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 73
Cataract 30, Pulverulent 57 6
Ctrct30 57 73
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®:

57 (Updated 05-Mar-2021)
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® 57 116300
OMIM Phenotypic Series 57 PS116200
MeSH 44 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 cataract 30, pulverulent, is related to cataract 14, multiple types and cataract 30. An important gene associated with Cataract 30, Multiple Types is VIM (Vimentin). 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) (Updated 05-Mar-2021)

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:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 cataract 14, multiple types 31.9 GJA8 GJA3
2 cataract 30 31.8 VIM-AS1 VIM
3 cataract 1, multiple types 31.6 GJA8 GJA3
4 cerulean cataract 29.6 MAF CRYGD CRYBB2
5 early-onset non-syndromic cataract 29.2 VIM-AS1 MAF GJA3 CRYGC CRYBB1
6 cataract microcornea syndrome 28.7 MAF GJA8 CRYGD CRYGC CRYBB2 CRYBB1
7 amblyopia 28.7 GJA8 GJA3 CRYGD CRYBB1 BFSP2
8 cataract 28.3 VIM MAF GJA8 GJA3 CRYGD CRYGC
9 cataract 2, multiple types 11.2
10 cataract 3, multiple types 10.1
11 coloboma of macula 10.0
12 melanoma, uveal 10.0
13 strabismus 10.0
14 yemenite deaf-blind hypopigmentation syndrome 10.0
15 suppression amblyopia 10.0
16 mechanical strabismus 10.0
17 refractive error 10.0
18 coloboma of iris 10.0
19 presbyopia 10.0 CRYGD BFSP2
20 eye accommodation disease 9.9 CRYGD BFSP2
21 nuclear senile cataract 9.8 CRYGD CRYGC
22 early-onset lamellar cataract 9.8 CRYGD CRYGC BFSP2
23 abruzzo-erickson syndrome 9.7 GJA3 CRYBB2 CRYBB1
24 immature cataract 9.7 GJA8 GJA3
25 posterior polar cataract 9.7 GJA3 CRYGD BFSP2
26 early-onset sutural cataract 9.7 GJA8 CRYBB2 BFSP2
27 cataract 9, multiple types 9.7 GJA8 CRYBB2 CRYBB1
28 cataract 44 9.6 GJA8 CRYBB2
29 mature cataract 9.6 GJA8 CRYGD CRYBB2
30 erythrokeratodermia variabilis et progressiva 1 9.5 GJA8 GJA3 CRYBB2
31 oculodentodigital dysplasia 9.4 GJA8 GJA3
32 anterior segment dysgenesis 9.4 MAF GJA8 CRYBB1 BFSP2
33 nance-horan syndrome 9.2 GJA8 CRYGD CRYBB2 CRYBB1 BFSP2
34 axenfeld-rieger syndrome, type 3 9.2 MAF GJA8 CRYBB2 CRYBB1 BFSP2
35 aniridia 1 8.9 MAF GJA8 CRYGD CRYBB2 CRYBB1 BFSP2
36 lens disease 8.9 GJA8 GJA3 CRYGD CRYBB2 CRYBB1 BFSP2
37 early-onset nuclear cataract 8.8 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
# 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®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
posterior polar cataract
pulverulent cataract

Clinical features from OMIM®:

116300 (Updated 05-Mar-2021)

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

26
# 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:

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:

40
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. 6 57
28450710 2017
2
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 6 57
26694549 2016
3
Dominant cataract formation in association with a vimentin assembly disrupting mutation. 6 57
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 (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-AS1 NM_003380.5(VIM):c.167C>A (p.Ser56Tyr) SNV Uncertain significance 541104 rs773938980 10:17271588-17271588 10:17229589-17229589
4 VIM NM_003380.5(VIM):c.623A>G (p.Gln208Arg) SNV Uncertain significance 425575 rs1085307141 10:17272708-17272708 10:17230709-17230709
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 NM_003380.5(VIM):c.987A>G (p.Glu329=) SNV Likely benign 702631 rs147429387 10:17276796-17276796 10:17234797-17234797
10 VIM-AS1 NM_003380.5(VIM):c.542A>C (p.Asp181Ala) SNV Likely benign 772763 rs149942621 10:17271963-17271963 10:17229964-17229964
11 VIM-AS1 NM_003380.5(VIM):c.282C>T (p.Thr94=) SNV Benign 779851 rs144539901 10:17271703-17271703 10:17229704-17229704
12 VIM-AS1 NM_003380.5(VIM):c.99G>T (p.Thr33=) SNV Benign 703473 rs531385322 10:17271520-17271520 10:17229521-17229521
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 NM_003380.5(VIM):c.879C>G (p.Ser293=) SNV Benign 702034 rs11254467 10:17275927-17275927 10:17233928-17233928

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

73
# 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

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 9.43 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:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.1 VIM CRYGD CRYGC CRYBB2 CRYBB1 BFSP2
2 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
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
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