CTRCT14
MCID: CTR118
MIFTS: 35

Cataract 14, Multiple Types (CTRCT14)

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

Aliases & Classifications for Cataract 14, Multiple Types

MalaCards integrated aliases for Cataract 14, Multiple Types:

Name: Cataract 14, Multiple Types 57 74
Zonular Pulverulent Cataract 3 12 74 29 6
Ctrct14 57 12 74
Czp3 57 12 74
Cae3 57 12 74
Cataract, Zonular Pulverulent 3 57 72
Cataract 14 Multiple Types 12 15
Cataract, Zonular Pulverulent 3; Czp3 57
Cataract, Type 14, Multiple Types 40
Cataract, Zonular Pulverulent-3 13

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision


HPO:

32
cataract 14, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110253
MeSH 44 D002386
ICD10 33 Q12.0
MedGen 42 C1866078
UMLS 72 C1866078

Summaries for Cataract 14, Multiple Types

UniProtKB/Swiss-Prot : 74 Cataract 14, 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. CTRCT14 includes zonular pulverulent cataract, among others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.

MalaCards based summary : Cataract 14, Multiple Types, also known as zonular pulverulent cataract 3, is related to cataract and cataract 1, multiple types. An important gene associated with Cataract 14, Multiple Types is GJA3 (Gap Junction Protein Alpha 3), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include eye and cortex, and related phenotype is zonular cataract.

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12.

OMIM : 57 Mutations in the GJA3 gene have been found to cause multiple types of cataract, which have been described as zonular pulverulent, posterior polar, nuclear coralliform, embryonal nuclear, and Coppock-like. The preferred title/symbol for this entry was formerly 'Cataract, Zonular Pulverulent 3; CZP3.' (601885)

Related Diseases for Cataract 14, 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 14, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cataract 29.9 GJA8 GJA3
2 cataract 1, multiple types 29.2 GJA8 GJA3 GABRG2
3 rabies 10.2
4 echinococcosis 10.2
5 early-onset non-syndromic cataract 10.2
6 cataract 30, multiple types 9.7 GJA8 GJA3
7 early-onset nuclear cataract 9.7 GJA8 GJA3
8 adolescence-adult electroclinical syndrome 9.6 GJA8 GABRG2
9 lens disease 9.6 GJA8 GJA3
10 childhood electroclinical syndrome 9.5 GJA8 GABRG2
11 epilepsy, idiopathic generalized 10 9.4 GJA8 GABRG2
12 childhood absence epilepsy 9.2 GJA8 GABRG2

Graphical network of the top 20 diseases related to Cataract 14, Multiple Types:



Diseases related to Cataract 14, Multiple Types

Symptoms & Phenotypes for Cataract 14, Multiple Types

Human phenotypes related to Cataract 14, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 zonular cataract 32 HP:0010920

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract, zonular pulverulent
cataract, posterior polar
cataract, nuclear coralliform
cataract, embryonal nuclear
cataract, coppock-like

Clinical features from OMIM:

601885

Drugs & Therapeutics for Cataract 14, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 14, Multiple Types

Genetic Tests for Cataract 14, Multiple Types

Genetic tests related to Cataract 14, Multiple Types:

# Genetic test Affiliating Genes
1 Zonular Pulverulent Cataract 3 29 GJA3

Anatomical Context for Cataract 14, Multiple Types

MalaCards organs/tissues related to Cataract 14, Multiple Types:

41
Eye, Cortex

Publications for Cataract 14, Multiple Types

Articles related to Cataract 14, Multiple Types:

(show all 16)
# Title Authors PMID Year
1
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). 38 8 71
10746562 2000
2
Connexin46 mutations in autosomal dominant congenital cataract. 38 8 71
10205266 1999
3
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. 8 71
22312188 2012
4
A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family. 8 71
22876138 2012
5
A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract. 8 71
22550389 2012
6
A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family. 8 71
21681855 2011
7
A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. 8 71
15448617 2004
8
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. 8 71
15286166 2004
9
An aberrant sequence in a connexin46 mutant underlies congenital cataracts. 71
16204255 2005
10
The genetics of cataract: our vision becomes clearer. 8
9497271 1998
11
A new locus for dominant "zonular pulverulent" cataract, on chromosome 13. 8
9199569 1997
12
Enhanced contraception of canine zona pellucida 3 DNA vaccine via targeting DEC-205 in mice. 38
29455062 2018
13
The preclinical evaluation of immunocontraceptive vaccines based on canine zona pellucida 3 (cZP3) in a mouse model. 38
29751768 2018
14
[Pleurotus ferulae polysaccharide adjuvant enhances the immune infertility of CZP3DNA vaccine]. 38
28871937 2017
15
[Canine zona pellucida 3 (CZP3) DNA vaccination reduces mouse fertility effectively]. 38
27667457 2016
16
Cognitive impairment in encephalitis: P3 and MRI correlation. 38
19280797 2009

Variations for Cataract 14, Multiple Types

ClinVar genetic disease variations for Cataract 14, Multiple Types:

