MCID: CTR185
MIFTS: 31

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 70
Cataract 30 Pulverulent 12
Cataract Coppock-Like 12
Cataract, Type 30 39
Dusty Cataract 12
Ctrct30 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110248
ICD10 32 Q12.0
UMLS 70 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), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include eye and lung.

Related Diseases for Cataract 30

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 40 Cataract 10, Multiple Types
Cataract 24 Cataract 3, Multiple Types
Cataract 14, Multiple Types Cataract 9, Multiple Types
Cataract 2, Multiple Types Cataract 31, Multiple Types
Cataract 25 Cataract 26, Multiple Types
Cataract 27 Cataract 28
Cataract 35 Cataract 22, Multiple Types
Cataract 18 Cataract 21, Multiple Types
Cataract 23, Multiple Types Cataract 11, Multiple Types
Cataract 33, Multiple Types Cataract 17, Multiple Types
Cataract 12, Multiple Types Cataract 47
Cataract 34, Multiple Types Cataract 16, Multiple Types
Cataract 36 Cataract 37
Cataract 38 Cataract 39, Multiple Types
Cataract 15, Multiple Types Cataract 19, Multiple Types
Cataract 43 Cataract 44
Cataract 45 Cataract 48
Cataract 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

Diseases related to Cataract 30 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 cataract 30, multiple types 32.7 VIM-AS1 VIM
2 cataract 2, multiple types 11.7
3 bladder leiomyoma 10.2 VIM ROS1
4 erythroplakia 10.1 BMI1 ALDH1A1
5 early-onset partial cataract 10.1 VIM-AS1 VIM
6 testicular gonadoblastoma 10.0 VIM CTNNB1
7 embryonal sarcoma 9.9 VIM CTNNB1
8 posterior urethral valves 9.9 TGFB1 AGTR1
9 polymorphous low-grade adenocarcinoma 9.9 VIM CTNNB1
10 fibromuscular dysplasia 9.8 TGFB1 AGTR1
11 pleomorphic adenoma 9.8 VIM PLAGL2 CTNNB1
12 chondromyxoid fibroma 9.7 VIM TGFB1
13 fibrolamellar carcinoma 9.5 VIM MIR375 FGFR1 CTNNB1
14 ureteral obstruction 9.5 TGFB1 CTNNB1 AGTR1
15 lung squamous cell carcinoma 9.5 ROS1 LINC01133 FGFR1 CTNNB1
16 renal fibrosis 9.4 TGFB1 CTNNB1 AGTR1
17 renal hypodysplasia/aplasia 1 9.4 FGFR1 CTNNB1 AGTR1
18 focal segmental glomerulosclerosis 9.4 VIM TGFB1 CTNNB1 AGTR1

Graphical network of the top 20 diseases related to Cataract 30:



Diseases related to 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:

40
Eye, Lung

Publications for Cataract 30

Articles related to Cataract 30:

(show all 17)
# Title Authors PMID Year
1
Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. 6
28450710 2017
2
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 6
26694549 2016
3
Dominant cataract formation in association with a vimentin assembly disrupting mutation. 6
19126778 2009
4
Four-year incidence and progression of visual impairment in a South Indian population with diabetes. 61
28724816 2017
5
The Impact of Vision Impairment (IVI) Questionnaire; Validation of the Thai-Version and the Implementation on Vision-Related Quality of Life in Thai Rural Community. 61
27191960 2016
6
The Sankara Nethralaya mobile teleophthalmology model for comprehensive eye care delivery in rural India. 61
22500741 2012
7
Transforming growth factor beta1, matrix-metalloproteinase-2 and its tissue inhibitor in patients with pseudoexfoliation glaucoma/syndrome. 61
22624408 2012
8
Stereotactic fractionated radiotherapy in the treatment of juxtapapillary choroidal melanoma: the McGill University experience. 61
21708428 2011
9
Early vitrectomy for vitreous hemorrhage associated with retinal tears. 61
20579632 2010
10
Role of fructose concentration on cataractogenesis in senile diabetic and non-diabetic patients. 61
19198870 2009
11
Changes in erythrocyte glucose-6-phosphate dehydrogenase (G6PD) and reduced glutathione (GSH) activities in the development of senile and diabetic cataracts. 61
19058613 2008
12
Antioxidant status in diabetic and non-diabetic senile patients, with cataract or cardiovascular complications. 61
18246223 2008
13
The Eger Macular Stressometer: pilot study. 61
12888055 2003
14
[Clinical significance of preoperative B-ultrasonography for traumatic cataract]. 61
11835842 1999
15
[Contrast on therapeutic results of intraocular lens implantation in diabetics and non-diabetics]. 61
11189343 1997
16
The prevalence of eye disease in Leicester: a comparison of adults of Asian and European descent. 61
8182680 1994
17
Causes of enucleation following cataract surgery. 61
301338 1977

