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 57 75
Zonular Pulverulent Cataract 3 12 75 29 6
Ctrct14 57 12 75
Czp3 57 12 75
Cae3 57 12 75
Cataract, Zonular Pulverulent 3 57 73
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:

OMIM 57 601885
Disease Ontology 12 DOID:0110253
ICD10 33 Q12.0
MedGen 42 C1866078
MeSH 44 D002386
SNOMED-CT via HPO 69 263681008
UMLS 73 C1866078

Summaries for Cataract 14, Multiple Types

UniProtKB/Swiss-Prot : 75 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 30, multiple types and early-onset nuclear cataract. An important gene associated with Cataract 14, Multiple Types is GJA3 (Gap Junction Protein Alpha 3), and among its related pathways/superpathways are Salivary secretion and Gastric acid production. Affiliated tissues include eye, cortex and skin, 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 : 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 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 30, multiple types 10.2 GJA3 GJA8
2 early-onset nuclear cataract 10.2 GJA3 GJA8
3 adolescence-adult electroclinical syndrome 10.1 GABRG2 GJA8
4 postcholecystectomy syndrome 10.0 CCK GAST
5 childhood electroclinical syndrome 10.0 GABRG2 GJA8
6 nasal cavity adenocarcinoma 10.0 CCK GAST
7 duodenogastric reflux 10.0 CCK GAST
8 pancreatic cholera 10.0 CCK GAST
9 duodenal gastrinoma 9.9 CCK GAST
10 skin carcinoma in situ 9.9 CD86 HPGDS
11 cataract 1, multiple types 9.6 ACHE GABRG2 GJA3 GJA8 HPGDS SNAI2
12 large intestine cancer 9.6 CD86 GAST HPGDS SNAI2

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

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

Human phenotypes related to Cataract 14, Multiple Types:

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

MGI Mouse Phenotypes related to Cataract 14, Multiple Types:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ACHE CCK CD86 GABRG2 GAST GNRH1
2 endocrine/exocrine gland MP:0005379 9.92 CCK CD86 GAST GNRH1 SLC4A2 SLC9A1
3 mortality/aging MP:0010768 9.9 ACHE DDX41 GABRG2 GAST HPGDS LY75
4 nervous system MP:0003631 9.65 ACHE CCK CD86 GABRG2 GNRH1 HPGDS
5 reproductive system MP:0005389 9.23 ACHE GABRG2 GNRH1 SLC4A2 SLC9A1 SNAI2

