MCID: CTR134
MIFTS: 35

Cataract 23 malady

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

Summaries for Cataract 23

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Sources:
48OMIM, 34MalaCards
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MalaCards: Cataract 23, also known as lamellar cataract, is related to posterior polar cataract and cataract. An important gene associated with Cataract 23 is CRYBA4 (crystallin, beta A4). The compounds succinimide and methionine sulfoxide have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotype vision/eye.

Description from OMIM:48 610425, 613763, 615188, 115700, 116800 600881, 604219, 604307, 615274 more

Aliases & Classifications for Cataract 23

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Sources:
48OMIM, 50Orphanet, 60SNOMED-CT via Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
lamellar cataract:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

cataract 23 48
lamellar cataract 50
zonular cataract 50


External Ids:

SNOMED-CT via Orphanet60 21590003
MESH via Orphanet37 C535342
ICD10 via Orphanet27 Q12.0

Related Diseases for Cataract 23

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of diseases related to Cataract 23:



Diseases related to cataract 23

Symptoms for Cataract 23

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Sources:
48OMIM
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Clinical features from OMIM:

610425,613763,615188,115700,116800,600881,604219,604307,615274

Drugs & Therapeutics for Cataract 23

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Cataract 23

Search NIH Clinical Center for Cataract 23

Search CenterWatch for Cataract 23

Genetic Tests for Cataract 23

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Anatomical Context for Cataract 23

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Sources:
34MalaCards
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MalaCards organs/tissues related to Cataract 23:

34
Eye

Animal Models for Cataract 23 or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Cataract 23:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053916.4CRYAB, CRYGC, CRYAA, CRYBA1, CRYGB, CRYGD

Publications for Cataract 23

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Variations for Cataract 23

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cataract 23:

65
id Symbol AA change Variation ID SNP ID
1CRYBA4p.Leu69ProVAR_029528
2CRYBA4p.Phe94SerVAR_029529

Clinvar genetic disease variations for Cataract 23:

1
id Gene Name Type Significance SNP ID Assembly Location
1CRYBA4NM_001886.2(CRYBA4): c.281T> C (p.Phe94Ser)single nucleotide variantPathogenicrs74315486GRCh37Chr 22, 27021567: 27021567
2CRYBA4NM_001886.2(CRYBA4): c.206T> C (p.Leu69Pro)single nucleotide variantPathogenicrs74315487GRCh37Chr 22, 27021492: 27021492
3HSF4NM_001040667.2(HSF4): c.341T> C (p.Leu114Pro)single nucleotide variantPathogenicrs121909048GRCh37Chr 16, 67199730: 67199730
4HSF4NM_001040667.2(HSF4): c.355C> T (p.Arg119Cys)single nucleotide variantPathogenicrs28937573GRCh37Chr 16, 67199744: 67199744
5HSF4NM_001040667.2(HSF4): c.56C> A (p.Ala19Asp)single nucleotide variantPathogenicrs121909049GRCh37Chr 16, 67198770: 67198770
6HSF4NM_001040667.2(HSF4): c.256A> G (p.Ile86Val)single nucleotide variantPathogenicrs121909050GRCh37Chr 16, 67199645: 67199645

Expression for genes affiliated with Cataract 23

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cataract 23

Search GEO for disease gene expression data for Cataract 23.

Pathways for genes affiliated with Cataract 23

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Compounds for genes affiliated with Cataract 23

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Sources:
46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Cataract 23 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1succinimide469.7CRYAB, CRYAA
2methionine sulfoxide46 25 1211.4CRYAB, CRYAA
3urea46 25 1211.3CRYAB, MIP
4mp 26469.1CRYAA, MIP

GO Terms for genes affiliated with Cataract 23

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17Gene Ontology
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Cellular components related to Cataract 23 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.7CRYAB, CRYGC, CRYAA, CRYBA1, CRYGB, CRYGD
2nucleusGO:0056346.9CRYAB, HSF4, CRYGD, CRYGB, CRYBA1, CRYAA

Biological processes related to Cataract 23 according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of intracellular transportGO:0323879.8CRYAA, CRYAB
2tubulin complex assemblyGO:0070219.8CRYAB, CRYAA
3apoptotic process involved in morphogenesisGO:0605619.7CRYAB, CRYAA
4negative regulation of gene expressionGO:0106299.7CRYAB, CRYAA
5lens fiber cell morphogenesisGO:0703099.7CRYGB, CRYAA
6response to hydrogen peroxideGO:0425429.6CRYAA, CRYAB
7camera-type eye developmentGO:0430109.4CRYGC, CRYBA4, HSF4
8negative regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:0431549.4CRYAB, CRYAA
9lens development in camera-type eyeGO:0020888.4MIP, CRYGD, CRYBA1, CRYAB
10visual perceptionGO:0076017.2CRYGC, CRYAA, CRYBA1, CRYBA4, CRYGB, CRYGD

Molecular functions related to Cataract 23 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1unfolded protein bindingGO:0510829.7CRYAB, CRYAA
2structural constituent of eye lensGO:0052126.3CRYAB, MIP, CRYGD, CRYGB, CRYBA4, CRYBA1

Products for genes affiliated with Cataract 23

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cataract 23

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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