CTRCT3
MCID: CTR132
MIFTS: 41

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 57 72 29 13 6
Ctrct3 57 12 72
Cca2 57 12 72
Cataract, Congenital, Cerulean Type, 2 57 70
Cataract 3 Multiple Types 12 15
Cataract 3, Multiple Types, with or Without Microcornea 57
Cataract 3 Multiple Types with or Without Microcornea 12
Sutural Cataract with Punctate and Cerulean Opacities 72
Cataract, Congenital, Cerulean Type, 2; Cca2 57
Congenital Cerulean Type Cataract 2 12
Congenital Cataract Blue Dot Type 2 72
Congenital Cataract Cerulean Type 2 72
Cspc 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 601547
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
MedGen 41 C1832175
UMLS 70 C1832175

Summaries for Cataract 3, Multiple Types

UniProtKB/Swiss-Prot : 72 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 cataract 4, multiple types and spinal muscular atrophy, type i. An important gene associated with Cataract 3, Multiple Types is CRYBB2 (Crystallin Beta B2), and among its related pathways/superpathways are Ca, cAMP and Lipid Signaling and GPCRs, Other. The drugs Irinotecan and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include eye, whole blood and pituitary, 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® : 57 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) (Updated 20-May-2021)

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 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 cataract 4, multiple types 9.8 TRNT1 PRB4 OR5AC2
2 spinal muscular atrophy, type i 9.7 OR6C3 OR6C2
3 myopathy with extrapyramidal signs 9.7 RHOT1 MICU2 MICU1 MCU
4 spinal muscular atrophy, type iv 9.6 OR6C3 OR6C2
5 spinal muscular atrophy, type ii 9.6 OR6C3 OR6C2
6 spinal muscular atrophy, type iii 9.5 OR6C3 OR6C2
7 cataract 37 9.4 TRNT1 OR6C3 OR6C2 OR5AC2
8 cataract 21, multiple types 9.1 TRNT1 PRB4 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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.66 RHOT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.66 CRYBB2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.66 MICU2 RHOT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.66 MICU2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.66 MICU2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.66 MICU2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.66 MICU2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.66 RHOT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.66 CRYBB2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.66 RHOT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.66 MICU2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-187 9.66 MICU2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.66 CRYBB2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.66 MICU2 RHOT1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.66 CRYBB2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.66 CRYBB2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.66 CRYBB2 MICU2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.66 MICU2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.66 CRYBB2

Drugs & Therapeutics for Cataract 3, Multiple Types

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Irinotecan Approved, Investigational Phase 1 97682-44-5, 100286-90-6 60838
2
Fluorouracil Approved Phase 1 51-21-8 3385
3 topoisomerase I inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 *Official Title: Randomized, Open-label, Single-dose, Two-sequence, Two-period, Crossover Bioequivalence Trial of Irinotecan Liposome Injection in Patients With Advanced Pancreatic Cancer. Recruiting NCT04482257 Phase 1 Irinotecan Liposome Injection combined with 5-FU/LV

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, Whole Blood, Pituitary, Liver

Publications for Cataract 3, Multiple Types

Articles related to Cataract 3, Multiple Types:

