CTRCT30
MCID: CTR170
MIFTS: 35

Cataract 30, Multiple Types (CTRCT30)

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

Aliases & Classifications for Cataract 30, Multiple Types

MalaCards integrated aliases for Cataract 30, Multiple Types:

Name: Cataract 30, Multiple Types 57 74
Ctrct30 57 74
Cataract 30, Pulverulent 57
Pulverulent Cataract 30 74
Coppock-Like Cataract 59
Cataract, Pulverulent 72
Pulverulent Cataract 59
Dusty Cataract 59
Cataract 30 72

Characteristics:

Orphanet epidemiological data:

59
pulverulent cataract
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
congenital onset

Inheritance:
autosomal dominant


HPO:

32
cataract 30, multiple types:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

MeSH 44 D002386
ICD10 via Orphanet 34 Q12.0
UMLS via Orphanet 73 C1833118 C1852438
Orphanet 59 ORPHA98984
UMLS 72 C1833118 C3805411

Summaries for Cataract 30, Multiple Types

UniProtKB/Swiss-Prot : 74 Cataract 30, multiple types: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

MalaCards based summary : Cataract 30, Multiple Types, also known as ctrct30, is related to cataract 14, multiple types and cataract 1, multiple types. An important gene associated with Cataract 30, Multiple Types is VIM (Vimentin), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include eye and lung, and related phenotypes are posterior polar cataract and pulverulent cataract

OMIM : 57 Mutations in the VIM gene have been found to cause multiple types of cataract, which have been described as congenital, pulverulent, and posterior polar. (116300)

Related Diseases for Cataract 30, Multiple Types

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 46, Juvenile-Onset 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, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 cataract 14, multiple types 32.1 GJA8 GJA3
2 cataract 1, multiple types 31.8 GJA8 GJA3
3 cerulean cataract 29.5 MAF CRYGD CRYBB2
4 cataract microcornea syndrome 27.8 MAF GJA8 CRYGD CRYGC CRYBB2 CRYBB1
5 cataract 27.0 MAF GJA8 GJA3 CRYGD CRYGC CRYBB2
6 obsolete: coppock-like cataract 12.6
7 cataract 2, multiple types 11.7
8 cataract 26, multiple types 11.5
9 cataract 21, multiple types 11.5
10 cataract 17, multiple types 11.5
11 cataract 30 11.3
12 early-onset non-syndromic cataract 10.4
13 cataract 3, multiple types 10.3
14 coloboma of macula 10.2
15 melanoma, uveal 10.2
16 strabismus 10.2
17 cerebrotendinous xanthomatosis 10.2
18 yemenite deaf-blind hypopigmentation syndrome 10.2
19 xanthomatosis 10.2
20 suppression amblyopia 10.2
21 amblyopia 10.2
22 microphthalmia 10.2
23 constipation 10.2
24 mechanical strabismus 10.2
25 refractive error 10.2
26 microcephaly 10.2
27 coloboma of iris 10.2
28 posterior polar cataract 9.7 GJA3 CRYGD
29 cataract 44 9.6 GJA8 CRYBB2
30 cataract 25 9.4 GJA8 CRYBB2 BFSP2
31 cataract 9, multiple types 9.3 GJA8 CRYBB2 CRYBB1
32 cataract 16, multiple types 9.1 GJA3 CRYGD CRYGC BFSP2
33 lens disease 8.7 GJA8 GJA3 CRYGD CRYBB2
34 early-onset nuclear cataract 8.0 GJA8 GJA3 CRYGD CRYGC CRYBB2 CRYBB1

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



Diseases related to Cataract 30, Multiple Types

Symptoms & Phenotypes for Cataract 30, Multiple Types

Human phenotypes related to Cataract 30, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 posterior polar cataract 32 HP:0001115
2 pulverulent cataract 32 HP:0010693
3 diffuse nuclear cataract 32 HP:0007657

