CTRCT4
MCID: CTR103
MIFTS: 39

Cataract 4, Multiple Types (CTRCT4) malady

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

Aliases & Classifications for Cataract 4, Multiple Types

Aliases & Descriptions for Cataract 4, Multiple Types:

Name: Cataract 4, Multiple Types 54 66 13 69
Congenital Cataract Cerulean Type 3 12 66
Cataract 4 Multiple Types 12 14
Ctrct4 12 66
Cca3 12 66
Cataract 4, Multiple Types, with or Without Microcornea 66
Cataract 4 Multiple Types with or Without Microcornea 12
Punctate, Progressive Juvenile-Onset, Cataract 66
Congenital Non-Nuclear Polymorphic Cataract 66
Cataract, Congenital, Cerulean Type, 3 69
Congenital Cataract Blue Dot Type 3 66
Crystalline Aculeiform Cataract 66
Aculeiform Cataract 66
Caca 66
Ccp 66
Pcc 66

Characteristics:

HPO:

32
cataract 4, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 115700
Disease Ontology 12 DOID:0110234
ICD10 33 Q12.0
MeSH 42 D002386

Summaries for Cataract 4, Multiple Types

UniProtKB/Swiss-Prot : 66 Cataract 4, 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. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non- nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital 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.

MalaCards based summary : Cataract 4, Multiple Types, also known as congenital cataract cerulean type 3, is related to pheochromocytoma and palindromic rheumatism, and has symptoms including congenital cataract An important gene associated with Cataract 4, Multiple Types is CRYGD (Crystallin Gamma D), and among its related pathways/superpathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Citrate cycle (TCA cycle). The drugs Isosorbide Dinitrate and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are Decreased viability and neoplasm

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.

OMIM : 54 Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as... (115700) more...

Related Diseases for Cataract 4, 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 4, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
id Related Disease Score Top Affiliating Genes
1 pheochromocytoma 31.4 RET SDHB SDHD TMEM127 VHL
2 palindromic rheumatism 11.2
3 propionicacidemia 11.0
4 cataract, autosomal dominant congenital 4 10.9
5 phaeochromocytoma 10.8
6 cataract congenital dominant non nuclear 10.8
7 microcephaly 1, primary, autosomal recessive 10.8
8 arthritis 10.4
9 rheumatoid arthritis 10.4
10 cataract 10.1
11 neuropathy, congenital, with arthrogryposis multiplex 10.1 SDHB SDHD
12 paraganglioma and gastric stromal sarcoma 10.1 SDHB SDHD
13 glioma susceptibility 2 10.1 SDHB SDHD
14 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.0 SDHB SDHD
15 serous surface papilloma 10.0 SDHB SDHD
16 glomangioma 10.0 SDHB SDHD
17 glycogen storage disease ic 10.0 SDHB SDHD
18 neurofibromatosis-noonan syndrome 10.0 SDHB SDHD
19 endocrine gland cancer 10.0 RET SDHD
20 lumbar spinal canal and spinal cord meningioma 9.9 SDHB SDHD
21 intravenous leiomyomatosis 9.9 RET SDHB SDHD
22 endocervical adenocarcinoma 9.9 RET SDHB SDHD
23 central hypoventilation syndrome, congenital 9.9 RET SDHB SDHD
24 childhood teratocarcinoma of the testis 9.9 RET SDHB SDHD
25 leukemia, acute promyelocytic, somatic 9.9 RET SDHB SDHD
26 benign shuddering attacks 9.9 RET SDHB SDHD
27 brucellosis 9.9
28 lung disease 9.9
29 carotenemia 9.9 SDHB SDHD TMEM127
30 muscular dystrophy 9.8
31 becker muscular dystrophy 9.8
32 lupus erythematosus 9.8
33 synovitis 9.8
34 interstitial lung disease 9.8
35 atherosclerosis 9.8
36 aneurysm 9.7 RET SDHB VHL
37 sarcomatoid renal cell carcinoma 9.7 TMEM127 VHL
38 cardiac arrest 9.7 RET SDHB SDHD TMEM127
39 hepatitis 9.6
40 tonsillitis 9.6
41 nasopharyngitis 9.6
42 discoid lupus erythematosus 9.6
43 rheumatic disease 9.6
44 hepatitis c 9.6
45 lung cancer 9.6
46 hepatitis c virus 9.6
47 cryoglobulinemia 9.6
48 arthropathy 9.6
49 connective tissue disease 9.6
50 thyroiditis 9.6

Graphical network of the top 20 diseases related to Cataract 4, Multiple Types:



Diseases related to Cataract 4, Multiple Types

Symptoms & Phenotypes for Cataract 4, Multiple Types

Symptoms by clinical synopsis from OMIM:

115700

Clinical features from OMIM:

115700

Human phenotypes related to Cataract 4, Multiple Types:

32
id Description HPO Frequency HPO Source Accession
1 congenital cataract 32 HP:0000519

GenomeRNAi Phenotypes related to Cataract 4, Multiple Types according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.03 SDHD VHL RET
2 Decreased viability GR00221-A-2 10.03 SDHD VHL RET
3 Decreased viability GR00221-A-4 10.03 SDHD RET
4 Decreased viability GR00231-A 10.03 RET
5 Decreased viability GR00301-A 10.03 VHL RET
6 Decreased viability GR00381-A-1 10.03 SDHD
7 Increased mitotic index GR00110-A-0 8.62 RET SDHD

MGI Mouse Phenotypes related to Cataract 4, Multiple Types:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 RET SDHB SDHD VHL

Drugs & Therapeutics for Cataract 4, Multiple Types

Drugs for Cataract 4, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 89)
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
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
7
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 1,Phase 2 128794-94-5 5281078
8
Mycophenolic acid Approved Phase 4,Phase 1,Phase 2 24280-93-1 446541
9
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
10
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
11
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
12 diuretics Phase 4
13 Isosorbide Phase 4
14 isosorbide-5-mononitrate Phase 4
15 Natriuretic Agents Phase 4
16 Nitric Oxide Donors Phase 4
17 Vasodilator Agents Phase 4
18 Analgesics Phase 4
19 Analgesics, Non-Narcotic Phase 4
20 Anti-Inflammatory Agents Phase 4,Phase 3
21 Anti-Inflammatory Agents, Non-Steroidal Phase 4
22 Antirheumatic Agents Phase 4,Phase 1,Phase 2
23 Cyclooxygenase Inhibitors Phase 4
24 Ketorolac Tromethamine Phase 4
25 Peripheral Nervous System Agents Phase 4
26 Anti-Bacterial Agents Phase 4,Phase 1,Phase 2
27 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2
28 Antibodies Phase 4,Phase 1,Phase 2
29 Antibodies, Monoclonal Phase 4
30 Antiemetics Phase 4
31 Antineoplastic Agents, Hormonal Phase 4
32 Autonomic Agents Phase 4
33 Calcineurin Inhibitors Phase 4,Phase 1,Phase 2
34 Gastrointestinal Agents Phase 4
35 glucocorticoids Phase 4,Phase 3
36 Hormone Antagonists Phase 4,Phase 3
37 Hormones Phase 4,Phase 3,Phase 1,Phase 2
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
39 Immunoglobulins Phase 4,Phase 1,Phase 2
40 Immunosuppressive Agents Phase 4,Phase 1,Phase 2
41 Methylprednisolone acetate Phase 4
42 Methylprednisolone Hemisuccinate Phase 4
43 Neuroprotective Agents Phase 4
44 Prednisolone acetate Phase 4
45 Prednisolone hemisuccinate Phase 4
46 Prednisolone phosphate Phase 4
47 Protective Agents Phase 4
48
Melphalan Approved Phase 3 148-82-3 4053 460612
49
Ciclesonide Approved, Investigational Phase 3 126544-47-6, 141845-82-1 444033
50 Anti-Allergic Agents Phase 3

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 A Intra-patient Comparison of Closed Loop and Plate Haptic Toric Intraocular Lenses Unknown status NCT02264457 Phase 4
2 Influence of Nitrates on Bone Remodeling and Endothelial Function in Patients With Type 2 Diabetes Mellitus Unknown status NCT02011620 Phase 4
3 Clinical Investigation of the Bi Flex M Multifocal IOL Unknown status NCT02338882 Phase 4
4 Protein Profile of Immunoregulatory Factors in Diabetic Cataract Completed NCT01832311 Phase 4
5 Mechanical vs. Alcohol Separation of the Corneal Epithelium During Surface Ablation Refractive Procedures Completed NCT00366808 Phase 4
6 Phase IV Study to Evaluate Calcineurin Inhibitor Reduced, Steroid Free Immunosuppression After Renal Transplantation Completed NCT00724022 Phase 4
7 A Study of Palifermin for the Reduction of Oral Mucositis in Subjects With Multiple Myeloma Completed NCT00434161 Phase 3
8 Effects Of Ciclesonide And Beclomethasone On Lens Opacification In Adult Subjects With Moderate To Severe Persistent Asthma Completed NCT00254956 Phase 3
9 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
10 Long-term Topical Cyclosporine for Atopic Keratoconjunctivitis Completed NCT00987467
11 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cataract 4, Multiple Types

Genetic Tests for Cataract 4, Multiple Types

Anatomical Context for Cataract 4, Multiple Types

MalaCards organs/tissues related to Cataract 4, Multiple Types:

39
Eye

Publications for Cataract 4, Multiple Types

Variations for Cataract 4, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 4, Multiple Types:

66
id Symbol AA change Variation ID SNP ID
1 CRYGD p.Arg15Cys VAR_010733 rs121909595
2 CRYGD p.Arg37Ser VAR_010734 rs121909597
3 CRYGD p.Arg59His VAR_010735 rs121909596
4 CRYGD p.Pro24Thr VAR_021145 rs28931605
5 CRYGD p.Pro24Ser VAR_034955 rs28931605
6 CRYGD p.Glu107Ala VAR_034956
7 CRYGD p.Trp43Arg VAR_064829

ClinVar genetic disease variations for Cataract 4, Multiple Types:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CRYGD NM_006891.3(CRYGD): c.43C> T (p.Arg15Cys) single nucleotide variant Pathogenic rs121909595 GRCh37 Chromosome 2, 208989045: 208989045
2 CRYGD NM_006891.3(CRYGD): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs121909596 GRCh37 Chromosome 2, 208988912: 208988912
3 CRYGD NM_006891.3(CRYGD): c.109C> A (p.Arg37Ser) single nucleotide variant Pathogenic rs121909597 GRCh37 Chromosome 2, 208988979: 208988979
4 CRYGD NM_006891.3(CRYGD): c.70C> A (p.Pro24Thr) single nucleotide variant Pathogenic rs28931605 GRCh37 Chromosome 2, 208989018: 208989018
5 CRYGD NM_006891.3(CRYGD): c.470G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs121909598 GRCh37 Chromosome 2, 208986452: 208986452
6 CRYGD NM_006891.3(CRYGD): c.70C> T (p.Pro24Ser) single nucleotide variant Pathogenic rs28931605 GRCh37 Chromosome 2, 208989018: 208989018
7 CRYGD NM_006891.3(CRYGD): c.402C> A (p.Tyr134Ter) single nucleotide variant Pathogenic rs398122948 GRCh37 Chromosome 2, 208986520: 208986520

Expression for Cataract 4, Multiple Types

Search GEO for disease gene expression data for Cataract 4, Multiple Types.

Pathways for Cataract 4, Multiple Types

GO Terms for Cataract 4, Multiple Types

Cellular components related to Cataract 4, Multiple Types according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.62 SDHB SDHD

Biological processes related to Cataract 4, Multiple Types according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 tricarboxylic acid cycle GO:0006099 8.62 SDHB SDHD

Molecular functions related to Cataract 4, Multiple Types according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 electron carrier activity GO:0009055 9.16 SDHB SDHD
2 ubiquinone binding GO:0048039 8.96 SDHB SDHD
3 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.62 SDHB SDHD

Sources for Cataract 4, 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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