MCID: CTR134
MIFTS: 35

Cataract 23 malady

Genetic diseases, Eye diseases, Fetal diseases, Rare diseases, Cancer diseases, Oral diseases categories
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Summaries for Cataract 23

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47OMIM, 33MalaCards
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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:47 610425, 613763, 615188, 115700, 116800 600881, 604219, 604307, 615274 more

Aliases & Classifications for Cataract 23

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47OMIM, 49Orphanet, 59SNOMED-CT via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
lamellar cataract:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

cataract 23 47
lamellar cataract 49
zonular cataract 49


External Ids:

SNOMED-CT via Orphanet59 21590003
MESH via Orphanet36 C535342
ICD10 via Orphanet26 Q12.0

Related Diseases for Cataract 23

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Sources:
17GeneCards, 18GeneDecks
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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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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Cataract 23

Search NIH Clinical Center for Cataract 23

Genetic Tests for Cataract 23

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Anatomical Context for Cataract 23

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33MalaCards
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MalaCards organs/tissues related to Cataract 23:

33
Eye

Animal Models for Cataract 23 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cataract 23:

37
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:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cataract 23:

64
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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2BioGPS, 15Gene 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:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Cataract 23 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1succinimide459.7CRYAB, CRYAA
2methionine sulfoxide45 24 1111.4CRYAB, CRYAA
3urea45 24 1111.3CRYAB, MIP
4mp 26459.1CRYAA, MIP

GO Terms for genes affiliated with Cataract 23

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16Gene 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
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  • Lysates
  • Antibodies

Sources for Cataract 23

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet