CTRCT1
MCID: CTR098
MIFTS: 35

Cataract 1, Multiple Types (CTRCT1)

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

Aliases & Classifications for Cataract 1, Multiple Types

MalaCards integrated aliases for Cataract 1, Multiple Types:

Name: Cataract 1, Multiple Types 57 75 13
Cataract 1, Multiple Types, with or Without Microcornea 57 12 75
Ctrct1 57 12 75
Czp1 57 12 75
Pulverulent Zonular Cataract 75 55
Cataract 1 Multiple Types 12 15
Cae1 12 75
Cataract, Zonular Pulverulent, 1; Czp1; Czp; Cae1 57
Zonular Nuclear Pulverulent Cataract 75
Cataract, Zonular Pulverulent, 1 57
Cataract, Zonular Pulverulent 1 73
Zonular Pulverulent Cataract 1 12
Cataract Zonular Pulverulent 1 75
Cataract Microcornea Syndrome 73
Cataract-Microcornea Syndrome 75
Zonular Pulverulent Cataract 6
Cataract, Duffy-Linked 57
Duffy Linked Cataract 12
Cataract Duffy-Linked 75
Ccmc 75
Cznp 75
Czp 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cataract 1, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 116200
Disease Ontology 12 DOID:0110231
ICD10 33 Q12.0
MedGen 42 C1861828
MeSH 44 D002386

Summaries for Cataract 1, Multiple Types

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include eye and cortex, and related phenotypes are microcornea and congenital cataract

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 : 57 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)

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 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 11)
# Related Disease Score Top Affiliating Genes
1 cataract 14, multiple types 30.4 ACHE GABRG2 GJA3 GJA8 HPGDS SNAI2
2 cataract microcornea syndrome 12.3
3 cataract 2, multiple types 11.6
4 cataract 9, multiple types 11.1
5 cataract 10.4
6 cataract 30, multiple types 10.4 GJA3 GJA8
7 early-onset nuclear cataract 10.3 GJA3 GJA8
8 adolescence-adult electroclinical syndrome 10.3 GABRG2 GJA8
9 childhood electroclinical syndrome 10.2 GABRG2 GJA8
10 lens disease 10.1 GJA3 GJA8
11 epilepsy, idiopathic generalized 10 9.8 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nuclear cataract
pulverulent zonular cataract
congenital cataract
stellate nuclear cataract
posterior subcapsular cataract
more

Clinical features from OMIM:

116200

Human phenotypes related to Cataract 1, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 microcornea 32 occasional (7.5%) HP:0000482
2 congenital cataract 32 HP:0000519
3 posterior subcapsular cataract 32 HP:0007787
4 pulverulent cataract 32 HP:0010693
5 nuclear cataract 32 HP:0100018

MGI Mouse Phenotypes related to Cataract 1, Multiple Types:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 ACHE ATP11A GJA3 GJA8 SNAI2

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:

41
Eye, Cortex

Publications for Cataract 1, Multiple Types

Articles related to Cataract 1, Multiple Types:

# Title Authors Year
1
Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin. ( 10480374 )
1999

Variations for Cataract 1, Multiple Types

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

75
# 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 208)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA8 NM_005267.4(GJA8): c.593G> A (p.Arg198Gln) single nucleotide variant Pathogenic rs80358205 GRCh37 Chromosome 1, 147380675: 147380675
2 GJA8 NM_005267.4(GJA8): c.593G> A (p.Arg198Gln) single nucleotide variant Pathogenic rs80358205 GRCh38 Chromosome 1, 147908548: 147908548
3 GJA8 NM_005267.4(GJA8): c.139G> A (p.Asp47Asn) single nucleotide variant Pathogenic rs121434643 GRCh37 Chromosome 1, 147380221: 147380221
4 GJA8 NM_005267.4(GJA8): c.139G> A (p.Asp47Asn) single nucleotide variant Pathogenic rs121434643 GRCh38 Chromosome 1, 147908094: 147908094
5 GJA8 NM_005267.4(GJA8): c.262C> T (p.Pro88Ser) single nucleotide variant Pathogenic rs80358200 GRCh37 Chromosome 1, 147380344: 147380344
6 GJA8 NM_005267.4(GJA8): c.262C> T (p.Pro88Ser) single nucleotide variant Pathogenic rs80358200 GRCh38 Chromosome 1, 147908217: 147908217
7 GJA8 NM_005267.4(GJA8): c.142G> A (p.Glu48Lys) single nucleotide variant Pathogenic rs80358201 GRCh37 Chromosome 1, 147380224: 147380224
8 GJA8 NM_005267.4(GJA8): c.142G> A (p.Glu48Lys) single nucleotide variant Pathogenic rs80358201 GRCh38 Chromosome 1, 147908097: 147908097
9 GJA8 NM_005267.4(GJA8): c.68G> C (p.Arg23Thr) single nucleotide variant Pathogenic rs80358203 GRCh37 Chromosome 1, 147380150: 147380150
10 GJA8 NM_005267.4(GJA8): c.68G> C (p.Arg23Thr) single nucleotide variant Pathogenic rs80358203 GRCh38 Chromosome 1, 147908023: 147908023
11 GJA8 NM_005267.4(GJA8): c.131T> A (p.Val44Glu) single nucleotide variant Pathogenic rs80358204 GRCh37 Chromosome 1, 147380213: 147380213
12 GJA8 NM_005267.4(GJA8): c.131T> A (p.Val44Glu) single nucleotide variant Pathogenic rs80358204 GRCh38 Chromosome 1, 147908086: 147908086
13 GJA8 NM_005267.4(GJA8): c.566C> T (p.Pro189Leu) single nucleotide variant Pathogenic rs397515627 GRCh37 Chromosome 1, 147380648: 147380648
14 GJA8 NM_005267.4(GJA8): c.566C> T (p.Pro189Leu) single nucleotide variant Pathogenic rs397515627 GRCh38 Chromosome 1, 147908521: 147908521
15 GJA8 NM_005267.4(GJA8): c.134G> C (p.Trp45Ser) single nucleotide variant Likely pathogenic rs864309688 GRCh37 Chromosome 1, 147380216: 147380216
16 GJA8 NM_005267.4(GJA8): c.134G> C (p.Trp45Ser) single nucleotide variant Likely pathogenic rs864309688 GRCh38 Chromosome 1, 147908089: 147908089
17 GJA8 NM_005267.4(GJA8): c.658A> G (p.Asn220Asp) single nucleotide variant Likely benign rs138140155 GRCh37 Chromosome 1, 147380740: 147380740
18 GJA8 NM_005267.4(GJA8): c.658A> G (p.Asn220Asp) single nucleotide variant Likely benign rs138140155 GRCh38 Chromosome 1, 147908613: 147908613
19 GJA8 NM_005267.4(GJA8): c.804C> T (p.Leu268=) single nucleotide variant Benign rs3766503 GRCh37 Chromosome 1, 147380886: 147380886
20 GJA8 NM_005267.4(GJA8): c.804C> T (p.Leu268=) single nucleotide variant Benign rs3766503 GRCh38 Chromosome 1, 147908759: 147908759
21 GJA3 NM_021954.3(GJA3): c.1017G> A (p.Ala339=) single nucleotide variant Benign rs11617415 GRCh37 Chromosome 13, 20716411: 20716411
22 GJA3 NM_021954.3(GJA3): c.1017G> A (p.Ala339=) single nucleotide variant Benign rs11617415 GRCh38 Chromosome 13, 20142272: 20142272
23 GJA3 NM_021954.3(GJA3): c.895C> A (p.Leu299Met) single nucleotide variant Benign rs968566 GRCh38 Chromosome 13, 20142394: 20142394
24 GJA3 NM_021954.3(GJA3): c.895C> A (p.Leu299Met) single nucleotide variant Benign rs968566 GRCh37 Chromosome 13, 20716533: 20716533
25 GJA3 NM_021954.3(GJA3): c.543C> T (p.Cys181=) single nucleotide variant Benign rs74607195 GRCh37 Chromosome 13, 20716885: 20716885
26 GJA3 NM_021954.3(GJA3): c.543C> T (p.Cys181=) single nucleotide variant Benign rs74607195 GRCh38 Chromosome 13, 20142746: 20142746
27 GJA8 NM_005267.4(GJA8): c.-24A> G single nucleotide variant Likely benign rs377431608 GRCh37 Chromosome 1, 147374975: 147374975
