MCID: CTR185
MIFTS: 20

Cataract 30

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cataract 30

MalaCards integrated aliases for Cataract 30:

Name: Cataract 30 12 30 6 15 74
Cataract 30 Pulverulent 12
Cataract Coppock-Like 12
Cataract, Type 30 41
Dusty Cataract 12
Ctrct30 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110248
ICD10 34 Q12.0
UMLS 74 C3805411

Summaries for Cataract 30

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13.

MalaCards based summary : Cataract 30, also known as cataract 30 pulverulent, is related to cataract 30, multiple types and cataract 2, multiple types. An important gene associated with Cataract 30 is VIM (Vimentin). Affiliated tissues include eye.

Related Diseases for Cataract 30

Symptoms & Phenotypes for Cataract 30

Drugs & Therapeutics for Cataract 30

Search Clinical Trials , NIH Clinical Center for Cataract 30

Genetic Tests for Cataract 30

Genetic tests related to Cataract 30:

# Genetic test Affiliating Genes
1 Cataract 30 30 VIM

Anatomical Context for Cataract 30

MalaCards organs/tissues related to Cataract 30:

42
Eye

Publications for Cataract 30

Articles related to Cataract 30:

# Title Authors Year
1
Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. ( 28450710 )
2017
2
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. ( 26694549 )
2016
3
Dominant cataract formation in association with a vimentin assembly disrupting mutation. ( 19126778 )
2009

Variations for Cataract 30

ClinVar genetic disease variations for Cataract 30:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 VIM NM_003380.3(VIM): c.451G> A (p.Glu151Lys) single nucleotide variant Pathogenic rs121917775 GRCh37 Chromosome 10, 17271872: 17271872
2 VIM NM_003380.3(VIM): c.451G> A (p.Glu151Lys) single nucleotide variant Pathogenic rs121917775 GRCh38 Chromosome 10, 17229873: 17229873
3 VIM NM_003380.3(VIM): c.15delC (p.Val6Cysfs) deletion Pathogenic/Likely pathogenic rs864309690 GRCh37 Chromosome 10, 17271436: 17271436
4 VIM NM_003380.3(VIM): c.15delC (p.Val6Cysfs) deletion Pathogenic/Likely pathogenic rs864309690 GRCh38 Chromosome 10, 17229437: 17229437
5 VIM NM_003380.4(VIM): c.623A> G (p.Gln208Arg) single nucleotide variant Uncertain significance rs1085307141 GRCh37 Chromosome 10, 17272708: 17272708
6 VIM NM_003380.4(VIM): c.623A> G (p.Gln208Arg) single nucleotide variant Uncertain significance rs1085307141 GRCh38 Chromosome 10, 17230709: 17230709
7 VIM NM_003380.4(VIM): c.1009-10C> T single nucleotide variant Benign rs79719081 GRCh37 Chromosome 10, 17277158: 17277158
8 VIM NM_003380.4(VIM): c.1009-10C> T single nucleotide variant Benign rs79719081 GRCh38 Chromosome 10, 17235159: 17235159
9 VIM NM_003380.4(VIM): c.813C> T (p.Asp271=) single nucleotide variant Benign rs4903 GRCh38 Chromosome 10, 17233862: 17233862
10 VIM NM_003380.4(VIM): c.813C> T (p.Asp271=) single nucleotide variant Benign rs4903 GRCh37 Chromosome 10, 17275861: 17275861
11 VIM NM_003380.4(VIM): c.167C> A (p.Ser56Tyr) single nucleotide variant Uncertain significance rs773938980 GRCh37 Chromosome 10, 17271588: 17271588
12 VIM NM_003380.4(VIM): c.167C> A (p.Ser56Tyr) single nucleotide variant Uncertain significance rs773938980 GRCh38 Chromosome 10, 17229589: 17229589

Expression for Cataract 30

Search GEO for disease gene expression data for Cataract 30.

Pathways for Cataract 30

GO Terms for Cataract 30

Sources for Cataract 30

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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