CTRCT3
MCID: CTR132
MIFTS: 40

Cataract 3, Multiple Types (CTRCT3)

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

Aliases & Classifications for Cataract 3, Multiple Types

MalaCards integrated aliases for Cataract 3, Multiple Types:

Name: Cataract 3, Multiple Types 56 73 29 13 6
Ctrct3 56 12 73
Cca2 56 12 73
Cataract, Congenital, Cerulean Type, 2 56 71
Cataract 3 Multiple Types 12 15
Cataract 3, Multiple Types, with or Without Microcornea 56
Cataract 3 Multiple Types with or Without Microcornea 12
Sutural Cataract with Punctate and Cerulean Opacities 73
Cataract, Congenital, Cerulean Type, 2; Cca2 56
Congenital Cerulean Type Cataract 2 12
Congenital Cataract Blue Dot Type 2 73
Congenital Cataract Cerulean Type 2 73
Cspc 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
intra- and inter familial phenotypic variability, interocular asymmetry, and variable progression


HPO:

31
cataract 3, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110269
OMIM 56 601547
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
MedGen 41 C1832175
UMLS 71 C1832175

Summaries for Cataract 3, Multiple Types

UniProtKB/Swiss-Prot : 73 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 ctrct3, is related to cardiomyopathy, familial hypertrophic, 10 and survival motor neuron spinal muscular atrophy. An important gene associated with Cataract 3, Multiple Types is CRYBB2 (Crystallin Beta B2), and among its related pathways/superpathways is GPCRs, Other. The drugs Metformin and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include eye, prostate and testes, and related phenotypes are cerulean cataract and developmental cataract

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

OMIM : 56 Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal. Before it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2. (601547)

Related Diseases for Cataract 3, 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 48 Cataract 30
Cataract 33 Cataract Congenital Autosomal Dominant
Cataract, Total Congenital

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

# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 10 10.0 PPP3CA FBN2
2 survival motor neuron spinal muscular atrophy 9.7 OR6C3 OR6C2
3 spinal muscular atrophy, type iii 9.5 OR6C3 OR6C2 OR4Q3
4 cataract 37 9.0 TRNT1 OR6C3 OR6C2 OR5AC2 OR4Q3 FBN2
5 cataract 21, multiple types 8.3 TRNT1 PRB4 PRB3 OR6C3 OR6C2 OR5AC2

Graphical network of the top 20 diseases related to Cataract 3, Multiple Types:



Diseases related to Cataract 3, Multiple Types

Symptoms & Phenotypes for Cataract 3, Multiple Types

Human phenotypes related to Cataract 3, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 cerulean cataract 31 obligate (100%) HP:0007976
2 developmental cataract 31 HP:0000519
3 sutural cataract 31 HP:0010695
4 nuclear pulverulent cataract 31 HP:0010698

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cerulean cataract
coppock-like cataract
sutural cataract with punctate and cerulean opacities
pulverulent embryonal cataract
pulverulent cortical opacities
more

Clinical features from OMIM:

601547

Drugs & Therapeutics for Cataract 3, Multiple Types

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 2 657-24-9 14219 4091
2
Glucagon Approved Phase 2 16941-32-5
3
carbamide peroxide Approved Phase 2 124-43-6
4
Exenatide Approved, Investigational Phase 2 141758-74-9 15991534
5 Hormones Phase 2
6 Incretins Phase 2
7 Anti-Obesity Agents Phase 2
8 Hormone Antagonists Phase 2
9 Hypoglycemic Agents Phase 2
10 Glucagon-Like Peptide 1 Phase 2
11
Amlodipine Approved Phase 1 88150-42-9 2162
12
Nicotinamide Approved, Investigational Phase 1 98-92-0 936
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
14
Niacin Approved, Investigational, Nutraceutical Phase 1 59-67-6 938
15
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
16
Maleic acid Experimental, Investigational Phase 1 110-17-8, 110-16-7 444972
17 Trace Elements Phase 1
18 Antihypertensive Agents Phase 1
19 Micronutrients Phase 1
20 Vitamins Phase 1
21 Vitamin B Complex Phase 1
22 Hypolipidemic Agents Phase 1
23 Vitamin B3 Phase 1
24 Nutrients Phase 1
25 Vasodilator Agents Phase 1
26 Vitamin B9 Phase 1
27 Folate Phase 1
28 Calcium, Dietary Phase 1
29 calcium channel blockers Phase 1
30 Lipid Regulating Agents Phase 1
31 Nicotinic Acids Phase 1
32 Antimetabolites Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Double-blind Study to Assess the Use of TDP© Heat-lamp as an Effective Therapy for Tennis Elbow Pain (Lateral Epicondylitis Pain) Terminated NCT00725023 Phase 2, Phase 3
2 The Safety, Preliminary Pharmacodynamics and Pharmacokinetics Study of rExenatide-4 in Chinese T2DM Unknown status NCT01342042 Phase 2
3 A Randomized, Open-label, Single-Dose, Two-Way Crossover Study to Assess the Relative Bioavailability of 5 mg of Levamlodipine Maleate Tablets Versus 10 mg of Amlodipine Besylate Tablet (NORVASC® From Pfizer Inc.) in Healthy Subjects Followed by a Phase to Study Food Effect on the PK Profile of Levamlodipine Completed NCT03657550 Phase 1 Levamlodipine Malate Tablets;Amlodipine Besylate Tablets
4 Test-Retest Reproducibility of 18F-DCFPyL PET/CT in the Evaluation of Patients With Metastatic Prostate Cancer - an Interscan Variability and Intraobserver Agreement Study Recruiting NCT03793543 Phase 1 18F-DCFPyL Injection

