CTRCT1
MCID: CTR098
MIFTS: 37

Cataract 1, Multiple Types (CTRCT1) malady

Categories: Genetic diseases, Eye diseases, Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Cataract 1, Multiple Types

Aliases & Descriptions for Cataract 1, Multiple Types:

Name: Cataract 1, Multiple Types 54 66 13
Cataract 1, Multiple Types, with or Without Microcornea 12 66
Zonular Pulverulent Cataract 1 12 24
Pulverulent Zonular Cataract 66 52
Cataract 1 Multiple Types 12 14
Ctrct1 12 66
Cae1 12 66
Czp1 12 66
Zonular Nuclear Pulverulent Cataract 66
Cataract, Zonular Pulverulent 1 69
Cataract Zonular Pulverulent 1 66
Cataract Microcornea Syndrome 69
Cataract-Microcornea Syndrome 66
Duffy Linked Cataract 12
Cataract Duffy-Linked 66
Ccmc 66
Cznp 66
Czp 66

Characteristics:

HPO:

32
cataract 1, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 116200
Disease Ontology 12 DOID:0110231
ICD10 33 Q12.0
MedGen 40 C1861828
MeSH 42 D002386

Summaries for Cataract 1, Multiple Types

UniProtKB/Swiss-Prot : 66 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 congenital cataract, nuclear cataract and pulverulent cataract. An important gene associated with Cataract 1, Multiple Types is GJA8 (Gap Junction Protein Alpha 8). The drugs Isosorbide Dinitrate and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include eye and cortex, and related phenotype is vision/eye.

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 : 54 Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been... (116200) more...

Related Diseases for Cataract 1, Multiple Types

Diseases in the Cataract family:

Cataract 8, Multiple Types Cataract 6, Multiple Types
Cataract 34, Multiple Types Cataract 1, Multiple Types
Cataract 39, Multiple Types, Autosomal Dominant Cataract 2, Multiple Types
Cataract 4, Multiple Types Cataract 42
Cataract 18, Autosomal Recessive Cataract 20, Multiple Types
Cataract 41 Cataract 38, Autosomal Recessive
Cataract 26, Multiple Types Cataract 36
Cataract 11, Multiple Types Cataract 16, Multiple Types
Cataract 15, Multiple Types Cataract 14, Multiple Types
Cataract 32, Multiple Types Cataract 25
Cataract 5, Multiple Types Cataract 21, Multiple Types
Cataract 43 Cataract 10, Multiple Types
Cataract 7 Cataract 19
Cataract 33 Cataract 31, Multiple Types
Cataract 9, Multiple Types Cataract 44
Cataract 17, Multiple Types Cataract 3, Multiple Types
Cataract 22, Autosomal Recessive Cataract 23
Cataract 46 Juvenile-Onset Cataract 28
Cataract 37 Cataract 35
Cataract 45 Cataract 19 Multiple Types
Cataract Congenital Autosomal Dominant Cataract, Total Congenital
Cataract 47 Cataract, Autosomal Dominant Congenital 4
Cataracts, Autosomal Recessive Foxe3-Related Cataracts, Autosomal Dominant

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

id Related Disease Score Top Affiliating Genes
1 cataract microcornea syndrome 12.3
2 cataract 9, multiple types 11.0
3 cataract 10.3
4 combined sap deficiency 10.1 GJA3 GJA8
5 tunnel subaortic stenosis 10.1 GJA3 GJA8
6 aceruloplasminemia 10.1 GABRG2 GJA8
7 3-methylcrotonyl-coa carboxylase deficiency 10.0 GABRG2 GJA8
8 deafness, autosomal recessive 1a 9.4 ACHE GABRG2 GJA3 GJA8 HPGDS SNAI2
9 neuroblastoma 6 8.6 ACHE ACKR1 ATP11A GABRG2 GJA3 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 by clinical synopsis from OMIM:

116200

Clinical features from OMIM:

116200

Human phenotypes related to Cataract 1, Multiple Types:

32
id Description HPO Frequency HPO Source Accession
1 congenital cataract 32 HP:0000519
2 nuclear cataract 32 HP:0100018
3 pulverulent cataract 32 HP:0010693

MGI Mouse Phenotypes related to Cataract 1, Multiple Types:

