CTRCT14
MCID: CTR118
MIFTS: 39

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 56 73
Zonular Pulverulent Cataract 3 12 73 29 6
Ctrct14 56 12 73
Czp3 56 12 73
Cae3 56 12 73
Cataract, Zonular Pulverulent 3 56 71
Cataract 14 Multiple Types 12 15
Cataract, Zonular Pulverulent 3; Czp3 56
Cataract, Type 14, Multiple Types 39
Cataract, Zonular Pulverulent-3 13

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
cataract 14, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110253
OMIM 56 601885
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
MedGen 41 C1866078
SNOMED-CT via HPO 68 263681008
UMLS 71 C1866078

Summaries for Cataract 14, Multiple Types

UniProtKB/Swiss-Prot : 73 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 1, multiple types and rabies. An important gene associated with Cataract 14, Multiple Types is GJA3 (Gap Junction Protein Alpha 3), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Bile secretion. Affiliated tissues include eye and cortex, and related phenotypes are zonular cataract and homeostasis/metabolism

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 : 56 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 24)
# Related Disease Score Top Affiliating Genes
1 cataract 1, multiple types 30.1 GJA8 GJA3 GABRG2
2 rabies 10.2
3 echinococcosis 10.2
4 cataract 10.2
5 early-onset non-syndromic cataract 10.2
6 cataract 30, multiple types 10.0 GJA8 GJA3
7 early-onset nuclear cataract 10.0 GJA8 GJA3
8 hereditary lymphedema ic 10.0 GJA8 GJA3
9 early onset absence epilepsy 10.0 GJA8 GABRG2
10 epilepsy with generalized tonic-clonic seizures 10.0 GJA8 GABRG2
11 juvenile absence epilepsy 10.0 GJA8 GABRG2
12 adolescence-adult electroclinical syndrome 9.9 GJA8 GABRG2
13 electroclinical syndrome 9.9 GJA8 GABRG2
14 oculodentodigital dysplasia 9.9 GJA8 GJA3
15 intestinal impaction 9.9 SLC4A5 SLC4A4
16 hereditary elliptocytosis 9.9 SLC4A3 SLC4A2 OSGEP
17 photosensitive epilepsy 9.9 GJA8 GABRG2
18 childhood electroclinical syndrome 9.8 GJA8 GABRG2
19 epilepsy, idiopathic generalized 9.8 SLC4A3 GJA8 GABRG2
20 suppurative cholangitis 9.7 SLC4A8 SLC4A4
21 erythrokeratodermia variabilis et progressiva 1 9.6 GJA8 GJA3
22 renal tubular acidosis 9.4 SLC4A4 SLC4A2 SLC26A1
23 renal tubular transport disease 9.4 SLC4A4 OSGEP
24 corneal dystrophy, band-shaped 9.3 SLC4A5 SLC4A4 SLC4A2 SLC4A10

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:

31
# Description HPO Frequency HPO Source Accession
1 zonular cataract 31 HP:0010920

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract, zonular pulverulent
cataract, posterior polar
cataract, nuclear coralliform
cataract, embryonal nuclear
cataract, coppock-like

Clinical features from OMIM:

601885

MGI Mouse Phenotypes related to Cataract 14, Multiple Types:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.28 GABRG2 GJA8 SLC26A1 SLC4A10 SLC4A2 SLC4A3

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:

40
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). 61 56 6
10746562 2000
2
Connexin46 mutations in autosomal dominant congenital cataract. 61 56 6
10205266 1999
3
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. 56 6
22312188 2012
4
A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family. 56 6
22876138 2012
5
A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract. 56 6
22550389 2012
6
A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family. 56 6
21681855 2011
7
A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. 56 6
15448617 2004
8
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. 56 6
15286166 2004
9
An aberrant sequence in a connexin46 mutant underlies congenital cataracts. 6
16204255 2005
10
The genetics of cataract: our vision becomes clearer. 56
9497271 1998
11
A new locus for dominant "zonular pulverulent" cataract, on chromosome 13. 56
9199569 1997
12
Enhanced contraception of canine zona pellucida 3 DNA vaccine via targeting DEC-205 in mice. 61
29455062 2018
13
The preclinical evaluation of immunocontraceptive vaccines based on canine zona pellucida 3 (cZP3) in a mouse model. 61
29751768 2018
14
[Pleurotus ferulae polysaccharide adjuvant enhances the immune infertility of CZP3DNA vaccine]. 61
28871937 2017
15
[Canine zona pellucida 3 (CZP3) DNA vaccination reduces mouse fertility effectively]. 61
27667457 2016
16
Cognitive impairment in encephalitis: P3 and MRI correlation. 61
19280797 2009

