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MCID: CTR185
MIFTS: 31

Cataract 30

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Cataract 30

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MalaCards integrated aliases for Cataract 30:

Name: Cataract 30 12 29 6 15 71
Cataract 30 Pulverulent 12
Cataract Coppock-Like 12
Cataract, Type 30 39
Dusty Cataract 12
Ctrct30 12

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110248
ICD10 32 Q12.0
UMLS 71 C3805411
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Summaries for Cataract 30

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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-AS1 (VIM Antisense RNA 1), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include eye.

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Related Diseases for Cataract 30

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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 21)
# Related Disease Score Top Affiliating Genes
1 cataract 30, multiple types 32.8 VIM-AS1 VIM
2 cataract 2, multiple types 11.7
3 bladder leiomyoma 10.2 VIM ROS1
4 erythroplakia 10.1 BMI1 ALDH1A1
5 testicular gonadoblastoma 10.0 VIM CTNNB1
6 chondromyxoid fibroma 10.0 VIM TGFB1
7 embryonal sarcoma 9.9 VIM CTNNB1
8 posterior urethral valves 9.9 TGFB1 AGTR1
9 osteochondroma 9.9 VIM FGFR1
10 polymorphous low-grade adenocarcinoma 9.9 VIM CTNNB1
11 fibromuscular dysplasia 9.9 TGFB1 AGTR1
12 pleomorphic adenoma 9.8 VIM PLAGL2 CTNNB1
13 osteofibrous dysplasia 9.7 VIM TGFB1
14 marfan syndrome 9.6 TGFB1 BMI1 AGTR1
15 tongue squamous cell carcinoma 9.5 MTDH CTNNB1 BMI1
16 fibrolamellar carcinoma 9.5 VIM MIR375 FGFR1 CTNNB1
17 ureteral obstruction 9.5 TGFB1 CTNNB1 AGTR1
18 renal hypodysplasia/aplasia 1 9.5 FGFR1 CTNNB1 AGTR1
19 renal fibrosis 9.4 TGFB1 CTNNB1 AGTR1
20 focal segmental glomerulosclerosis 9.4 VIM TGFB1 CTNNB1 AGTR1
21 lung squamous cell carcinoma 9.3 ROS1 MIR375 LINC01133 FGFR1 CTNNB1

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



Diseases related to Cataract 30
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Symptoms & Phenotypes for Cataract 30

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Drugs & Therapeutics for Cataract 30

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Search Clinical Trials , NIH Clinical Center for Cataract 30

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Genetic Tests for Cataract 30

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Genetic tests related to Cataract 30:

# Genetic test Affiliating Genes
1 Cataract 30 29 VIM
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Anatomical Context for Cataract 30

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MalaCards organs/tissues related to Cataract 30:

40
Eye
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Publications for Cataract 30

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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
Sources

Variations for Cataract 30

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ClinVar genetic disease variations for Cataract 30:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VIM-AS1 NM_003380.5(VIM):c.451G>A (p.Glu151Lys) SNV Pathogenic 12199 rs121917775 10:17271872-17271872 10:17229873-17229873
2 VIM-AS1 NM_003380.5(VIM):c.15del (p.Val6fs) Deletion Pathogenic 217338 rs864309690 10:17271435-17271435 10:17229436-17229436
3 VIM NM_003380.5(VIM):c.623A>G (p.Gln208Arg) SNV Uncertain significance 425575 rs1085307141 10:17272708-17272708 10:17230709-17230709
4 VIM-AS1 NM_003380.5(VIM):c.167C>A (p.Ser56Tyr) SNV Uncertain significance 541104 rs773938980 10:17271588-17271588 10:17229589-17229589
5 VIM NM_003380.5(VIM):c.1141C>T (p.Arg381Cys) SNV Uncertain significance 930366 10:17277300-17277300 10:17235301-17235301
6 VIM-AS1 NM_003380.5(VIM):c.468G>C (p.Glu156Asp) SNV Uncertain significance 949490 10:17271889-17271889 10:17229890-17229890
7 VIM NM_003380.5(VIM):c.758A>G (p.His253Arg) SNV Uncertain significance 959458 10:17275806-17275806 10:17233807-17233807
8 VIM NM_003380.5(VIM):c.1374_1375dup (p.Ser459fs) Duplication Uncertain significance 962651 10:17279242-17279243 10:17237243-17237244
9 VIM-AS1 NM_003380.5(VIM):c.542A>C (p.Asp181Ala) SNV Likely benign 772763 rs149942621 10:17271963-17271963 10:17229964-17229964
10 VIM NM_003380.5(VIM):c.987A>G (p.Glu329=) SNV Likely benign 702631 rs147429387 10:17276796-17276796 10:17234797-17234797
11 VIM-AS1 NM_003380.5(VIM):c.99G>T (p.Thr33=) SNV Benign 703473 rs531385322 10:17271520-17271520 10:17229521-17229521
12 VIM NM_003380.5(VIM):c.879C>G (p.Ser293=) SNV Benign 702034 rs11254467 10:17275927-17275927 10:17233928-17233928
13 VIM NM_003380.5(VIM):c.1009-10C>T SNV Benign 474043 rs79719081 10:17277158-17277158 10:17235159-17235159
14 VIM NM_003380.5(VIM):c.813C>T (p.Asp271=) SNV Benign 474044 rs4903 10:17275861-17275861 10:17233862-17233862
15 VIM-AS1 NM_003380.5(VIM):c.282C>T (p.Thr94=) SNV Benign 779851 rs144539901 10:17271703-17271703 10:17229704-17229704
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Expression for Cataract 30

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Search GEO for disease gene expression data for Cataract 30.
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Pathways for Cataract 30

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Pathways related to Cataract 30 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Mesodermal Commitment Pathway 1
Show member pathways
 12.04 TGFB1 MIR375 FGFR1 CTNNB1
2
Signaling pathways regulating pluripotency of stem cells 36
11.76 FGFR1 CTNNB1 BMI1
3
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.7 VIM TGFB1 BMI1
4
Spinal Cord Injury 1
11.58 VIM TGFB1 ROS1
5
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 11.3 TGFB1 MYD88 LY96
6
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.03 VIM FGFR1 BMI1
7
Primary Focal Segmental Glomerulosclerosis FSGS 1
10.67 VIM TGFB1 CTNNB1
8
TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition 1
10.62 VIM TGFB1
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GO Terms for Cataract 30

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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
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Sources for Cataract 30

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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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