Search NIH Clinical Center for Cataract 3, Multiple Types

Genetic Tests for Cataract 3, Multiple Types

Genetic tests related to Cataract 3, Multiple Types:

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

Anatomical Context for Cataract 3, Multiple Types

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

40
Eye, Prostate, Testes, Whole Blood, Heart, Liver, Pituitary

Publications for Cataract 3, Multiple Types

Articles related to Cataract 3, Multiple Types:

(show all 37)
# Title Authors PMID Year
1
Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. 56 6
17234267 2007
2
A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. 56 6
11424921 2001
3
Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. 56 6
10634616 2000
4
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. 56 6
9158139 1997
5
A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. 56 6
8812489 1996
6
Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts. 56 6
2240043 1990
7
The genetics of cataract: our vision becomes clearer. 56
9497271 1998
8
Antifungal effect of photodynamic therapy mediated by curcumin on Candida albicans biofilms in vitro. 61
31233886 2019
9
Phylogeny and distribution of Bradyrhizobium symbionts nodulating cowpea (Vigna unguiculata L. Walp) and their association with the physicochemical properties of acidic African soils. 61
30803810 2019
10
Schizosaccharomyces pombe contains separate CC- and A-adding tRNA nucleotidyltransferases. 61
30528393 2019
11
An efficient heterogeneous signcryption for smart grid. 61
30562351 2018
12
JQ1 Induces DNA Damage and Apoptosis, and Inhibits Tumor Growth in a Patient-Derived Xenograft Model of Cholangiocarcinoma. 61
29142067 2018
13
Linking mesohabitat selection and ecological traits of a fish assemblage in a small tropical stream (Tinggi River, Pahang Basin) of the Malay Peninsula. 61
23480377 2013
14
Molecular structure and spectroscopic studies on novel complexes of coumarin-3-carboxylic acid with Ni(II), Co(II), Zn(II) and Mn(II) ions based on density functional theory. 61
21996590 2011
15
Ranolazine reduces Ca2+ overload and oxidative stress and improves mitochondrial integrity to protect against ischemia reperfusion injury in isolated hearts. 61
21741479 2011
16
Calcium-corrected intact PTH: a clinically useful parameter for quantifying parathyroid function in patients undergoing hemodialysis. 61
20173350 2010
17
Clinical and statistical evaluation of 1st Automatic: a pilot study. 61
19745338 2009
18
A major role for P2X1 receptors in the early collagen-evoked intracellular Ca2+ responses of human platelets. 61
16113781 2005
19
Xenoestrogens at picomolar to nanomolar concentrations trigger membrane estrogen receptor-alpha-mediated Ca2+ fluxes and prolactin release in GH3/B6 pituitary tumor cells. 61
15811834 2005
20
Relation between blood pH and ionized calcium during acute metabolic alteration of the acid-base balance in vivo. 61
9249879 1997
21
Isolation of a novel cDNA whose corresponding mRNA is accumulated in growth-arrested confluent but not in growing sub-confluent rat 3Y1 cells. 61
9199244 1997
22
Cca3, the mRNA level of which transiently decreases before initiation of DNA synthesis in regenerating rat liver cells. 61
9109406 1997
23
Altered calcium homeostasis in the rat cochlear duct and endogenous corticosteroid insufficiency. 61
9151013 1997
24
Measurement of ionized magnesium with AVL 988/4 electrolyte analyzer: preliminary analytical and clinical results. 61
8865442 1996
25
The Ca(2+)-standardization of Japan only may cause problems for the importation of foreign analyzers. 61
8865429 1996
26
Ca(2+)-induced lateral phase separation in black lipid membranes and its coupling to the ion translocation by gramicidin. 61
7692968 1993
27
International Federation of Clinical Chemistry (IFCC), scientific division: IFCC recommendation on sampling transport and storage for the determination of the concentration of ionized calcium in whole blood, plasma and serum. 61
1782285 1991
28
Ionized calcium in blood: studies on patients with pulmonary disease. 61
1910074 1991
29
International Federation of Clinical Chemistry (IFCC) scientific division IFCC recommendation. Recommendation on sampling, transport and storage for the determination of the concentration of ionized calcium in whole blood, plasma and serum. 61
1776715 1991
30
Effects of erythrocytes, bicarbonate, temperature and albumin on in vitro ionized calcium variations with pH. 61
2595242 1989
31
Ionized calcium and acid-base status in arterial and venous whole blood during general anaesthesia. 61
3358094 1988
32
Actual ionized calcium and pH in blood collected in capillary or evacuated tubes. 61
3952443 1986
33
Sampling and storage of blood for determination of ionized calcium. 61
3923606 1985
34
The concentration of free calcium ions in capillary blood from neonates on a routine basis using the ICA 1. 61
6701447 1984
35
The effect of temperature on plasma ionized calcium measured in whole blood in vitro. 61
6665519 1983
36
Evaluation of a new semiautomatic electrode system for simultaneous measurement of ionized calcium and pH. 61
7156853 1982
37
The concentration of free calcium ions and total calcium in pregnancies at term. 61
7134811 1982

