MCID: CTR098
MIFTS: 35

Cataract 1, Multiple Types

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

Aliases & Classifications for Cataract 1, Multiple Types

MalaCards integrated aliases for Cataract 1, Multiple Types:

Name: Cataract 1, Multiple Types 53 71 13
Cataract 1, Multiple Types, with or Without Microcornea 53 12 71
Ctrct1 53 12 71
Czp1 53 12 71
Pulverulent Zonular Cataract 71 51
Cataract 1 Multiple Types 12 14
Cae1 12 71
Cataract, Zonular Pulverulent, 1; Czp1; Czp; Cae1 53
Zonular Nuclear Pulverulent Cataract 71
Cataract, Zonular Pulverulent, 1 53
Cataract, Zonular Pulverulent 1 69
Zonular Pulverulent Cataract 1 12
Cataract Zonular Pulverulent 1 71
Cataract Microcornea Syndrome 69
Cataract-Microcornea Syndrome 71
Cataract, Duffy-Linked 53
Duffy Linked Cataract 12
Cataract Duffy-Linked 71
Ccmc 71
Cznp 71
Czp 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
cataract 1, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 116200
Disease Ontology 12 DOID:0110231
ICD10 32 Q12.0
MedGen 39 C1861828
MeSH 41 D002386

Summaries for Cataract 1, Multiple Types

UniProtKB/Swiss-Prot : 71 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 microcornea syndrome and cataract 9, multiple types, and has symptoms including microcornea, congenital cataract and nuclear cataract. An important gene associated with Cataract 1, Multiple Types is GJA8 (Gap Junction Protein Alpha 8). Affiliated tissues include eye and cortex, and related phenotype is vision/eye.

OMIM : 53 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)

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.

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 microcornea syndrome 12.4
2 cataract 9, multiple types 11.1
3 cataract 10.4
4 cataract 30, multiple types 10.2 GJA3 GJA8
5 early-onset nuclear cataract 10.2 GJA3 GJA8
6 adolescence-adult electroclinical syndrome 10.2 GABRG2 GJA8
7 childhood electroclinical syndrome 10.1 GABRG2 GJA8
8 lens disease 10.0 GJA3 GJA8
9 macular dystrophy with central cone involvement 10.0
10 epilepsy, idiopathic generalized 10 9.9 GABRG2 GJA8
11 cataract 14, multiple types 8.9 ACHE GABRG2 GJA3 GJA8 HPGDS SNAI2

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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 microcornea 31 occasional (7.5%) HP:0000482
2 congenital cataract 31 HP:0000519
3 nuclear cataract 31 HP:0100018
4 posterior subcapsular cataract 31 HP:0007787
5 pulverulent cataract 31 HP:0010693

MGI Mouse Phenotypes related to Cataract 1, Multiple Types:

43
# 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:

38
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:

71
# 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
# 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.142G> A (p.Glu48Lys) single nucleotide variant Pathogenic rs80358201 GRCh37 Chromosome 1, 147380224: 147380224
3 GJA8 NM_005267.4(GJA8): c.68G> C (p.Arg23Thr) single nucleotide variant Pathogenic rs80358203 GRCh37 Chromosome 1, 147380150: 147380150
4 GJA8 NM_005267.4(GJA8): c.131T> A (p.Val44Glu) single nucleotide variant Pathogenic rs80358204 GRCh37 Chromosome 1, 147380213: 147380213
5 GJA8 NM_005267.4(GJA8): c.593G> A (p.Arg198Gln) single nucleotide variant Pathogenic rs80358205 GRCh37 Chromosome 1, 147380675: 147380675
6 GJA8 NM_005267.4(GJA8): c.139G> A (p.Asp47Asn) single nucleotide variant Pathogenic rs121434643 GRCh37 Chromosome 1, 147380221: 147380221
7 GJA8 NM_005267.4(GJA8): c.566C> T (p.Pro189Leu) single nucleotide variant Pathogenic rs397515627 GRCh37 Chromosome 1, 147380648: 147380648
8 GJA8 NM_005267.4(GJA8): c.827C> T (p.Ser276Phe) single nucleotide variant Pathogenic rs45619342 GRCh38 Chromosome 1, 147908782: 147908782

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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