic disease variations for Cataract 16, Multiple Types:

7
id Gene Name Type Significance SNP ID Assembly Location
1CRYABCRYAB, 1-BP DEL, 450AdeletionPathogenic
2CRYABNM_001885.2(CRYAB): c.418G> A (p.Asp140Asn)single nucleotide variantPathogenicrs387907336GRCh37Chr 11, 111779598: 111779598
3CRYABNM_001885.2(CRYAB): c.58C> T (p.Pro20Ser)single nucleotide variantPathogenicrs387907337GRCh37Chr 11, 111782391: 111782391
4CRYABNM_001885.2(CRYAB): c.166C> T (p.Arg56Trp)single nucleotide variantPathogenicrs387907338GRCh37Chr 11, 111782283: 111782283

Expression for genes affiliated with Cataract 16, Multiple Types

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Expression patterns in normal tissues for genes affiliated with Cataract 16, Multiple Types

Search GEO for disease gene expression data for Cataract 16, Multiple Types.

Pathways for genes affiliated with Cataract 16, Multiple Types

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Compounds for genes affiliated with Cataract 16, Multiple Types

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GO Terms for genes affiliated with Cataract 16, Multiple Types

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Products for genes affiliated with Cataract 16, Multiple Types

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

Sources for Cataract 16, Multiple Types

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet