CTRCT1
MCID: CTR098
MIFTS: 41

Cataract 1, Multiple Types (CTRCT1)

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

Aliases & Classifications for Cataract 1, Multiple Types

MalaCards integrated aliases for Cataract 1, Multiple Types:

Name: Cataract 1, Multiple Types 58 76 13
Cataract 1, Multiple Types, with or Without Microcornea 58 12 76
Ctrct1 58 12 76
Czp1 58 12 76
Pulverulent Zonular Cataract 76 56
Cataract 1 Multiple Types 12 15
Cae1 12 76
Cataract, Zonular Pulverulent, 1; Czp1; Czp; Cae1 58
Zonular Nuclear Pulverulent Cataract 76
Cataract, Zonular Pulverulent, 1 58
Cataract, Zonular Pulverulent 1 74
Zonular Pulverulent Cataract 1 12
Cataract Zonular Pulverulent 1 76
Cataract Microcornea Syndrome 74
Cataract-Microcornea Syndrome 76
Zonular Pulverulent Cataract 6
Cataract, Duffy-Linked 58
Duffy Linked Cataract 12
Cataract Duffy-Linked 76
Ccmc 76
Cznp 76
Czp 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cataract 1, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cataract 1, Multiple Types

UniProtKB/Swiss-Prot : 76 Cataract 1, 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. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. 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. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

MalaCards based summary : Cataract 1, Multiple Types, also known as cataract 1, multiple types, with or without microcornea, is related to cataract 14, multiple types and cataract microcornea syndrome. An important gene associated with Cataract 1, Multiple Types is GJA8 (Gap Junction Protein Alpha 8), and among its related pathways/superpathways are NRF2 pathway and the visual cycle I (vertebrates). Affiliated tissues include eye and cortex, and related phenotypes are cataract and microcornea

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.

OMIM : 58 Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene. Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1. (116200)

Wikipedia : 77 The cataract-microcornea syndrome is the association of congenital cataract and... more...

Related Diseases for Cataract 1, 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 1, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 cataract 14, multiple types 32.8 ACHE GABRG2 GJA3 GJA8 HPGDS SNAI2
2 cataract microcornea syndrome 12.5
3 cataract 2, multiple types 11.8
4 cataract 9, multiple types 11.6
5 cataract 10.5
6 macular dystrophy with central cone involvement 10.4
7 microphthalmia 10.3
8 rheumatoid arthritis 10.3
9 arthritis 10.3
10 cataract 30, multiple types 10.3 GJA3 GJA8
11 early-onset nuclear cataract 10.2 GJA3 GJA8
12 adolescence-adult electroclinical syndrome 10.2 GABRG2 GJA8
13 cataract 21, multiple types 10.1
14 cataract 17, multiple types 10.1
15 cystic echinococcosis 10.1 CES1 CES2
16 childhood electroclinical syndrome 10.0 GABRG2 GJA8

Graphical network of the top 20 diseases related to Cataract 1, Multiple Types:



Diseases related to Cataract 1, Multiple Types

Symptoms & Phenotypes for Cataract 1, Multiple Types

Human phenotypes related to Cataract 1, Multiple Types:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cataract 33 hallmark (90%) HP:0000518
2 microcornea 33 occasional (7.5%) HP:0000482
3 myopia 33 frequent (33%) HP:0000545
4 nystagmus 33 occasional (7.5%) HP:0000639
5 corneal opacity 33 occasional (7.5%) HP:0007957
6 corneal dystrophy 33 occasional (7.5%) HP:0001131
7 iris coloboma 33 occasional (7.5%) HP:0000612
8 nuclear cataract 33 HP:0100018
9 posterior subcapsular cataract 33 HP:0007787
10 pulverulent cataract 33 HP:0010693
11 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
congenital cataract
nuclear cataract
posterior subcapsular cataract
pulverulent zonular cataract
stellate nuclear cataract
more

Clinical features from OMIM:

116200

Drugs & Therapeutics for Cataract 1, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 1, Multiple Types

Genetic Tests for Cataract 1, Multiple Types

Anatomical Context for Cataract 1, Multiple Types

MalaCards organs/tissues related to Cataract 1, Multiple Types:

42
Eye, Cortex

Publications for Cataract 1, Multiple Types

Articles related to Cataract 1, Multiple Types:

# Title Authors Year
1
Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract. ( 21174522 )
2011
2
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. ( 18006672 )
2008
3
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. ( 17724170 )
2007
4
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. ( 16604058 )
2006
5
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. ( 14627691 )
2003
6
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. ( 11846744 )
2001
7
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. ( 10480374 )
1999
8
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. ( 9497259 )
1998
9
PROBABLE LINKAGE BETWEEN A CONGENITAL CATARACT LOCUS AND THE DUFFY BLOOD GROUP LOCUS. ( 14059288 )
1963

Variations for Cataract 1, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 1, Multiple Types:

76
# Symbol AA change Variation ID SNP ID
1 GJA8 p.Pro88Ser VAR_002005 rs80358200
2 GJA8 p.Val64Gly VAR_037642
3 GJA8 p.Arg23Thr VAR_038797 rs80358203
4 GJA8 p.Val44Glu VAR_038798 rs80358204
5 GJA8 p.Glu48Lys VAR_038799 rs80358201
6 GJA8 p.Arg198Gln VAR_038800 rs80358205
7 GJA8 p.Asp47Asn VAR_069579 rs121434643
8 GJA8 p.Asp67Gly VAR_070021
9 GJA8 p.Arg76Cys VAR_070022

ClinVar genetic disease variations for Cataract 1, Multiple Types:

6 (show top 50) (show all 216)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA8 NM_005267.4(GJA8): c.262C> T (p.Pro88Ser) single nucleotide variant Pathogenic rs80358200 GRCh37 Chromosome 1, 147380344: 147380344
2 GJA8 NM_005267.4(GJA8): c.262C> T (p.Pro88Ser) single nucleotide variant Pathogenic rs80358200 GRCh38 Chromosome 1, 147908217: 147908217
3 GJA8 NM_005267.4(GJA8): c.142G> A (p.Glu48Lys) single nucleotide variant Pathogenic rs80358201 GRCh37 Chromosome 1, 147380224: 147380224
4 GJA8 NM_005267.4(GJA8): c.142G> A (p.Glu48Lys) single nucleotide variant Pathogenic rs80358201 GRCh38 Chromosome 1, 147908097: 147908097
5 GJA8 NM_005267.4(GJA8): c.741T> G (p.Ile247Met) single nucleotide variant Likely benign rs80358202 GRCh37 Chromosome 1, 147380823: 147380823
6 GJA8 NM_005267.4(GJA8): c.741T> G (p.Ile247Met) single nucleotide variant Likely benign rs80358202 GRCh38 Chromosome 1, 147908696: 147908696
7 GJA8 NM_005267.4(GJA8): c.68G> C (p.Arg23Thr) single nucleotide variant Pathogenic rs80358203 GRCh37 Chromosome 1, 147380150: 147380150
8 GJA8 NM_005267.4(GJA8): c.68G> C (p.Arg23Thr) single nucleotide variant Pathogenic rs80358203 GRCh38 Chromosome 1, 147908023: 147908023
9 GJA8 NM_005267.4(GJA8): c.131T> A (p.Val44Glu) single nucleotide variant Pathogenic rs80358204 GRCh37 Chromosome 1, 147380213: 147380213
10 GJA8 NM_005267.4(GJA8): c.131T> A (p.Val44Glu) single nucleotide variant Pathogenic rs80358204 GRCh38 Chromosome 1, 147908086: 147908086
11 GJA8 NM_005267.4(GJA8): c.593G> A (p.Arg198Gln) single nucleotide variant Pathogenic rs80358205 GRCh37 Chromosome 1, 147380675: 147380675
12 GJA8 NM_005267.4(GJA8): c.593G> A (p.Arg198Gln) single nucleotide variant Pathogenic rs80358205 GRCh38 Chromosome 1, 147908548: 147908548
13 GJA8 NM_005267.4(GJA8): c.139G> A (p.Asp47Asn) single nucleotide variant Pathogenic rs121434643 GRCh37 Chromosome 1, 147380221: 147380221
14 GJA8 NM_005267.4(GJA8): c.139G> A (p.Asp47Asn) single nucleotide variant Pathogenic rs121434643 GRCh38 Chromosome 1, 147908094: 147908094
15 GJA8 NM_005267.4(GJA8): c.566C> T (p.Pro189Leu) single nucleotide variant Pathogenic rs397515627 GRCh37 Chromosome 1, 147380648: 147380648
16 GJA8 NM_005267.4(GJA8): c.566C> T (p.Pro189Leu) single nucleotide variant Pathogenic rs397515627 GRCh38 Chromosome 1, 147908521: 147908521
17 GJA8 NM_005267.4(GJA8): c.134G> C (p.Trp45Ser) single nucleotide variant Likely pathogenic rs864309688 GRCh37 Chromosome 1, 147380216: 147380216
18 GJA8 NM_005267.4(GJA8): c.134G> C (p.Trp45Ser) single nucleotide variant Likely pathogenic rs864309688 GRCh38 Chromosome 1, 147908089: 147908089
19 GJA8 NM_005267.4(GJA8): c.658A> G (p.Asn220Asp) single nucleotide variant Likely benign rs138140155 GRCh37 Chromosome 1, 147380740: 147380740
20 GJA8 NM_005267.4(GJA8): c.658A> G (p.Asn220Asp) single nucleotide variant Likely benign rs138140155 GRCh38 Chromosome 1, 147908613: 147908613
21 GJA8 NM_005267.4(GJA8): c.804C> T (p.Leu268=) single nucleotide variant Benign rs3766503 GRCh37 Chromosome 1, 147380886: 147380886
22 GJA8 NM_005267.4(GJA8): c.804C> T (p.Leu268=) single nucleotide variant Benign rs3766503 GRCh38 Chromosome 1, 147908759: 147908759
23 GJA8 NM_005267.4(GJA8): c.-24A> G single nucleotide variant Likely benign rs377431608 GRCh37 Chromosome 1, 147374975: 147374975
24 GJA8 NM_005267.4(GJA8): c.-24A> G single nucleotide variant Likely benign rs377431608 GRCh38 Chromosome 1, 147902849: 147902849
25 GJA8 NM_005267.4(GJA8): c.1069A> G (p.Thr357Ala) single nucleotide variant Uncertain significance rs782584748 GRCh38 Chromosome 1, 147909024: 147909024
26 GJA8 NM_005267.4(GJA8): c.1069A> G (p.Thr357Ala) single nucleotide variant Uncertain significance rs782584748 GRCh37 Chromosome 1, 147381151: 147381151
27 GJA8 NM_005267.4(GJA8): c.678C> A (p.His226Gln) single nucleotide variant Uncertain significance rs201476382 GRCh38 Chromosome 1, 147908633: 147908633
28 GJA8 NM_005267.4(GJA8): c.678C> A (p.His226Gln) single nucleotide variant Uncertain significance rs201476382 GRCh37 Chromosome 1, 147380760: 147380760
29 GJA8 NM_005267.4(GJA8): c.893A> G (p.Asn298Ser) single nucleotide variant Likely benign rs142376567 GRCh38 Chromosome 1, 147908848: 147908848
30 GJA8 NM_005267.4(GJA8): c.893A> G (p.Asn298Ser) single nucleotide variant Likely benign rs142376567 GRCh37 Chromosome 1, 147380975: 147380975
31 GJA8 NM_005267.4(GJA8): c.-33C> T single nucleotide variant Likely benign rs587768589 GRCh37 Chromosome 1, 147374966: 147374966
32 GJA8 NM_005267.4(GJA8): c.-33C> T single nucleotide variant Likely benign rs587768589 GRCh38 Chromosome 1, 147902840: 147902840
33 GJA8 NM_005267.4(GJA8): c.300C> T (p.Val100=) single nucleotide variant Uncertain significance rs886045254 GRCh37 Chromosome 1, 147380382: 147380382
34 GJA8 NM_005267.4(GJA8): c.300C> T (p.Val100=) single nucleotide variant Uncertain significance rs886045254 GRCh38 Chromosome 1, 147908255: 147908255
35 GJA8 NM_005267.4(GJA8): c.1096G> A (p.Val366Met) single nucleotide variant Uncertain significance rs782056871 GRCh38 Chromosome 1, 147909051: 147909051
36 GJA8 NM_005267.4(GJA8): c.1096G> A (p.Val366Met) single nucleotide variant Uncertain significance rs782056871 GRCh37 Chromosome 1, 147381178: 147381178
37 GJA8 NM_005267.4(GJA8): c.58G> A (p.Val20Ile) single nucleotide variant Uncertain significance rs782298787 GRCh37 Chromosome 1, 147380140: 147380140
38 GJA8 NM_005267.4(GJA8): c.58G> A (p.Val20Ile) single nucleotide variant Uncertain significance rs782298787 GRCh38 Chromosome 1, 147908013: 147908013
39 GJA8 NM_005267.4(GJA8): c.183C> T (p.Cys61=) single nucleotide variant Uncertain significance rs782213276 GRCh37 Chromosome 1, 147380265: 147380265
40 GJA8 NM_005267.4(GJA8): c.183C> T (p.Cys61=) single nucleotide variant Uncertain significance rs782213276 GRCh38 Chromosome 1, 147908138: 147908138
41 GJA8 NM_005267.4(GJA8): c.285C> T (p.His95=) single nucleotide variant Uncertain significance rs886045253 GRCh37 Chromosome 1, 147380367: 147380367
42 GJA8 NM_005267.4(GJA8): c.285C> T (p.His95=) single nucleotide variant Uncertain significance rs886045253 GRCh38 Chromosome 1, 147908240: 147908240
43 GJA8 NM_005267.4(GJA8): c.385G> A (p.Val129Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs142415337 GRCh37 Chromosome 1, 147380467: 147380467
44 GJA8 NM_005267.4(GJA8): c.385G> A (p.Val129Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs142415337 GRCh38 Chromosome 1, 147908340: 147908340
45 GJA8 NM_005267.4(GJA8): c.875T> C (p.Leu292Pro) single nucleotide variant Uncertain significance rs886045255 GRCh38 Chromosome 1, 147908830: 147908830
46 GJA8 NM_005267.4(GJA8): c.875T> C (p.Leu292Pro) single nucleotide variant Uncertain significance rs886045255 GRCh37 Chromosome 1, 147380957: 147380957
47 GJA8 NM_005267.4(GJA8): c.994G> A (p.Glu332Lys) single nucleotide variant Uncertain significance rs143688085 GRCh38 Chromosome 1, 147908949: 147908949
48 GJA8 NM_005267.4(GJA8): c.994G> A (p.Glu332Lys) single nucleotide variant Uncertain significance rs143688085 GRCh37 Chromosome 1, 147381076: 147381076
49 GJA8 NM_005267.4(GJA8): c.1102G> C (p.Glu368Gln) single nucleotide variant Likely benign rs587673409 GRCh38 Chromosome 1, 147909057: 147909057
50 GJA8 NM_005267.4(GJA8): c.1102G> C (p.Glu368Gln) single nucleotide variant Likely benign rs587673409 GRCh37 Chromosome 1, 147381184: 147381184

