MCID: CTR103
MIFTS: 14

Cataract 4, Multiple Types malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Cataract 4, Multiple Types

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OMIM:45 Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as... (115700) more...

MalaCards based summary: Cataract 4, Multiple Types is related to cataract congenital dominant non nuclear, and has symptoms including autosomal dominant inheritanceand congenital cataract. An important gene associated with Cataract 4, Multiple Types is CRYGD (crystallin, gamma D).

Aliases & Classifications for Cataract 4, Multiple Types

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Cataract 4, Multiple Types, Aliases & Descriptions:

Name: Cataract 4, Multiple Types 45 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


External Ids:

OMIM45 115700

Related Diseases for Cataract 4, Multiple Types

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Symptoms for Cataract 4, Multiple Types

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Symptoms by clinical synopsis from OMIM:

115700

Clinical features from OMIM:

115700

HPO human phenotypes related to Cataract 4, Multiple Types:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 congenital cataract HP:0000519

Drugs & Therapeutics for Cataract 4, Multiple Types

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Drug clinical trials:

Search ClinicalTrials for Cataract 4, Multiple Types

Search NIH Clinical Center 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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Animal Models for Cataract 4, Multiple Types or affiliated genes

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Publications for Cataract 4, Multiple Types

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Variations for Cataract 4, Multiple Types

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UniProtKB/Swiss-Prot genetic disease variations for Cataract 4, Multiple Types:

62
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:

6
id Gene Variation 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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Search GEO for disease gene expression data for Cataract 4, Multiple Types.

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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GO Terms for genes affiliated with Cataract 4, Multiple Types

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Products for genes affiliated with Cataract 4, Multiple Types

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

Sources for Cataract 4, Multiple Types

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet