CTRCT3
MCID: CTR132
MIFTS: 33

Cataract 3, Multiple Types (CTRCT3) malady

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

Aliases & Classifications for Cataract 3, Multiple Types

Aliases & Descriptions for Cataract 3, Multiple Types:

Name: Cataract 3, Multiple Types 54 24 66 13
Cataract 3 Multiple Types 12 29 14
Ctrct3 12 66
Cca2 12 66
Cataract 3, Multiple Types, with or Without Microcornea 24
Cataract 3 Multiple Types with or Without Microcornea 12
Sutural Cataract with Punctate and Cerulean Opacities 66
Cataract, Congenital, Cerulean Type, 2 69
Cataract, Congenital, Cerulean Type 2 24
Congenital Cerulean Type Cataract 2 12
Congenital Cataract Blue Dot Type 2 66
Congenital Cataract Cerulean Type 2 66
Cspc 66

Characteristics:

HPO:

32
cataract 3, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 601547
Disease Ontology 12 DOID:0110269
ICD10 33 Q12.0
MedGen 40 C1832175
MeSH 42 D002386

Summaries for Cataract 3, Multiple Types

UniProtKB/Swiss-Prot : 66 Cataract 3, 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. CTRCT3 includes congenital cerulean and sutural cataract with punctate and cerulean opacities, among others. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Sutural cataract with punctate and cerulean opacities is characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects.

MalaCards based summary : Cataract 3, Multiple Types, also known as cataract 3 multiple types, is related to dyskeratosis congenita, autosomal dominant 6 and cataract 19 multiple types, and has symptoms including congenital cataract, sutural cataract and cerulean cataract. An important gene associated with Cataract 3, Multiple Types is CRYBB2 (Crystallin Beta B2). The drugs Ketorolac and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include eye.

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11.

OMIM : 54 Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as... (601547) more...

Related Diseases for Cataract 3, 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 3, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal dominant 6 10.0 OR4Q3 OR5AC2
2 cataract 19 multiple types 9.9 OR4Q3 OR5AC2
3 usher syndrome, type 1g 9.7 GAS1 OR4Q3 OR5AC2
4 hermansky-pudlak syndrome 4 9.1 CRYBB2 GAS1 ITSN2 OR4Q3 OR5AC2 P2RX1

Symptoms & Phenotypes for Cataract 3, Multiple Types

Clinical features from OMIM:

601547

Human phenotypes related to Cataract 3, Multiple Types:

32
id Description HPO Frequency HPO Source Accession
1 congenital cataract 32 HP:0000519
2 sutural cataract 32 HP:0010695
3 cerulean cataract 32 HP:0007976

Drugs & Therapeutics for Cataract 3, Multiple Types

Drugs for Cataract 3, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 88)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
2
Ethanol Approved Phase 4 64-17-5 702
3
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 1,Phase 2 128794-94-5 5281078
6
Mycophenolic acid Approved Phase 4,Phase 1,Phase 2 24280-93-1 446541
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
9
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
10 Analgesics Phase 4
11 Analgesics, Non-Narcotic Phase 4
12 Anti-Inflammatory Agents Phase 4,Phase 3
13 Anti-Inflammatory Agents, Non-Steroidal Phase 4
14 Antirheumatic Agents Phase 4,Phase 1,Phase 2
15 Cyclooxygenase Inhibitors Phase 4
16 Ketorolac Tromethamine Phase 4
17 Peripheral Nervous System Agents Phase 4
18 Anti-Bacterial Agents Phase 4,Phase 1,Phase 2
19 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2
20 Antibodies Phase 4,Phase 1,Phase 2
21 Antibodies, Monoclonal Phase 4
22 Antiemetics Phase 4
23 Antineoplastic Agents, Hormonal Phase 4
24 Autonomic Agents Phase 4
25 Calcineurin Inhibitors Phase 4,Phase 1,Phase 2
26 Gastrointestinal Agents Phase 4
27 glucocorticoids Phase 4,Phase 3
28 Hormone Antagonists Phase 4,Phase 3
29 Hormones Phase 4,Phase 3,Phase 1,Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
31 Immunoglobulins Phase 4,Phase 1,Phase 2
32 Immunosuppressive Agents Phase 4,Phase 1,Phase 2
33 Methylprednisolone acetate Phase 4
34 Methylprednisolone Hemisuccinate Phase 4
35 Neuroprotective Agents Phase 4
36 Prednisolone acetate Phase 4
37 Prednisolone hemisuccinate Phase 4
38 Prednisolone phosphate Phase 4
39 Protective Agents Phase 4
40
Melphalan Approved Phase 3 148-82-3 4053 460612
41
Fenofibrate Approved Phase 3 49562-28-9 3339
42
Simvastatin Approved Phase 3 79902-63-9 54454
43
Ciclesonide Approved, Investigational Phase 3 126544-47-6, 141845-82-1 444033
44 Anticholesteremic Agents Phase 3
45 Antimetabolites Phase 3,Phase 1,Phase 2
46 Clofibric Acid Phase 3 882-09-7
47 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
48 Hypoglycemic Agents Phase 3
49 Hypolipidemic Agents Phase 3
50 insulin Phase 3

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 Protein Profile of Immunoregulatory Factors in Diabetic Cataract Completed NCT01832311 Phase 4
2 Mechanical vs. Alcohol Separation of the Corneal Epithelium During Surface Ablation Refractive Procedures Completed NCT00366808 Phase 4
3 Phase IV Study to Evaluate Calcineurin Inhibitor Reduced, Steroid Free Immunosuppression After Renal Transplantation Completed NCT00724022 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 Modified Bone Marrow Stem Cell Transplantation for Chronic Myelogenous Leukemia Completed NCT00001144 Phase 2
9 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
10 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
11 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cataract 3, Multiple Types

Genetic Tests for Cataract 3, Multiple Types

Genetic tests related to Cataract 3, Multiple Types:

id Genetic test Affiliating Genes
1 Cataract 3, Multiple Types 29 24 CRYBB2

Anatomical Context for Cataract 3, Multiple Types

MalaCards organs/tissues related to Cataract 3, Multiple Types:

39
Eye

Publications for Cataract 3, Multiple Types

Variations for Cataract 3, Multiple Types

ClinVar genetic disease variations for Cataract 3, Multiple Types:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CRYBB2 NM_000496.2(CRYBB2): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs74315489 GRCh37 Chromosome 22, 25627584: 25627584
2 CRYBB2 CRYBB2, 483C-T single nucleotide variant Pathogenic

Expression for Cataract 3, Multiple Types

Search GEO for disease gene expression data for Cataract 3, Multiple Types.

Pathways for Cataract 3, Multiple Types

GO Terms for Cataract 3, Multiple Types

Biological processes related to Cataract 3, Multiple Types according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 8.8 CRYBB2 OR4Q3 OR5AC2

Sources for Cataract 3, 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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