Expression for Cataract 1, Multiple Types

Search GEO for disease gene expression data for Cataract 1, Multiple Types.

Pathways for Cataract 1, Multiple Types

Pathways related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.72 CES1 CES2 CES3 CES4A CES5A
2
Show member pathways
11.3 CES1 CES2 CES4A CES5A
3 10.88 CES1 CES2 CES3 CES4A CES5A
4
Show member pathways
10.09 CES1 CES2 CES5A

GO Terms for Cataract 1, Multiple Types

Cellular components related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.17 ACHE CAT CES1 CES2 CES3 CES4A
2 gap junction GO:0005921 9.16 GJA3 GJA8
3 connexin complex GO:0005922 8.96 GJA3 GJA8

Biological processes related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tetramerization GO:0051262 9.4 ACHE CAT
2 response to radiation GO:0009314 9.37 CAT SNAI2
3 xenobiotic metabolic process GO:0006805 9.33 CES1 CES2 CES3
4 prostaglandin metabolic process GO:0006693 9.32 CES2 HPGDS
5 regulation of transcription by RNA polymerase III GO:0006359 9.26 ZNF143 ZNF76
6 regulation of chemokine production GO:0032642 8.96 ACKR1 SNAI2
7 lipid catabolic process GO:0016042 8.92 CES1 CES3 CES4A CES5A

Molecular functions related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 ACHE CES1 CES2 CES3 CES4A CES5A
2 triglyceride lipase activity GO:0004806 9.46 CES1 CES3 CES4A CES5A
3 methylumbelliferyl-acetate deacetylase activity GO:0047374 9.26 CES1 CES2
4 sterol esterase activity GO:0004771 9.26 CES1 CES3 CES4A CES5A
5 carboxylic ester hydrolase activity GO:0052689 9.1 ACHE CES1 CES2 CES3 CES4A CES5A
6 gap junction channel activity GO:0005243 9.07 GJA8

Sources for Cataract 1, 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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