Variations for Cataract 3, Multiple Types

ClinVar genetic disease variations for Cataract 3, Multiple Types:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRYBB2 NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg)SNV Pathogenic 242473 rs864309698 22:25625451-25625451 22:25229484-25229484
2 CRYBB2 NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter)SNV Pathogenic 16949 rs74315489 22:25627584-25627584 22:25231617-25231617
3 CRYBB2 CRYBB2, 483C-TSNV Pathogenic 16950
4 CRYBB2 NM_000496.3(CRYBB2):c.563G>A (p.Arg188His)SNV Pathogenic/Likely pathogenic 280142 rs886041410 22:25627684-25627684 22:25231717-25231717
5 CRYBB2 NM_000496.3(CRYBB2):c.551T>G (p.Val184Gly)SNV Likely pathogenic 463971 rs1555889308 22:25627672-25627672 22:25231705-25231705
6 CRYBB2 NM_000496.3(CRYBB2):c.161T>G (p.Val54Gly)SNV Likely pathogenic 463969 rs1555888762 22:25620991-25620991 22:25225024-25225024
7 CRYBB2 NM_000496.3(CRYBB2):c.242G>A (p.Arg81His)SNV Uncertain significance 463970 rs146763276 22:25623888-25623888 22:25227921-25227921
8 CRYBB2 NM_000496.3(CRYBB2):c.481G>C (p.Gly161Arg)SNV Uncertain significance 571643 rs1569022638 22:25627602-25627602 22:25231635-25231635
9 CRYBB2 NM_000496.3(CRYBB2):c.193G>T (p.Ala65Ser)SNV Benign 256281 rs16986560 22:25623839-25623839 22:25227872-25227872

Expression for Cataract 3, Multiple Types

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

Pathways for Cataract 3, Multiple Types

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

# Super pathways Score Top Affiliating Genes
1 10.81 OR6C3 OR6C2 OR5AC2

GO Terms for Cataract 3, Multiple Types

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

# Name GO ID Score Top Affiliating Genes
1 detection of chemical stimulus involved in sensory perception of smell GO:0050911 9.46 OR6C3 OR6C2 OR5AC2 OR4Q3
2 sensory perception of smell GO:0007608 9.26 OR6C3 OR6C2 OR5AC2 OR4Q3
3 response to stimulus GO:0050896 9.02 OR6C3 OR6C2 OR5AC2 OR4Q3 CRYBB2

Molecular functions related to Cataract 3, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 olfactory receptor activity GO:0004984 8.92 OR6C3 OR6C2 OR5AC2 OR4Q3

Sources for Cataract 3, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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