44
id 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

Drugs for Cataract 1, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 85)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isosorbide Dinitrate Approved Phase 4 87-33-2 6883
2
Nitric Oxide Approved Phase 4 10102-43-9 145068
3
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
4
Ethanol Approved Phase 4 64-17-5 702
5 diuretics Phase 4
6 Isosorbide Phase 4
7 isosorbide-5-mononitrate Phase 4
8 Natriuretic Agents Phase 4
9 Nitric Oxide Donors Phase 4
10 Vasodilator Agents Phase 4
11 Analgesics Phase 4
12 Analgesics, Non-Narcotic Phase 4
13 Anti-Inflammatory Agents Phase 4,Phase 3
14 Anti-Inflammatory Agents, Non-Steroidal Phase 4
15 Antirheumatic Agents Phase 4,Phase 1,Phase 2
16 Cyclooxygenase Inhibitors Phase 4
17 Ketorolac Tromethamine Phase 4
18 Peripheral Nervous System Agents Phase 4
19
Melphalan Approved Phase 3 148-82-3 4053 460612
20
Fenofibrate Approved Phase 3 49562-28-9 3339
21
Simvastatin Approved Phase 3 79902-63-9 54454
22
Ciclesonide Approved, Investigational Phase 3 126544-47-6, 141845-82-1 444033
23 Anticholesteremic Agents Phase 3
24 Antimetabolites Phase 3,Phase 1,Phase 2
25 Clofibric Acid Phase 3 882-09-7
26 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
27 Hypoglycemic Agents Phase 3
28 Hypolipidemic Agents Phase 3
29 insulin Phase 3
30 Insulin, Globin Zinc Phase 3
31 Lipid Regulating Agents Phase 3
32 Anti-Allergic Agents Phase 3
33 Anti-Asthmatic Agents Phase 3
34
Beclomethasone Phase 3 4419-39-0 20469
35 glucocorticoids Phase 3
36 Hormone Antagonists Phase 3
37 Hormones Phase 3,Phase 1,Phase 2
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
39 Respiratory System Agents Phase 3
40
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
41
Cyclosporine Approved, Investigational, Vet_approved Phase 1, Phase 2 79217-60-0, 59865-13-3 5284373 6435893
42
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
43
Lenograstim Approved Phase 1, Phase 2 135968-09-1
44
Methotrexate Approved Phase 1, Phase 2 1959-05-2, 59-05-2 126941
45
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
46
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2 128794-94-5 5281078
47
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
48
Phenytoin Approved, Vet_approved Phase 1, Phase 2 57-41-0 1775
49
Vidarabine Approved Phase 1, Phase 2 24356-66-9 32326 21704
50
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037

Interventional clinical trials:

(show all 14)
id Name Status NCT ID Phase
1 Influence of Nitrates on Bone Remodeling and Endothelial Function in Patients With Type 2 Diabetes Mellitus Unknown status NCT02011620 Phase 4
2 Protein Profile of Immunoregulatory Factors in Diabetic Cataract Completed NCT01832311 Phase 4
3 Mechanical vs. Alcohol Separation of the Corneal Epithelium During Surface Ablation Refractive Procedures Completed NCT00366808 Phase 4
4 A Study of Palifermin for the Reduction of Oral Mucositis in Subjects With Multiple Myeloma Completed NCT00434161 Phase 3
5 Evaluating How the Treatments in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) Study Affect Diabetic Retinopathy (The ACCORD Eye Study) Completed NCT00542178 Phase 3
6 Effects Of Ciclesonide And Beclomethasone On Lens Opacification In Adult Subjects With Moderate To Severe Persistent Asthma Completed NCT00254956 Phase 3
7 Busulfan, Fludarabine, and Total-Body Irradiation in Treating Patients Who Are Undergoing a Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00245037 Phase 1, Phase 2
8 Astigmatic Changes Secondary to Eyelid Surgeries Unknown status NCT01968174
9 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
10 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
11 Long-term Topical Cyclosporine for Atopic Keratoconjunctivitis Completed NCT00987467
12 A Randomised Evaluation of Visual Function After Bilateral Implantation of Two Types of Presbyopia-correcting IOLs Recruiting NCT03117426
13 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
14 Revlimid® Capsules Special Drug Use-results Survey (in Patients With Newly-diagnosed Multiple Myeloma [NDMM]) Recruiting NCT02741544

Search NIH Clinical Center for Cataract 1, Multiple Types

Genetic Tests for Cataract 1, Multiple Types

Genetic tests related to Cataract 1, Multiple Types:

id Genetic test Affiliating Genes
1 Zonular Pulverulent Cataract 1 24 GJA8

Anatomical Context for Cataract 1, Multiple Types

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

39
Eye, Cortex

Publications for Cataract 1, Multiple Types

Variations for Cataract 1, Multiple Types

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

66
id 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
id 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.262C> T (p.Pro88Ser) single nucleotide variant Pathogenic rs80358200 GRCh37 Chromosome 1, 147380344: 147380344
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.68G> C (p.Arg23Thr) single nucleotide variant Pathogenic rs80358203 GRCh37 Chromosome 1, 147380150: 147380150
5 GJA8 NM_005267.4(GJA8): c.131T> A (p.Val44Glu) single nucleotide variant Pathogenic rs80358204 GRCh37 Chromosome 1, 147380213: 147380213
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

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 9.16 GJA3 GJA8
2 regulation of transcription from RNA polymerase III promoter 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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