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
posterior polar cataract
pulverulent cataract

Clinical features from OMIM:

116300

GenomeRNAi Phenotypes related to Cataract 30, Multiple Types according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell number in S GR00096-A 8.92 CRYBB1 GJA3 GJA8 MAF

MGI Mouse Phenotypes related to Cataract 30, Multiple Types:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.23 BFSP2 CRYBB2 CRYGC CRYGD GJA3 GJA8

Drugs & Therapeutics for Cataract 30, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 30, Multiple Types

Genetic Tests for Cataract 30, Multiple Types

Anatomical Context for Cataract 30, Multiple Types

MalaCards organs/tissues related to Cataract 30, Multiple Types:

41
Eye, Lung

Publications for Cataract 30, Multiple Types

Articles related to Cataract 30, Multiple Types:

# 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. 8 71
28450710 2017
2
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 8 71
26694549 2016
3
Dominant cataract formation in association with a vimentin assembly disrupting mutation. 8 71
19126778 2009
4
Prognostic Values of Vimentin Expression and Its Clinicopathological Significance in Non-Small Cell Lung Cancer: A Meta-Analysis of Observational Studies with 4118 Cases. 38
27657690 2016

Variations for Cataract 30, Multiple Types

ClinVar genetic disease variations for Cataract 30, Multiple Types:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VIM NM_003380.5(VIM): c.451G> A (p.Glu151Lys) single nucleotide variant Pathogenic rs121917775 10:17271872-17271872 10:17229873-17229873
2 VIM NM_003380.5(VIM): c.15del (p.Val6fs) deletion Pathogenic/Likely pathogenic rs864309690 10:17271436-17271436 10:17229437-17229437
3 VIM NM_003380.5(VIM): c.623A> G (p.Gln208Arg) single nucleotide variant Uncertain significance rs1085307141 10:17272708-17272708 10:17230709-17230709
4 VIM NM_003380.5(VIM): c.167C> A (p.Ser56Tyr) single nucleotide variant Uncertain significance rs773938980 10:17271588-17271588 10:17229589-17229589
5 VIM NM_003380.5(VIM): c.1009-10C> T single nucleotide variant Benign rs79719081 10:17277158-17277158 10:17235159-17235159
6 VIM NM_003380.5(VIM): c.813C> T (p.Asp271=) single nucleotide variant Benign rs4903 10:17275861-17275861 10:17233862-17233862

UniProtKB/Swiss-Prot genetic disease variations for Cataract 30, Multiple Types:

74
# Symbol AA change Variation ID SNP ID
1 VIM p.Glu151Lys VAR_070100 rs121917775

Expression for Cataract 30, Multiple Types

Search GEO for disease gene expression data for Cataract 30, Multiple Types.

Pathways for Cataract 30, Multiple Types

Pathways related to Cataract 30, Multiple Types according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.61 GJA8 GJA3

GO Terms for Cataract 30, Multiple Types

Cellular components related to Cataract 30, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.96 GJA8 GJA3
2 connexin complex GO:0005922 8.62 GJA8 GJA3

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

# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 9.37 GJA8 CRYBB2
2 cell communication GO:0007154 9.32 GJA8 GJA3
3 lens fiber cell differentiation GO:0070306 9.26 MAF CRYGD
4 lens fiber cell development GO:0070307 9.16 VIM BFSP2
5 lens development in camera-type eye GO:0002088 9.13 MAF GJA8 CRYGD
6 visual perception GO:0007601 9.1 GJA3 CRYGD CRYGC CRYBB2 CRYBB1 BFSP2

Molecular functions related to Cataract 30, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.16 VIM BFSP2
2 structural constituent of eye lens GO:0005212 9.1 VIM CRYGD CRYGC CRYBB2 CRYBB1 BFSP2
3 gap junction channel activity GO:0005243 8.65 GJA8

Sources for Cataract 30, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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