Variations for Cataract 30

ClinVar genetic disease variations for Cataract 30:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VIM-AS1 , VIM NM_003380.5(VIM):c.451G>A (p.Glu151Lys) SNV Pathogenic 12199 rs121917775 GRCh37: 10:17271872-17271872
GRCh38: 10:17229873-17229873
2 VIM-AS1 , VIM NM_003380.5(VIM):c.15del (p.Val6fs) Deletion Pathogenic 217338 rs864309690 GRCh37: 10:17271435-17271435
GRCh38: 10:17229436-17229436
3 VIM NM_003380.5(VIM):c.623A>G (p.Gln208Arg) SNV Uncertain significance 425575 rs1085307141 GRCh37: 10:17272708-17272708
GRCh38: 10:17230709-17230709
4 VIM-AS1 , VIM NM_003380.5(VIM):c.167C>A (p.Ser56Tyr) SNV Uncertain significance 541104 rs773938980 GRCh37: 10:17271588-17271588
GRCh38: 10:17229589-17229589
5 VIM NM_003380.5(VIM):c.1141C>T (p.Arg381Cys) SNV Uncertain significance 930366 GRCh37: 10:17277300-17277300
GRCh38: 10:17235301-17235301
6 VIM-AS1 , VIM NM_003380.5(VIM):c.468G>C (p.Glu156Asp) SNV Uncertain significance 949490 GRCh37: 10:17271889-17271889
GRCh38: 10:17229890-17229890
7 VIM NM_003380.5(VIM):c.758A>G (p.His253Arg) SNV Uncertain significance 959458 GRCh37: 10:17275806-17275806
GRCh38: 10:17233807-17233807
8 VIM NM_003380.5(VIM):c.1374_1375dup (p.Ser459fs) Duplication Uncertain significance 962651 GRCh37: 10:17279242-17279243
GRCh38: 10:17237243-17237244
9 VIM NM_003380.5(VIM):c.911G>A (p.Arg304Gln) SNV Uncertain significance 1051392 GRCh37: 10:17276720-17276720
GRCh38: 10:17234721-17234721
10 VIM-AS1 , VIM NM_003380.5(VIM):c.542A>C (p.Asp181Ala) SNV Likely benign 772763 rs149942621 GRCh37: 10:17271963-17271963
GRCh38: 10:17229964-17229964
11 VIM NM_003380.5(VIM):c.987A>G (p.Glu329=) SNV Likely benign 702631 rs147429387 GRCh37: 10:17276796-17276796
GRCh38: 10:17234797-17234797
12 VIM-AS1 , VIM NM_003380.5(VIM):c.99G>T (p.Thr33=) SNV Benign 703473 rs531385322 GRCh37: 10:17271520-17271520
GRCh38: 10:17229521-17229521
13 VIM NM_003380.5(VIM):c.879C>G (p.Ser293=) SNV Benign 702034 rs11254467 GRCh37: 10:17275927-17275927
GRCh38: 10:17233928-17233928
14 VIM NM_003380.5(VIM):c.1009-10C>T SNV Benign 474043 rs79719081 GRCh37: 10:17277158-17277158
GRCh38: 10:17235159-17235159
15 VIM NM_003380.5(VIM):c.813C>T (p.Asp271=) SNV Benign 474044 rs4903 GRCh37: 10:17275861-17275861
GRCh38: 10:17233862-17233862
16 VIM-AS1 , VIM NM_003380.5(VIM):c.282C>T (p.Thr94=) SNV Benign 779851 rs144539901 GRCh37: 10:17271703-17271703
GRCh38: 10:17229704-17229704

Expression for Cataract 30

Search GEO for disease gene expression data for Cataract 30.

Pathways for Cataract 30

GO Terms for Cataract 30

Biological processes related to Cataract 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.71 TGFB1 MYD88 CTNNB1 BMI1
2 negative regulation of gene expression GO:0010629 9.56 TGFB1 SRSF6 ROS1 CTNNB1
3 regulation of cell proliferation GO:0042127 9.46 TGFB1 MYD88 CTNNB1 AGTR1
4 positive regulation of interleukin-17 production GO:0032740 9.37 TGFB1 MYD88
5 positive regulation of cellular protein metabolic process GO:0032270 9.32 TGFB1 AGTR1
6 epithelial to mesenchymal transition GO:0001837 9.13 TGFB1 FGFR1 CTNNB1
7 lipopolysaccharide-mediated signaling pathway GO:0031663 8.92 TGFB1 MYD88 MTDH LY96

Sources for Cataract 30

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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