CTRCT30
MCID: CTR170
MIFTS: 37

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 58 76
Cataract, Pulverulent 13 74
Ctrct30 58 76
Cataract 30, Pulverulent 58
Pulverulent Cataract 30 76
Coppock-Like Cataract 60
Pulverulent Cataract 60
Dusty Cataract 60
Cataract 30 74

Characteristics:

Orphanet epidemiological data:

60
pulverulent cataract
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
congenital onset


HPO:

33
cataract 30, multiple types:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 116300
MeSH 45 D002386
ICD10 via Orphanet 35 Q12.0
UMLS via Orphanet 75 C1833118 C1852438
Orphanet 60 ORPHA98984
SNOMED-CT via HPO 70 263681008

Summaries for Cataract 30, Multiple Types

UniProtKB/Swiss-Prot : 76 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, pulverulent, 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 related phenotypes are posterior polar cataract and pulverulent cataract

OMIM : 58 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 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 21)
# Related Disease Score Top Affiliating Genes
1 cataract 14, multiple types 32.7 GJA8 GJA3
2 cataract 1, multiple types 32.5 GJA8 GJA3
3 cataract 28.5 MAF GJA8 GJA3 CRYGD CRYGC CRYBB2
4 cataract 2, multiple types 11.6
5 cataract 26, multiple types 11.4
6 cataract 21, multiple types 11.3
7 cataract 17, multiple types 11.3
8 cataract 30 11.1
9 cerebrotendinous xanthomatosis 10.1
10 xanthomatosis 10.1
11 microphthalmia 10.1
12 coloboma of iris 10.1
13 posterior polar cataract 9.9 GJA3 CRYGD
14 cataract 44 9.7 GJA8 CRYBB2
15 cataract 9, multiple types 9.6 GJA8 CRYBB2 CRYBB1
16 cerulean cataract 9.6 MAF CRYGD CRYBB2
17 cataract 25 9.5 GJA8 CRYBB2 BFSP2
18 cataract 16, multiple types 9.3 GJA3 CRYGD CRYGC BFSP2
19 lens disease 9.3 GJA8 GJA3 CRYGD CRYBB2
20 cataract microcornea syndrome 8.8 MAF GJA8 CRYGD CRYGC CRYBB2 CRYBB1
21 early-onset nuclear cataract 8.7 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:

33
# Description HPO Frequency HPO Source Accession
1 posterior polar cataract 33 HP:0001115
2 pulverulent cataract 33 HP:0010693
3 diffuse nuclear cataract 33 HP:0007657

Symptoms via clinical synopsis from OMIM:

58
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:

27
# 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:

47
# 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:

42
Eye

Publications for Cataract 30, Multiple Types

Articles related to Cataract 30, Multiple Types:

# Title Authors Year
1
A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family. ( 22876138 )
2012
2
Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. ( 10634616 )
2000
3
Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract. ( 8004095 )
1994

Variations for Cataract 30, Multiple Types

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

76
# Symbol AA change Variation ID SNP ID
1 VIM p.Glu151Lys VAR_070100 rs121917775

ClinVar genetic disease variations for Cataract 30, Multiple Types:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 VIM NM_003380.3(VIM): c.15delC (p.Val6Cysfs) deletion Pathogenic/Likely pathogenic rs864309690 GRCh37 Chromosome 10, 17271436: 17271436
2 VIM NM_003380.3(VIM): c.15delC (p.Val6Cysfs) deletion Pathogenic/Likely pathogenic rs864309690 GRCh38 Chromosome 10, 17229437: 17229437
3 VIM NM_003380.3(VIM): c.451G> A (p.Glu151Lys) single nucleotide variant Pathogenic rs121917775 GRCh37 Chromosome 10, 17271872: 17271872
4 VIM NM_003380.3(VIM): c.451G> A (p.Glu151Lys) single nucleotide variant Pathogenic rs121917775 GRCh38 Chromosome 10, 17229873: 17229873
5 VIM NM_003380.4(VIM): c.623A> G (p.Gln208Arg) single nucleotide variant Uncertain significance rs1085307141 GRCh37 Chromosome 10, 17272708: 17272708
6 VIM NM_003380.4(VIM): c.623A> G (p.Gln208Arg) single nucleotide variant Uncertain significance rs1085307141 GRCh38 Chromosome 10, 17230709: 17230709
7 VIM NM_003380.4(VIM): c.1009-10C> T single nucleotide variant Benign rs79719081 GRCh37 Chromosome 10, 17277158: 17277158
8 VIM NM_003380.4(VIM): c.1009-10C> T single nucleotide variant Benign rs79719081 GRCh38 Chromosome 10, 17235159: 17235159
9 VIM NM_003380.4(VIM): c.813C> T (p.Asp271=) single nucleotide variant Benign rs4903 GRCh38 Chromosome 10, 17233862: 17233862
10 VIM NM_003380.4(VIM): c.813C> T (p.Asp271=) single nucleotide variant Benign rs4903 GRCh37 Chromosome 10, 17275861: 17275861
11 VIM NM_003380.4(VIM): c.167C> A (p.Ser56Tyr) single nucleotide variant Uncertain significance rs773938980 GRCh37 Chromosome 10, 17271588: 17271588
12 VIM NM_003380.4(VIM): c.167C> A (p.Ser56Tyr) single nucleotide variant Uncertain significance rs773938980 GRCh38 Chromosome 10, 17229589: 17229589

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 GJA3 GJA8

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 GJA3 GJA8
2 connexin complex GO:0005922 8.62 GJA3 GJA8

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 CRYBB2 GJA8
2 cell communication GO:0007154 9.32 GJA3 GJA8
3 lens fiber cell differentiation GO:0070306 9.26 CRYGD MAF
4 visual perception GO:0007601 9.17 BFSP2 CRYBB1 CRYBB2 CRYGC CRYGD GJA3
5 lens fiber cell development GO:0070307 9.16 BFSP2 VIM
6 lens development in camera-type eye GO:0002088 9.13 CRYGD GJA8 MAF

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 BFSP2 VIM
2 structural constituent of eye lens GO:0005212 9.1 BFSP2 CRYBB1 CRYBB2 CRYGC CRYGD VIM
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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