CTRCT14
MCID: CTR118
MIFTS: 33

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 58 76
Zonular Pulverulent Cataract 3 12 76 30 6
Ctrct14 58 12 76
Czp3 58 12 76
Cae3 58 12 76
Cataract, Zonular Pulverulent 3 58 74
Cataract 14 Multiple Types 12 15
Cataract, Zonular Pulverulent 3; Czp3 58
Cataract, Type 14, Multiple Types ) 41
Cataract, Zonular Pulverulent-3 13

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cataract 14, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110253
OMIM 58 601885
MeSH 45 D002386
ICD10 34 Q12.0
MedGen 43 C1866078
SNOMED-CT via HPO 70 263681008
UMLS 74 C1866078

Summaries for Cataract 14, Multiple Types

UniProtKB/Swiss-Prot : 76 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 30, 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, cortex and brain, 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 : 58 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 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:

# Related Disease Score Top Affiliating Genes
1 cataract 9.9 GJA3 GJA8
2 cataract 30, multiple types 9.8 GJA3 GJA8
3 early-onset nuclear cataract 9.8 GJA3 GJA8
4 adolescence-adult electroclinical syndrome 9.7 GABRG2 GJA8
5 lens disease 9.7 GJA3 GJA8
6 childhood electroclinical syndrome 9.7 GABRG2 GJA8
7 epilepsy, idiopathic generalized 10 9.6 GABRG2 GJA8
8 cataract 1, multiple types 9.5 GABRG2 GJA3 GJA8
9 childhood absence epilepsy 9.5 GABRG2 GJA8

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:

33
# Description HPO Frequency HPO Source Accession
1 zonular cataract 33 HP:0010920

Symptoms via clinical synopsis from OMIM:

58
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 High Dose Icotinib With Sequential SRS For NSCLC Patients Harboring EGFR Mutation With Brain Metastases Recruiting NCT02726568 Phase 2 Icotinib

Search 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 30 GJA3

Anatomical Context for Cataract 14, Multiple Types

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

42
Eye, Cortex, Brain

Publications for Cataract 14, Multiple Types

Variations for Cataract 14, Multiple Types

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

76 (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
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

