MCID: CTR115
MIFTS: 14

Cataract 16, Multiple Types malady

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

Summaries for Cataract 16, Multiple Types

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Cataract 16, Multiple Types, is also known as congenital total cataract An important gene associated with Cataract 16, Multiple Types is CRYAB (crystallin, alpha B).

Description from OMIM:48 613763

Aliases & Classifications for Cataract 16, Multiple Types

About this section
Sources:
48OMIM, 63UMLS
See all sources

Classifications:



Aliases & Descriptions:

cataract 16, multiple types 48
congenital total cataract 63


Symptoms for Cataract 16, Multiple Types

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

613763

Clinical features from OMIM:

613763

Drugs & Therapeutics for Cataract 16, Multiple Types

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Cataract 16, Multiple Types

Drug clinical trials:

Search ClinicalTrials for Cataract 16, Multiple Types

Search NIH Clinical Center for Cataract 16, Multiple Types

Search CenterWatch for Cataract 16, Multiple Types

Genetic Tests for Cataract 16, Multiple Types

About this section

Anatomical Context for Cataract 16, Multiple Types

About this section

Animal Models for Cataract 16, Multiple Types or affiliated genes

About this section

Publications for Cataract 16, Multiple Types

About this section

Variations for Cataract 16, Multiple Types

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

Clinvar genetic disease variations for Cataract 16, Multiple Types:

1
id Gene Name Type Significance SNP ID Assembly Location
1CRYABCRYAB, 1-BP DEL, 450AdeletionPathogenic/card/cataract_16_multiple_types
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Cataract 16, Multiple Types

About this section

GO Terms for genes affiliated with Cataract 16, Multiple Types

About this section

Products for genes affiliated with Cataract 16, Multiple Types

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cataract 16, Multiple Types

About this section
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