MCID: CTR103
MIFTS: 39

Cataract 4, Multiple Types malady

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

Summaries for Cataract 4, Multiple Types

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48OMIM, 34MalaCards
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MalaCards: Cataract 4, Multiple Types, also known as cerulean cataract, is related to cataract and cerulean cataract. An important gene associated with Cataract 4, Multiple Types is CRYGD (crystallin, gamma D). The compound mp 26 have been mentioned in the context of this disorder. Affiliated tissues include cortex and eye, and related mouse phenotype vision/eye.

Description from OMIM:48 115700, 115800, 115660, 601547, 610202 614422, 615274, 116400, 601371, 604219, 607304, 609376, 609741, 610019, 611544, 601885, 302200 more

Aliases & Classifications for Cataract 4, Multiple Types

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Sources:
50Orphanet, 48OMIM, 27ICD10 via Orphanet, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
coralliform cataract:
Age of onset: Neonatal/infancy
cerulean cataract:
Age of onset: Childhood
nuclear cataract:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cataract 4, multiple types 48
cerulean cataract 50 48
coralliform cataract 50
blue-dot cataract 50
nuclear cataract 50


External Ids:

ICD10 via Orphanet27 Q12.0
MESH via Orphanet37 C537955
SNOMED-CT via Orphanet60 53889007, 5361003
UMLS via Orphanet64 C0392557, C1112705

Related Diseases for Cataract 4, Multiple Types

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Cataract 4, Multiple Types family:

Cataract Cataract, Total Congenital
Cataract 8, Multiple Types Cataract 6, Multiple Types
Cataract 34, Multiple Types Cataract 1, Multiple Types
Cataract 2, Multiple Types Cataract 12, Multiple Types
Cataract 20, Multiple Types Cataract 41
Cataract 26, Multiple Types Cataract 36
Cataract 11, Multiple Types Cataract 16, Multiple Types
Cataract 15, Multiple Types Cataract 14, Multiple Types
Cataract 32, Multiple Types Cataract, Congenital
Cataract 25 Cataract 5, Multiple Types
Cataract 10, Multiple Types Cataract 7
Cataract 19 Cataract 33
Cataract 31, Multiple Types Cataract 9, Multiple Types
Cataract 17, Multiple Types Cataract 3, Multiple Types
Cataract 23

Diseases related to Cataract 4, Multiple Types via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1cataract30.6NHS, MIP, GJA3, CRYBB1, CRYAA, CRYBB2
2cerulean cataract10.8
3retinitis pigmentosa10.4
4blepharophimosis10.4
5retinitis10.4
6autosomal recessive nonsyndromic congenital nuclear cataract10.4
7myotonic dystrophy10.3
8cataract 29, coralliform10.2
9nuclear senile cataract10.1
10diabetes insipidus10.1WFS1
11presbyopia10.0
12microphthalmia10.0
13hypohidrotic ectodermal dysplasia10.0
14coloboma10.0
15eye disease10.0
16myopia10.0
17cataract congenital dominant non nuclear10.0
18ectodermal dysplasia10.0
19fanconi bickel syndrome10.0
20cataract 4110.0
21cataract 30, pulverulent10.0
22cataract 35, congenital nuclear10.0
23cataracts, autosomal dominant10.0CRYBB2, CRYAA, CRYBB1
24senile cataract9.9CRYBB2, CRYAA, CRYBB1, MIP
25cataract, congenital9.7CRYBB3, NHS, MIP, MAF, CRYGD, CRYBB2

Graphical network of the top 20 diseases related to Cataract 4, Multiple Types:



Diseases related to cataract 4, multiple types

Symptoms for Cataract 4, Multiple Types

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

115660

Clinical features from OMIM:

115700, 115800, 115660, 601547, 610202, 614422, 615274, 116400, 601371, 604219 607304, 609376, 609741, 610019, 611544, 601885, 302200 more

Drugs & Therapeutics for Cataract 4, Multiple Types

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

Search CenterWatch for Cataract 4, Multiple Types

Drug clinical trials:

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Search NIH Clinical Center for Cataract 4, Multiple Types

Search CenterWatch for Cataract 4, Multiple Types

Genetic Tests for Cataract 4, Multiple Types

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Anatomical Context for Cataract 4, Multiple Types

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Sources:
34MalaCards
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MalaCards organs/tissues related to Cataract 4, Multiple Types:

34
Cortex, Eye

Animal Models for Cataract 4, Multiple Types or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Cataract 4, Multiple Types:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.5GJA3, CRYAA, CRYBB2, CRYGD, MAF, MIP

Publications for Cataract 4, Multiple Types

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Variations for Cataract 4, Multiple Types

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Cataract 4, Multiple Types:

65
id Symbol AA change Variation ID SNP ID
1CRYGDp.Arg15CysVAR_010733
2CRYGDp.Arg37SerVAR_010734
3CRYGDp.Arg59HisVAR_010735
4CRYGDp.Pro24ThrVAR_021145
5CRYGDp.Pro24SerVAR_034955rs28931605
6CRYGDp.Glu107AlaVAR_034956
7CRYGDp.Trp43ArgVAR_064829

Clinvar genetic disease variations for Cataract 4, Multiple Types:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_006891.3(CRYGD): c.43C> T (p.Arg15Cys)single nucleotide variantPathogenicrs121909595GRCh37Chr 2, 208989045: 208989045
2NM_006891.3(CRYGD): c.176G> A (p.Arg59His)single nucleotide variantPathogenicrs121909596GRCh37Chr 2, 208988912: 208988912
3NM_006891.3(CRYGD): c.109C> A (p.Arg37Ser)single nucleotide variantPathogenicrs121909597GRCh37Chr 2, 208988979: 208988979
4NM_006891.3(CRYGD): c.70C> A (p.Pro24Thr)single nucleotide variantPathogenicrs28931605GRCh37Chr 2, 208989018: 208989018
5NM_006891.3(CRYGD): c.470G> A (p.Trp157Ter)single nucleotide variantPathogenicrs121909598GRCh37Chr 2, 208986452: 208986452
6NM_006891.3(CRYGD): c.70C> T (p.Pro24Ser)single nucleotide variantPathogenicrs28931605GRCh37Chr 2, 208989018: 208989018
7NM_006891.3(CRYGD): c.402C> A (p.Tyr134Ter)single nucleotide variantPathogenicrs398122948GRCh37Chr 2, 208986520: 208986520

Expression for genes affiliated with Cataract 4, Multiple Types

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cataract 4, Multiple Types

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Pathways for genes affiliated with Cataract 4, Multiple Types

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Compounds for genes affiliated with Cataract 4, Multiple Types

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Sources:
46Novoseek
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Compounds related to Cataract 4, Multiple Types according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mp 26469.4GJA3, CRYAA, MIP

GO Terms for genes affiliated with Cataract 4, Multiple Types

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Sources:
17Gene Ontology
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Biological processes related to Cataract 4, Multiple Types according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to stimulusGO:0508969.6CRYBB2, MIP
2lens fiber cell differentiationGO:0703069.5CRYGD, MAF
3lens development in camera-type eyeGO:0020888.8NHS, MIP, CRYGD
4visual perceptionGO:0076017.6GJA3, MIP, WFS1, CRYGD, CRYBB3, CRYBB2

Molecular functions related to Cataract 4, Multiple Types according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:0052128.3CRYBB1, CRYAA, CRYBB2, CRYBB3, CRYGD, MIP

Products for genes affiliated with Cataract 4, Multiple Types

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cataract 4, Multiple Types

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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