MCID: CTR185
MIFTS: 18

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 29 6 15 73
Cataract 30 Pulverulent 12
Cataract Coppock-Like 12
Cataract, Type 30 40
Dusty Cataract 12
Ctrct30 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110248
ICD10 33 Q12.0
UMLS 73 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 29 VIM

Anatomical Context for Cataract 30

MalaCards organs/tissues related to Cataract 30:

41
Eye

Publications for Cataract 30

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 GRCh38 Chromosome 10, 17235159: 17235159
8 VIM NM_003380.4(VIM): c.1009-10C> T single nucleotide variant Benign rs79719081 GRCh37 Chromosome 10, 17277158: 17277158
9 VIM NM_003380.4(VIM): c.813C> T (p.Asp271=) single nucleotide variant Benign rs4903 GRCh37 Chromosome 10, 17275861: 17275861
10 VIM NM_003380.4(VIM): c.813C> T (p.Asp271=) single nucleotide variant Benign rs4903 GRCh38 Chromosome 10, 17233862: 17233862
11 VIM NM_003380.4(VIM): c.167C> A (p.Ser56Tyr) single nucleotide variant Uncertain significance rs773938980 GRCh38 Chromosome 10, 17229589: 17229589
12 VIM NM_003380.4(VIM): c.167C> A (p.Ser56Tyr) single nucleotide variant Uncertain significance rs773938980 GRCh37 Chromosome 10, 17271588: 17271588

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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