Variations for Cataract 14, Multiple Types

ClinVar genetic disease variations for Cataract 14, Multiple Types:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJA3 NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)SNV Pathogenic 217339 rs864309691 13:20717252-20717252 13:20143113-20143113
2 GJA3 NM_021954.4(GJA3):c.188A>G (p.Asn63Ser)SNV Pathogenic 16978 rs121917823 13:20717240-20717240 13:20143101-20143101
3 GJA3 NM_021954.4(GJA3):c.1137dup (p.Ser380fs)duplication Pathogenic 16979 13:20716290-20716291 13:20142151-20142152
4 GJA3 NM_021954.4(GJA3):c.560C>T (p.Pro187Leu)SNV Pathogenic 16980 rs121917825 13:20716868-20716868 13:20142729-20142729
5 GJA3 NM_021954.4(GJA3):c.227G>A (p.Arg76His)SNV Pathogenic 16981 rs121917827 13:20717201-20717201 13:20143062-20143062
6 GJA3 NM_021954.4(GJA3):c.563A>C (p.Asn188Thr)SNV Pathogenic 50941 rs140332366 13:20716865-20716865 13:20142726-20142726
7 GJA3 NM_021954.4(GJA3):c.5G>A (p.Gly2Asp)SNV Pathogenic 50942 rs397514703 13:20717423-20717423 13:20143284-20143284
8 GJA3 NM_021954.4(GJA3):c.563A>T (p.Asn188Ile)SNV Pathogenic 50943 rs140332366 13:20716865-20716865 13:20142726-20142726
9 GJA3 NM_021954.4(GJA3):c.616T>A (p.Phe206Ile)SNV Pathogenic 50944 rs397514704 13:20716812-20716812 13:20142673-20142673
10 GJA3 NM_021954.4(GJA3):c.427G>A (p.Gly143Arg)SNV Pathogenic 50945 rs398122937 13:20717001-20717001 13:20142862-20142862
11 GJA3 NM_021954.4(GJA3):c.130G>A (p.Val44Met)SNV Pathogenic 639312 13:20717298-20717298 13:20143159-20143159
12 GJA3 NM_021954.4(GJA3):c.1013C>T (p.Pro338Leu)SNV Uncertain significance 311337 rs766975987 13:20716415-20716415 13:20142276-20142276
13 GJA3 NM_021954.4(GJA3):c.723C>A (p.Asp241Glu)SNV Uncertain significance 468542 rs771424292 13:20716705-20716705 13:20142566-20142566
14 GJA3 NM_021954.4(GJA3):c.82G>A (p.Val28Met)SNV Uncertain significance 468544 rs1555339539 13:20717346-20717346 13:20143207-20143207
15 GJA3 NC_000013.10:g.(?_20716100)_(20717447_?)dupduplication Uncertain significance 468541 13:20716100-20717447 13:20141961-20143308
16 GJA3 NM_021954.4(GJA3):c.443C>T (p.Thr148Ile)SNV Uncertain significance 536414 rs1555339477 13:20716985-20716985 13:20142846-20142846
17 GJA3 NM_021954.4(GJA3):c.139G>T (p.Asp47Tyr)SNV Uncertain significance 568173 rs1566515377 13:20717289-20717289 13:20143150-20143150
18 GJA3 NM_021954.4(GJA3):c.1217A>G (p.Gln406Arg)SNV Uncertain significance 654528 13:20716211-20716211 13:20142072-20142072
19 GJA3 NM_021954.4(GJA3):c.246C>G (p.Ile82Met)SNV Uncertain significance 663670 13:20717182-20717182 13:20143043-20143043
20 GJA3 NM_021954.4(GJA3):c.543C>T (p.Cys181=)SNV Benign 261458 rs74607195 13:20716885-20716885 13:20142746-20142746

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

73 (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

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 membrane GO:0016020 10.17 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
2 integral component of membrane GO:0016021 10 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
3 integral component of plasma membrane GO:0005887 9.8 SLC4A4 SLC4A3 SLC26A1 GJA8 GJA3 GABRG2
4 cell GO:0005623 9.5 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
5 basolateral plasma membrane GO:0016323 9.46 SLC4A4 SLC4A2 SLC4A10 SLC26A1
6 gap junction GO:0005921 9.4 GJA8 GJA3
7 plasma membrane GO:0005886 9.4 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
8 connexin complex GO:0005922 9.37 GJA8 GJA3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.02 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
2 transmembrane transport GO:0055085 10.01 SLC4A9 SLC4A8 SLC4A4 SLC4A3 SLC4A2 SLC26A1
3 regulation of intracellular pH GO:0051453 9.87 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
4 inorganic anion transport GO:0015698 9.8 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
5 sodium ion transport GO:0006814 9.73 SLC4A8 SLC4A5 SLC4A4 SLC4A10
6 anion transport GO:0006820 9.7 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
7 chloride transport GO:0006821 9.65 SLC4A10 SLC26A1 GABRG2
8 anion transmembrane transport GO:0098656 9.56 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
9 cell communication GO:0007154 9.49 GJA8 GJA3
10 gap junction-mediated intercellular transport GO:1990349 9.46 GJA8 GJA3
11 bicarbonate transport GO:0015701 9.23 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2

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

# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.8 SLC4A9 SLC4A8 SLC4A3 SLC4A2 SLC4A10 SLC26A1
2 anion:anion antiporter activity GO:0015301 9.7 SLC4A9 SLC4A8 SLC4A5 SLC4A3 SLC4A2 SLC4A10
3 sodium:bicarbonate symporter activity GO:0008510 9.65 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A10
4 anion transmembrane transporter activity GO:0008509 9.5 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
5 inorganic anion exchanger activity GO:0005452 9.17 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2

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 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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