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 56 73
Ctrct30 56 73
Cataract 30, Pulverulent 56
Pulverulent Cataract 30 73
Coppock-Like Cataract 58
Cataract, Pulverulent 71
Pulverulent Cataract 58
Dusty Cataract 58
Cataract 30 71

Characteristics:

Orphanet epidemiological data:

58
pulverulent cataract
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Miscellaneous:
congenital onset

Inheritance:
autosomal dominant


HPO:

31
cataract 30, multiple types:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 116300
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 via Orphanet 33 Q12.0
UMLS via Orphanet 72 C1833118 C1852438
Orphanet 58 ORPHA98984
SNOMED-CT via HPO 68 263681008
UMLS 71 C1833118 C3805411

Summaries for Cataract 30, Multiple Types

UniProtKB/Swiss-Prot : 73 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 : 56 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 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:

(showing 40, show less)
# Related Disease Score Top Affiliating Genes
1 cataract 14, multiple types 32.7 GJA8 GJA3
2 cataract 1, multiple types 32.2 GJA8 GJA3
3 cerulean cataract 29.6 MAF CRYGD CRYBB2
4 amblyopia 29.3 GJA3 CRYBB2 CRYBB1 BFSP2
5 cataract microcornea syndrome 28.3 MAF GJA8 CRYGD CRYGC CRYBB2 CRYBB1
6 cataract 27.4 VIM MAF GJA8 GJA3 CRYGD CRYGC
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 microphthalmia 10.2
22 microcephaly 10.2
23 constipation 10.2
24 mechanical strabismus 10.2
25 refractive error 10.2
26 coloboma of iris 10.2
27 mature cataract 9.9 CRYGD CRYBB2
28 nance-horan syndrome 9.8 CRYBB2 CRYBB1 BFSP2
29 axenfeld-rieger syndrome, type 3 9.7 MAF BFSP2
30 early-onset lamellar cataract 9.7 CRYGD CRYGC BFSP2
31 cataract 44 9.6 GJA8 CRYBB2
32 aniridia 1 9.6 MAF CRYBB1
33 posterior polar cataract 9.5 GJA3 CRYGD BFSP2
34 hereditary lymphedema ic 9.5 GJA8 GJA3
35 early-onset sutural cataract 9.5 GJA8 CRYBB2 BFSP2
36 cataract 9, multiple types 9.5 GJA8 CRYBB2 CRYBB1
37 oculodentodigital dysplasia 9.4 GJA8 GJA3
38 erythrokeratodermia variabilis et progressiva 1 9.2 GJA8 GJA3 CRYBB2
39 lens disease 8.4 GJA8 GJA3 CRYGD CRYBB2 CRYBB1 BFSP2
40 early-onset nuclear cataract 8.3 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:

31 (showing 3, show less)
# Description HPO Frequency HPO Source Accession
1 posterior polar cataract 31 HP:0001115
2 pulverulent cataract 31 HP:0010693
3 diffuse nuclear cataract 31 HP:0007657

Symptoms via clinical synopsis from OMIM:

56
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 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased nuclei size in G2M GR00096-A 8.32 CRYBB1

MGI Mouse Phenotypes related to Cataract 30, Multiple Types:

45 (showing 1, show less)
# 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:

40
Eye, Lung

Publications for Cataract 30, Multiple Types

Articles related to Cataract 30, Multiple Types:

(showing 4, show less)
# 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. 56 6
28450710 2017
2
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 56 6
26694549 2016
3
Dominant cataract formation in association with a vimentin assembly disrupting mutation. 6 56
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. 61
27657690 2016

Variations for Cataract 30, Multiple Types

ClinVar genetic disease variations for Cataract 30, Multiple Types:

6 (showing 11, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VIM NM_003380.5(VIM):c.451G>A (p.Glu151Lys)SNV Pathogenic 12199 rs121917775 10:17271872-17271872 10:17229873-17229873
2 VIM NM_003380.5(VIM):c.15del (p.Val6fs)deletion Pathogenic/Likely 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 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.987A>G (p.Glu329=)SNV Likely benign 702631 10:17276796-17276796 10:17234797-17234797
6 VIM NM_003380.5(VIM):c.542A>C (p.Asp181Ala)SNV Likely benign 772763 10:17271963-17271963 10:17229964-17229964
7 VIM NM_003380.5(VIM):c.282C>T (p.Thr94=)SNV Benign 779851 10:17271703-17271703 10:17229704-17229704
8 VIM NM_003380.5(VIM):c.813C>T (p.Asp271=)SNV Benign 474044 rs4903 10:17275861-17275861 10:17233862-17233862
9 VIM NM_003380.5(VIM):c.879C>G (p.Ser293=)SNV Benign 702034 10:17275927-17275927 10:17233928-17233928
10 VIM NM_003380.5(VIM):c.99G>T (p.Thr33=)SNV Benign 703473 10:17271520-17271520 10:17229521-17229521
11 VIM NM_003380.5(VIM):c.1009-10C>TSNV Benign 474043 rs79719081 10:17277158-17277158 10:17235159-17235159

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

73 (showing 1, show less)
# 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:

(showing 1, show less)
# 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:

(showing 2, show less)
# 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:

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 9.43 GJA8 CRYBB2
2 visual perception GO:0007601 9.43 GJA3 CRYGD CRYGC CRYBB2 CRYBB1 BFSP2
3 cell communication GO:0007154 9.4 GJA8 GJA3
4 intermediate filament organization GO:0045109 9.37 VIM BFSP2
5 lens fiber cell differentiation GO:0070306 9.32 MAF CRYGD
6 lens fiber cell development GO:0070307 9.26 VIM BFSP2
7 gap junction-mediated intercellular transport GO:1990349 9.16 GJA8 GJA3
8 lens development in camera-type eye GO:0002088 9.1 MAF GJA8 CRYGD CRYGC CRYBB2 CRYBB1

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

(showing 3, show less)
# 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 8.96 GJA8 GJA3

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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