28 GJA8 NM_005267.4(GJA8): c.-24A> G single nucleotide variant Likely benign rs377431608 GRCh38 Chromosome 1, 147902849: 147902849
29 GJA8 NM_005267.4(GJA8): c.1069A> G (p.Thr357Ala) single nucleotide variant Uncertain significance rs782584748 GRCh38 Chromosome 1, 147909024: 147909024
30 GJA8 NM_005267.4(GJA8): c.1069A> G (p.Thr357Ala) single nucleotide variant Uncertain significance rs782584748 GRCh37 Chromosome 1, 147381151: 147381151
31 GJA8 NM_005267.4(GJA8): c.678C> A (p.His226Gln) single nucleotide variant Uncertain significance rs201476382 GRCh38 Chromosome 1, 147908633: 147908633
32 GJA8 NM_005267.4(GJA8): c.678C> A (p.His226Gln) single nucleotide variant Uncertain significance rs201476382 GRCh37 Chromosome 1, 147380760: 147380760
33 GJA8 NM_005267.4(GJA8): c.893A> G (p.Asn298Ser) single nucleotide variant Likely benign rs142376567 GRCh38 Chromosome 1, 147908848: 147908848
34 GJA8 NM_005267.4(GJA8): c.893A> G (p.Asn298Ser) single nucleotide variant Likely benign rs142376567 GRCh37 Chromosome 1, 147380975: 147380975
35 GJA8 NM_005267.4(GJA8): c.-33C> T single nucleotide variant Likely benign rs587768589 GRCh37 Chromosome 1, 147374966: 147374966
36 GJA8 NM_005267.4(GJA8): c.-33C> T single nucleotide variant Likely benign rs587768589 GRCh38 Chromosome 1, 147902840: 147902840
37 GJA8 NM_005267.4(GJA8): c.300C> T (p.Val100=) single nucleotide variant Uncertain significance rs886045254 GRCh37 Chromosome 1, 147380382: 147380382
38 GJA8 NM_005267.4(GJA8): c.300C> T (p.Val100=) single nucleotide variant Uncertain significance rs886045254 GRCh38 Chromosome 1, 147908255: 147908255
39 GJA8 NM_005267.4(GJA8): c.1096G> A (p.Val366Met) single nucleotide variant Uncertain significance rs782056871 GRCh37 Chromosome 1, 147381178: 147381178
40 GJA8 NM_005267.4(GJA8): c.1096G> A (p.Val366Met) single nucleotide variant Uncertain significance rs782056871 GRCh38 Chromosome 1, 147909051: 147909051
41 GJA8 NM_005267.4(GJA8): c.58G> A (p.Val20Ile) single nucleotide variant Uncertain significance rs782298787 GRCh37 Chromosome 1, 147380140: 147380140
42 GJA8 NM_005267.4(GJA8): c.58G> A (p.Val20Ile) single nucleotide variant Uncertain significance rs782298787 GRCh38 Chromosome 1, 147908013: 147908013
43 GJA8 NM_005267.4(GJA8): c.183C> T (p.Cys61=) single nucleotide variant Uncertain significance rs782213276 GRCh37 Chromosome 1, 147380265: 147380265
44 GJA8 NM_005267.4(GJA8): c.183C> T (p.Cys61=) single nucleotide variant Uncertain significance rs782213276 GRCh38 Chromosome 1, 147908138: 147908138
45 GJA8 NM_005267.4(GJA8): c.285C> T (p.His95=) single nucleotide variant Uncertain significance rs886045253 GRCh37 Chromosome 1, 147380367: 147380367
46 GJA8 NM_005267.4(GJA8): c.285C> T (p.His95=) single nucleotide variant Uncertain significance rs886045253 GRCh38 Chromosome 1, 147908240: 147908240
47 GJA8 NM_005267.4(GJA8): c.385G> A (p.Val129Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs142415337 GRCh37 Chromosome 1, 147380467: 147380467
48 GJA8 NM_005267.4(GJA8): c.385G> A (p.Val129Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs142415337 GRCh38 Chromosome 1, 147908340: 147908340
49 GJA8 NM_005267.4(GJA8): c.875T> C (p.Leu292Pro) single nucleotide variant Uncertain significance rs886045255 GRCh38 Chromosome 1, 147908830: 147908830
50 GJA8 NM_005267.4(GJA8): c.875T> C (p.Leu292Pro) single nucleotide variant Uncertain significance rs886045255 GRCh37 Chromosome 1, 147380957: 147380957

Expression for Cataract 1, Multiple Types

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

Pathways for Cataract 1, Multiple Types

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 cell junction GO:0030054 9.46 ACHE 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 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 9.16 GJA3 GJA8
2 regulation of transcription by RNA polymerase III GO:0006359 8.96 ZNF143 ZNF76
3 regulation of chemokine production GO:0032642 8.62 ACKR1 SNAI2

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJA3 GJA8

Sources for Cataract 1, 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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