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;chemotherapy

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 29 GJA3

Anatomical Context for Cataract 14, Multiple Types

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

41
Eye, Cortex, Skin

Publications for Cataract 14, Multiple Types

Variations for Cataract 14, Multiple Types

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

75 (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.188A> G (p.Asn63Ser) single nucleotide variant Pathogenic rs121917823 GRCh37 Chromosome 13, 20717240: 20717240
2 GJA3 NM_021954.3(GJA3): c.188A> G (p.Asn63Ser) single nucleotide variant Pathogenic rs121917823 GRCh38 Chromosome 13, 20143101: 20143101
3 GJA3 GJA3, 1-BP INS, 1137C insertion Pathogenic
4 GJA3 NM_021954.3(GJA3): c.560C> T (p.Pro187Leu) single nucleotide variant Pathogenic rs121917825 GRCh37 Chromosome 13, 20716868: 20716868
5 GJA3 NM_021954.3(GJA3): c.560C> T (p.Pro187Leu) single nucleotide variant Pathogenic rs121917825 GRCh38 Chromosome 13, 20142729: 20142729
6 GJA3 NM_021954.3(GJA3): c.227G> A (p.Arg76His) single nucleotide variant Pathogenic rs121917827 GRCh37 Chromosome 13, 20717201: 20717201
7 GJA3 NM_021954.3(GJA3): c.227G> A (p.Arg76His) single nucleotide variant Pathogenic rs121917827 GRCh38 Chromosome 13, 20143062: 20143062
8 GJA3 NM_021954.3(GJA3): c.563A> C (p.Asn188Thr) single nucleotide variant Pathogenic rs140332366 GRCh37 Chromosome 13, 20716865: 20716865
9 GJA3 NM_021954.3(GJA3): c.563A> C (p.Asn188Thr) single nucleotide variant Pathogenic rs140332366 GRCh38 Chromosome 13, 20142726: 20142726
10 GJA3 NM_021954.3(GJA3): c.5G> A (p.Gly2Asp) single nucleotide variant Pathogenic rs397514703 GRCh37 Chromosome 13, 20717423: 20717423
11 GJA3 NM_021954.3(GJA3): c.5G> A (p.Gly2Asp) single nucleotide variant Pathogenic rs397514703 GRCh38 Chromosome 13, 20143284: 20143284
12 GJA3 NM_021954.3(GJA3): c.563A> T (p.Asn188Ile) single nucleotide variant Pathogenic rs140332366 GRCh37 Chromosome 13, 20716865: 20716865
13 GJA3 NM_021954.3(GJA3): c.563A> T (p.Asn188Ile) single nucleotide variant Pathogenic rs140332366 GRCh38 Chromosome 13, 20142726: 20142726
14 GJA3 NM_021954.3(GJA3): c.616T> A (p.Phe206Ile) single nucleotide variant Pathogenic rs397514704 GRCh37 Chromosome 13, 20716812: 20716812
15 GJA3 NM_021954.3(GJA3): c.616T> A (p.Phe206Ile) single nucleotide variant Pathogenic rs397514704 GRCh38 Chromosome 13, 20142673: 20142673
16 GJA3 NM_021954.3(GJA3): c.427G> A (p.Gly143Arg) single nucleotide variant Pathogenic rs398122937 GRCh37 Chromosome 13, 20717001: 20717001
17 GJA3 NM_021954.3(GJA3): c.427G> A (p.Gly143Arg) single nucleotide variant Pathogenic rs398122937 GRCh38 Chromosome 13, 20142862: 20142862
18 GJA3 NM_021954.3(GJA3): c.176C> T (p.Pro59Leu) single nucleotide variant Pathogenic rs864309691 GRCh37 Chromosome 13, 20717252: 20717252
19 GJA3 NM_021954.3(GJA3): c.176C> T (p.Pro59Leu) single nucleotide variant Pathogenic rs864309691 GRCh38 Chromosome 13, 20143113: 20143113
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 GRCh38 Chromosome 13, 20142566: 20142566
27 GJA3 NM_021954.3(GJA3): c.723C> A (p.Asp241Glu) single nucleotide variant Uncertain significance rs771424292 GRCh37 Chromosome 13, 20716705: 20716705
28 GJA3 NM_021954.3(GJA3): c.82G> A (p.Val28Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 20717346: 20717346
29 GJA3 NM_021954.3(GJA3): c.82G> A (p.Val28Met) single nucleotide variant Uncertain significance 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 GRCh38 Chromosome 13, 20143270: 20143270
33 GJA3 NM_021954.3(GJA3): c.19C> G (p.Leu7Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 20717409: 20717409
34 GJA3 NM_021954.3(GJA3): c.443C> T (p.Thr148Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 20142846: 20142846
35 GJA3 NM_021954.3(GJA3): c.443C> T (p.Thr148Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 20716985: 20716985
36 GJA3 NM_021954.3(GJA3): c.139G> T (p.Asp47Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 20717289: 20717289
37 GJA3 NM_021954.3(GJA3): c.139G> T (p.Asp47Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 20143150: 20143150

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
11.35 GAST SLC4A2 SLC9A1
2 9.47 CCK GAST

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 plasma membrane GO:0005886 9.7 ACHE CD86 GABRG2 GJA3 GJA8 OSGEP
2 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 ion transport GO:0006811 9.55 GABRG2 SLC4A2 SLC4A3 SLC9A1 TRPM6
2 inorganic anion transport GO:0015698 9.32 SLC4A2 SLC4A3
3 anion transport GO:0006820 9.26 SLC4A2 SLC4A3
4 transmembrane transport GO:0055085 9.17 GJA3 GJA8 MT-CO3 SLC4A2 SLC4A3 SLC9A1
5 regulation of intracellular pH GO:0051453 9.13 SLC4A2 SLC4A3 SLC9A1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.5 CCK GAST GNRH1
2 anion:anion antiporter activity GO:0015301 9.37 SLC4A2 SLC4A3
3 anion transmembrane transporter activity GO:0008509 9.26 SLC4A2 SLC4A3
4 inorganic anion exchanger activity GO:0005452 9.16 SLC4A2 SLC4A3
5 gap junction channel activity GO:0005243 8.96 GJA3 GJA8
6 antiporter activity GO:0015297 8.8 SLC4A2 SLC4A3 SLC9A1

Sources for Cataract 14, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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