6 (show all 23)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GJA3 NM_021954.4(GJA3): c.188A> G (p.Asn63Ser) single nucleotide variant Pathogenic rs121917823 13:20717240-20717240 13:20143101-20143101
2 GJA3 GJA3, 1-BP INS, 1137C insertion Pathogenic
3 GJA3 NM_021954.4(GJA3): c.560C> T (p.Pro187Leu) single nucleotide variant Pathogenic rs121917825 13:20716868-20716868 13:20142729-20142729
4 GJA3 NM_021954.4(GJA3): c.227G> A (p.Arg76His) single nucleotide variant Pathogenic rs121917827 13:20717201-20717201 13:20143062-20143062
5 GJA3 NM_021954.4(GJA3): c.563A> C (p.Asn188Thr) single nucleotide variant Pathogenic rs140332366 13:20716865-20716865 13:20142726-20142726
6 GJA3 NM_021954.4(GJA3): c.5G> A (p.Gly2Asp) single nucleotide variant Pathogenic rs397514703 13:20717423-20717423 13:20143284-20143284
7 GJA3 NM_021954.4(GJA3): c.563A> T (p.Asn188Ile) single nucleotide variant Pathogenic rs140332366 13:20716865-20716865 13:20142726-20142726
8 GJA3 NM_021954.4(GJA3): c.616T> A (p.Phe206Ile) single nucleotide variant Pathogenic rs397514704 13:20716812-20716812 13:20142673-20142673
9 GJA3 NM_021954.4(GJA3): c.427G> A (p.Gly143Arg) single nucleotide variant Pathogenic rs398122937 13:20717001-20717001 13:20142862-20142862
10 GJA3 NM_021954.4(GJA3): c.176C> T (p.Pro59Leu) single nucleotide variant Pathogenic rs864309691 13:20717252-20717252 13:20143113-20143113
11 GJA3 NM_021954.4(GJA3): c.130G> A (p.Val44Met) single nucleotide variant Pathogenic 13:20717298-20717298 13:20143159-20143159
12 GJA3 NM_021954.4(GJA3): c.246C> G (p.Ile82Met) single nucleotide variant Uncertain significance 13:20717182-20717182 13:20143043-20143043
13 GJA3 NM_021954.4(GJA3): c.1217A> G (p.Gln406Arg) single nucleotide variant Uncertain significance 13:20716211-20716211 13:20142072-20142072
14 GJA3 NM_021954.4(GJA3): c.723C> A (p.Asp241Glu) single nucleotide variant Uncertain significance rs771424292 13:20716705-20716705 13:20142566-20142566
15 GJA3 NM_021954.4(GJA3): c.82G> A (p.Val28Met) single nucleotide variant Uncertain significance rs1555339539 13:20717346-20717346 13:20143207-20143207
16 GJA3 NM_021954.4(GJA3): c.19C> G (p.Leu7Val) single nucleotide variant Uncertain significance rs1555339543 13:20717409-20717409 13:20143270-20143270
17 GJA3 NM_021954.4(GJA3): c.443C> T (p.Thr148Ile) single nucleotide variant Uncertain significance rs1555339477 13:20716985-20716985 13:20142846-20142846
18 GJA3 NM_021954.4(GJA3): c.1013C> T (p.Pro338Leu) single nucleotide variant Uncertain significance rs766975987 13:20716415-20716415 13:20142276-20142276
19 GJA3 NM_021954.4(GJA3): c.139G> T (p.Asp47Tyr) single nucleotide variant Uncertain significance 13:20717289-20717289 13:20143150-20143150
20 GJA3 NC_000013.10: g.(?_20716100)_(20717447_?)dup duplication Uncertain significance 13:20716100-20717447 13:20141961-20143308
21 GJA3 NM_021954.4(GJA3): c.398G> A (p.Arg133Gln) single nucleotide variant Benign/Likely benign rs149933083 13:20717030-20717030 13:20142891-20142891
22 GJA3 NM_021954.4(GJA3): c.771C> A (p.Pro257=) single nucleotide variant Benign rs553789027 13:20716657-20716657 13:20142518-20142518
23 GJA3 NM_021954.4(GJA3): c.543C> T (p.Cys181=) single nucleotide variant Benign rs74607195 13:20716885-20716885 13:20142746-20142746

UniProtKB/Swiss-Prot genetic disease variations for Cataract 14, Multiple Types:

74 (show all 19)
# Symbol AA change Variation ID SNP ID
1 GJA3 p.Asn63Ser VAR_009158 rs121917823
2 GJA3 p.Pro187Leu VAR_023447 rs121917825
3 GJA3 p.Phe32Leu VAR_030021
4 GJA3 p.Pro59Leu VAR_030022 rs864309691
5 GJA3 p.Arg76His VAR_030023 rs121917827
6 GJA3 p.Trp45Ser VAR_038796
7 GJA3 p.Gly2Asp VAR_066710 rs397514703
8 GJA3 p.Asp3Tyr VAR_066711
9 GJA3 p.Val28Met VAR_066712 rs155533953
10 GJA3 p.Arg33Leu VAR_066713
11 GJA3 p.Val44Met VAR_066714
12 GJA3 p.Asp47Asn VAR_066715
13 GJA3 p.Arg76Gly VAR_066716
14 GJA3 p.Thr87Met VAR_066717 rs864309687
15 GJA3 p.Pro187Ser VAR_066718
16 GJA3 p.Asn188Thr VAR_066719 rs140332366
17 GJA3 p.Gly143Glu VAR_072762
18 GJA3 p.Asn188Ile VAR_072763 rs140332366
19 GJA3 p.Glu48Gly VAR_075211

Expression for Cataract 14, Multiple Types

Search GEO for disease gene expression data for Cataract 14, Multiple Types.

Pathways for Cataract 14, Multiple Types

Pathways related to Cataract 14, 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 14, Multiple Types

Cellular components related to Cataract 14, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.33 GJA8 GJA3 GABRG2
2 gap junction GO:0005921 8.96 GJA8 GJA3
3 connexin complex GO:0005922 8.62 GJA8 GJA3

Biological processes related to Cataract 14, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.13 SLC4A3 GJA8 GJA3
2 visual perception GO:0007601 8.85 GJA3
3 cell communication GO:0007154 8.62 GJA8 GJA3

Molecular functions related to Cataract 14, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.32 GJA8

Sources for Cataract 14, 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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