ClinVar genetic disease variations for Cataract 14, Multiple Types:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA3 NM_021954.3(GJA3): c.176C> T (p.Pro59Leu) single nucleotide variant Pathogenic rs864309691 GRCh37 Chromosome 13, 20717252: 20717252
2 GJA3 NM_021954.3(GJA3): c.176C> T (p.Pro59Leu) single nucleotide variant Pathogenic rs864309691 GRCh38 Chromosome 13, 20143113: 20143113
3 GJA3 GJA3, 1-BP INS, 1137C insertion Pathogenic
4 GJA3 NM_021954.3(GJA3): c.188A> G (p.Asn63Ser) single nucleotide variant Pathogenic rs121917823 GRCh37 Chromosome 13, 20717240: 20717240
5 GJA3 NM_021954.3(GJA3): c.188A> G (p.Asn63Ser) single nucleotide variant Pathogenic rs121917823 GRCh38 Chromosome 13, 20143101: 20143101
6 GJA3 NM_021954.3(GJA3): c.560C> T (p.Pro187Leu) single nucleotide variant Pathogenic rs121917825 GRCh37 Chromosome 13, 20716868: 20716868
7 GJA3 NM_021954.3(GJA3): c.560C> T (p.Pro187Leu) single nucleotide variant Pathogenic rs121917825 GRCh38 Chromosome 13, 20142729: 20142729
8 GJA3 NM_021954.3(GJA3): c.227G> A (p.Arg76His) single nucleotide variant Pathogenic rs121917827 GRCh37 Chromosome 13, 20717201: 20717201
9 GJA3 NM_021954.3(GJA3): c.227G> A (p.Arg76His) single nucleotide variant Pathogenic rs121917827 GRCh38 Chromosome 13, 20143062: 20143062
10 GJA3 NM_021954.3(GJA3): c.563A> C (p.Asn188Thr) single nucleotide variant Pathogenic rs140332366 GRCh37 Chromosome 13, 20716865: 20716865
11 GJA3 NM_021954.3(GJA3): c.563A> C (p.Asn188Thr) single nucleotide variant Pathogenic rs140332366 GRCh38 Chromosome 13, 20142726: 20142726
12 GJA3 NM_021954.3(GJA3): c.5G> A (p.Gly2Asp) single nucleotide variant Pathogenic rs397514703 GRCh37 Chromosome 13, 20717423: 20717423
13 GJA3 NM_021954.3(GJA3): c.5G> A (p.Gly2Asp) single nucleotide variant Pathogenic rs397514703 GRCh38 Chromosome 13, 20143284: 20143284
14 GJA3 NM_021954.3(GJA3): c.563A> T (p.Asn188Ile) single nucleotide variant Pathogenic rs140332366 GRCh37 Chromosome 13, 20716865: 20716865
15 GJA3 NM_021954.3(GJA3): c.563A> T (p.Asn188Ile) single nucleotide variant Pathogenic rs140332366 GRCh38 Chromosome 13, 20142726: 20142726
16 GJA3 NM_021954.3(GJA3): c.616T> A (p.Phe206Ile) single nucleotide variant Pathogenic rs397514704 GRCh37 Chromosome 13, 20716812: 20716812
17 GJA3 NM_021954.3(GJA3): c.616T> A (p.Phe206Ile) single nucleotide variant Pathogenic rs397514704 GRCh38 Chromosome 13, 20142673: 20142673
18 GJA3 NM_021954.3(GJA3): c.427G> A (p.Gly143Arg) single nucleotide variant Pathogenic rs398122937 GRCh37 Chromosome 13, 20717001: 20717001
19 GJA3 NM_021954.3(GJA3): c.427G> A (p.Gly143Arg) single nucleotide variant Pathogenic rs398122937 GRCh38 Chromosome 13, 20142862: 20142862
20 GJA3 NM_021954.3(GJA3): c.543C> T (p.Cys181=) single nucleotide variant Benign rs74607195 GRCh37 Chromosome 13, 20716885: 20716885
21 GJA3 NM_021954.3(GJA3): c.543C> T (p.Cys181=) single nucleotide variant Benign rs74607195 GRCh38 Chromosome 13, 20142746: 20142746
22 GJA3 NM_021954.3(GJA3): c.398G> A (p.Arg133Gln) single nucleotide variant Benign/Likely benign rs149933083 GRCh38 Chromosome 13, 20142891: 20142891
23 GJA3 NM_021954.3(GJA3): c.398G> A (p.Arg133Gln) single nucleotide variant Benign/Likely benign rs149933083 GRCh37 Chromosome 13, 20717030: 20717030
24 GJA3 NM_021954.3(GJA3): c.771C> A (p.Pro257=) single nucleotide variant Benign rs553789027 GRCh38 Chromosome 13, 20142518: 20142518
25 GJA3 NM_021954.3(GJA3): c.771C> A (p.Pro257=) single nucleotide variant Benign rs553789027 GRCh37 Chromosome 13, 20716657: 20716657
26 GJA3 NM_021954.3(GJA3): c.723C> A (p.Asp241Glu) single nucleotide variant Uncertain significance rs771424292 GRCh37 Chromosome 13, 20716705: 20716705
27 GJA3 NM_021954.3(GJA3): c.723C> A (p.Asp241Glu) single nucleotide variant Uncertain significance rs771424292 GRCh38 Chromosome 13, 20142566: 20142566
28 GJA3 NM_021954.3(GJA3): c.82G> A (p.Val28Met) single nucleotide variant Uncertain significance rs1555339539 GRCh37 Chromosome 13, 20717346: 20717346
29 GJA3 NM_021954.3(GJA3): c.82G> A (p.Val28Met) single nucleotide variant Uncertain significance rs1555339539 GRCh38 Chromosome 13, 20143207: 20143207
30 GJA3 NC_000013.11: g.(?_20141961)_(20143308_?)dup duplication Uncertain significance GRCh38 Chromosome 13, 20141961: 20143308
31 GJA3 NC_000013.11: g.(?_20141961)_(20143308_?)dup duplication Uncertain significance GRCh37 Chromosome 13, 20716100: 20717447
32 GJA3 NM_021954.3(GJA3): c.19C> G (p.Leu7Val) single nucleotide variant Uncertain significance rs1555339543 GRCh37 Chromosome 13, 20717409: 20717409
33 GJA3 NM_021954.3(GJA3): c.19C> G (p.Leu7Val) single nucleotide variant Uncertain significance rs1555339543 GRCh38 Chromosome 13, 20143270: 20143270
34 GJA3 NM_021954.3(GJA3): c.443C> T (p.Thr148Ile) single nucleotide variant Uncertain significance rs1555339477 GRCh38 Chromosome 13, 20142846: 20142846
35 GJA3 NM_021954.3(GJA3): c.443C> T (p.Thr148Ile) single nucleotide variant Uncertain significance rs1555339477 GRCh37 Chromosome 13, 20716985: 20716985
36 GJA3 NM_021954.3(GJA3): c.139G> T (p.Asp47Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 20143150: 20143150
37 GJA3 NM_021954.3(GJA3): c.139G> T (p.Asp47Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 20717289: 20717289

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 GJA3 GJA8

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 GABRG2 GJA3 GJA8
2 gap junction GO:0005921 8.96 GJA3 GJA8
3 connexin complex GO:0005922 8.62 GJA3 GJA8

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.16 GJA3 GJA8
2 transmembrane transport GO:0055085 9.13 GJA3 GJA8 SLC4A3
3 cell communication GO:0007154 8.62 GJA3 GJA8

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
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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