CTRCT23
MCID: CTR134
MIFTS: 27

Cataract 23 (CTRCT23) malady

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

Aliases & Classifications for Cataract 23

Aliases & Descriptions for Cataract 23:

Name: Cataract 23 54 12 24 66 29 69
Ctrct23 12 24 66
Lamellar Cataract 23 12 66
Microphthalmia, Isolated, with Cataract 4 69
Isolated Microphthalmia with Cataract 4 66
Cataract 23, Lamellar 24
Mcopct4 66

Characteristics:

HPO:

32
cataract 23:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 610425
Disease Ontology 12 DOID:0110271
ICD10 33 Q12.0
MedGen 40 C1864879
MeSH 42 D002386

Summaries for Cataract 23

UniProtKB/Swiss-Prot : 66 Cataract 23: 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT23 is a zonular 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.

MalaCards based summary : Cataract 23, is also known as ctrct23, and has symptoms including lamellar cataract An important gene associated with Cataract 23 is CRYBA4 (Crystallin Beta A4). The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include eye and cortex.

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12.

OMIM : 54 Mutation in the CRYBA4 gene has been found in families with cataract described as congenital and congenital... (610425) more...

Symptoms & Phenotypes for Cataract 23

Clinical features from OMIM:

610425

Human phenotypes related to Cataract 23:

32
id Description HPO Frequency HPO Source Accession
1 lamellar cataract 32 HP:0007971

Drugs & Therapeutics for Cataract 23

Drugs for Cataract 23 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 94)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
3
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
4 Antiemetics Phase 4,Phase 3
5 Anti-Inflammatory Agents Phase 4,Phase 3
6 Antineoplastic Agents, Hormonal Phase 4,Phase 3
7 Autonomic Agents Phase 4,Phase 3
8 Gastrointestinal Agents Phase 4,Phase 3
9 glucocorticoids Phase 4,Phase 3
10 Hormone Antagonists Phase 4,Phase 3
11 Hormones Phase 4,Phase 3,Phase 1,Phase 2
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
13 Immunosuppressive Agents Phase 4,Phase 1,Phase 2
14 Methylprednisolone acetate Phase 4
15 Methylprednisolone Hemisuccinate Phase 4
16 Neuroprotective Agents Phase 4
17 Ophthalmic Solutions Phase 4,Phase 3
18 Peripheral Nervous System Agents Phase 4,Phase 3
19 Prednisolone acetate Phase 4
20 Prednisolone hemisuccinate Phase 4
21 Prednisolone phosphate Phase 4
22 Protective Agents Phase 4
23 Tetrahydrozoline Phase 4,Phase 3
24 triamcinolone acetonide Phase 4
25 Triamcinolone diacetate Phase 4
26 Triamcinolone hexacetonide Phase 4
27
Ephedrine Approved Phase 3 299-42-3 9294
28
Ketorolac Approved Phase 3 74103-06-3, 66635-83-4 3826
29
Nepafenac Approved Phase 3 78281-72-8 151075
30
Pseudoephedrine Approved Phase 3 90-82-4 7028
31
Menthol Approved Phase 3 2216-51-5 16666
32
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
33
Tobramycin Approved, Investigational Phase 3 32986-56-4 5496 36294
34 Analgesics Phase 3
35 Analgesics, Non-Narcotic Phase 3
36 Anti-Inflammatory Agents, Non-Steroidal Phase 3
37 Antirheumatic Agents Phase 3,Phase 1,Phase 2
38 Cyclooxygenase Inhibitors Phase 3
39 Ketorolac Tromethamine Phase 3
40 Nasal Decongestants Phase 3
41 Pharmaceutical Solutions Phase 3
42 Respiratory System Agents Phase 3
43 Vasoconstrictor Agents Phase 3
44 Anti-Bacterial Agents Phase 3,Phase 1,Phase 2
45 Anti-Infective Agents Phase 3,Phase 1,Phase 2
46 BB 1101 Phase 3
47 Dexamethasone 21-phosphate Phase 3
48 Dexamethasone acetate Phase 3 1177-87-3
49 HIV Protease Inhibitors Phase 3
50
protease inhibitors Phase 3

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 IntraVitreal Triamcinolone Acetonide: Preventing Raised Eye-pressure by Tracking Elevations After Topical Steroids Unknown status NCT00744666 Phase 4
2 Efficacy of a Capsular Tension Ring in Preventing Anterior Capsule Shrinkage After Cataract Surgery in Exfoliation Syndrome Unknown status NCT01455168 Phase 3
3 Nepafenac 0.1% Eye Drops, Suspension Compared to Ketorolac Trometamol 0.5% Eye Drops, Solution and Placebo Completed NCT00405730 Phase 3
4 Economic Evaluation of Femtosecond Laser Assisted Cataract Surgery Completed NCT01982006 Phase 3
5 A Bioequivalence Study of Tobradex AF Completed NCT00362895 Phase 3
6 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
7 Do Blue-Blocking Lenses Block Blue Colour From Our Lives? Unknown status NCT00403143
8 Serum and Intraocular Levels of Erythropoietin and VEGF in Type 2 Diabetes Patients With Proliferative Retinopathy Completed NCT01871207
9 Elongation of Foveal Tissue After Macular Hole Surgery Completed NCT01471912
10 Microincision Versus Smallincision Combined Surgery Recruiting NCT01198483
11 Randomized Trial Comparing Epiretinal Membrane Surgery With and Without Internal Limiting Membrane Removal Recruiting NCT01532765
12 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
13 Assessing Ocular Hemodynamic Response to Surgical Intervention in Glaucoma Not yet recruiting NCT02891317

Search NIH Clinical Center for Cataract 23

Genetic Tests for Cataract 23

Genetic tests related to Cataract 23:

id Genetic test Affiliating Genes
1 Cataract 23 29 24 CRYBA4

Anatomical Context for Cataract 23

MalaCards organs/tissues related to Cataract 23:

39
Eye, Cortex

Publications for Cataract 23

Variations for Cataract 23

UniProtKB/Swiss-Prot genetic disease variations for Cataract 23:

66
id Symbol AA change Variation ID SNP ID
1 CRYBA4 p.Leu69Pro VAR_029528 rs74315487
2 CRYBA4 p.Phe94Ser VAR_029529 rs74315486

ClinVar genetic disease variations for Cataract 23:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CRYBA4 NM_001886.2(CRYBA4): c.281T> C (p.Phe94Ser) single nucleotide variant Pathogenic rs74315486 GRCh37 Chromosome 22, 27021567: 27021567
2 CRYBA4 NM_001886.2(CRYBA4): c.206T> C (p.Leu69Pro) single nucleotide variant Pathogenic rs74315487 GRCh37 Chromosome 22, 27021492: 27021492

Expression for Cataract 23

Search GEO for disease gene expression data for Cataract 23.

Pathways for Cataract 23

GO Terms for Cataract 23

Sources for Cataract 23

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
Content
Loading form....