(show all 45)
# Title Authors PMID Year
1
Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. 57 6
17234267 2007
2
A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. 6 57
11424921 2001
3
Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. 6 57
10634616 2000
4
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. 57 6
9158139 1997
5
A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. 6 57
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. 6 57
2240043 1990
7
Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes. 6
30450742 2018
8
Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities. 6
29386872 2017
9
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 6
26694549 2016
10
Cataract-linked mutation R188H promotes βB2-crystallin aggregation and fibrillization during acid denaturation. 6
24704203 2014
11
The importance of the last strand at the C-terminus in βB2-crystallin stability and assembly. 6
24120835 2014
12
The genetics of cataract: our vision becomes clearer. 57
9497271 1998
13
[Comparison of residual cement between CAD/CAM customized abutments and stock abutments via digital measurement in vitro]. 61
33550338 2020
14
Futibatinib, an investigational agent for the treatment of intrahepatic cholangiocarcinoma: evidence to date and future perspectives. 61
33054456 2020
15
NTRU-Like Random Congruential Public-Key Cryptosystem for Wireless Sensor Networks. 61
32824585 2020
16
Antifungal effect of photodynamic therapy mediated by curcumin on Candida albicans biofilms in vitro. 61
31233886 2019
17
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
18
Schizosaccharomyces pombe contains separate CC- and A-adding tRNA nucleotidyltransferases. 61
30528393 2019
19
An efficient heterogeneous signcryption for smart grid. 61
30562351 2018
20
JQ1 Induces DNA Damage and Apoptosis, and Inhibits Tumor Growth in a Patient-Derived Xenograft Model of Cholangiocarcinoma. 61
29142067 2018
21
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
22
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
23
Ranolazine reduces Ca2+ overload and oxidative stress and improves mitochondrial integrity to protect against ischemia reperfusion injury in isolated hearts. 61
21741479 2011
24
Calcium-corrected intact PTH: a clinically useful parameter for quantifying parathyroid function in patients undergoing hemodialysis. 61
20173350 2010
25
Clinical and statistical evaluation of 1st Automatic: a pilot study. 61
19745338 2009
26
A major role for P2X1 receptors in the early collagen-evoked intracellular Ca2+ responses of human platelets. 61
16113781 2005
27
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
28
Relation between blood pH and ionized calcium during acute metabolic alteration of the acid-base balance in vivo. 61
9249879 1997
29
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
30
Cca3, the mRNA level of which transiently decreases before initiation of DNA synthesis in regenerating rat liver cells. 61
9109406 1997
31
Altered calcium homeostasis in the rat cochlear duct and endogenous corticosteroid insufficiency. 61
9151013 1997
32
Measurement of ionized magnesium with AVL 988/4 electrolyte analyzer: preliminary analytical and clinical results. 61
8865442 1996
33
The Ca(2+)-standardization of Japan only may cause problems for the importation of foreign analyzers. 61
8865429 1996
34
Ca(2+)-induced lateral phase separation in black lipid membranes and its coupling to the ion translocation by gramicidin. 61
7692968 1993
35
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
36
Ionized calcium in blood: studies on patients with pulmonary disease. 61
1910074 1991
37
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
38
Effects of erythrocytes, bicarbonate, temperature and albumin on in vitro ionized calcium variations with pH. 61
2595242 1989
39
Ionized calcium and acid-base status in arterial and venous whole blood during general anaesthesia. 61
3358094 1988
40
Actual ionized calcium and pH in blood collected in capillary or evacuated tubes. 61
3952443 1986
41
Sampling and storage of blood for determination of ionized calcium. 61
3923606 1985
42
The concentration of free calcium ions in capillary blood from neonates on a routine basis using the ICA 1. 61
6701447 1984
43
The effect of temperature on plasma ionized calcium measured in whole blood in vitro. 61
6665519 1983
44
Evaluation of a new semiautomatic electrode system for simultaneous measurement of ionized calcium and pH. 61
7156853 1982
45
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 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRYBB2 CRYBB2, 483C-T SNV Pathogenic 16950 GRCh37:
GRCh38:
2 CRYBB2 NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter) SNV Pathogenic 16949 rs74315489 GRCh37: 22:25627584-25627584
GRCh38: 22:25231617-25231617
3 CRYBB2 NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg) SNV Pathogenic/Likely pathogenic 242473 rs864309698 GRCh37: 22:25625451-25625451
GRCh38: 22:25229484-25229484
4 CRYBB2 NM_000496.3(CRYBB2):c.446G>T (p.Gly149Val) SNV Likely pathogenic 952559 GRCh37: 22:25625542-25625542
GRCh38: 22:25229575-25229575
5 CRYBB2 NM_000496.3(CRYBB2):c.563G>A (p.Arg188His) SNV Likely pathogenic 280142 rs886041410 GRCh37: 22:25627684-25627684
GRCh38: 22:25231717-25231717
6 CRYBB2 NM_000496.3(CRYBB2):c.161T>G (p.Val54Gly) SNV Likely pathogenic 463969 rs1555888762 GRCh37: 22:25620991-25620991
GRCh38: 22:25225024-25225024
7 CRYBB2 NM_000496.3(CRYBB2):c.551T>G (p.Val184Gly) SNV Likely pathogenic 463971 rs1555889308 GRCh37: 22:25627672-25627672
GRCh38: 22:25231705-25231705
8 CRYBB2 NM_000496.3(CRYBB2):c.481G>C (p.Gly161Arg) SNV Uncertain significance 571643 rs1569022638 GRCh37: 22:25627602-25627602
GRCh38: 22:25231635-25231635
9 CRYBB2 NM_000496.3(CRYBB2):c.472G>A (p.Gly158Ser) SNV Uncertain significance 930402 GRCh37: 22:25627593-25627593
GRCh38: 22:25231626-25231626
10 CRYBB2 NM_000496.3(CRYBB2):c.254G>T (p.Trp85Leu) SNV Uncertain significance 930464 GRCh37: 22:25623900-25623900
GRCh38: 22:25227933-25227933
11 CRYBB2 NM_000496.3(CRYBB2):c.24G>C (p.Gln8His) SNV Uncertain significance 931053 GRCh37: 22:25617420-25617420
GRCh38: 22:25221453-25221453
12 CRYBB2 NM_000496.3(CRYBB2):c.79T>G (p.Phe27Val) SNV Uncertain significance 863971 GRCh37: 22:25620909-25620909
GRCh38: 22:25224942-25224942
13 CRYBB2 NM_000496.3(CRYBB2):c.304G>A (p.Val102Met) SNV Uncertain significance 940153 GRCh37: 22:25623950-25623950
GRCh38: 22:25227983-25227983
14 CRYBB2 NM_000496.3(CRYBB2):c.181G>A (p.Gly61Ser) SNV Uncertain significance 849925 GRCh37: 22:25623827-25623827
GRCh38: 22:25227860-25227860
15 CRYBB2 NM_000496.3(CRYBB2):c.173+1G>T SNV Uncertain significance 1038716 GRCh37: 22:25621004-25621004
GRCh38: 22:25225037-25225037
16 CRYBB2 NM_000496.3(CRYBB2):c.559G>A (p.Val187Met) SNV Uncertain significance 1039314 GRCh37: 22:25627680-25627680
GRCh38: 22:25231713-25231713
17 CRYBB2 NM_000496.3(CRYBB2):c.242G>A (p.Arg81His) SNV Uncertain significance 463970 rs146763276 GRCh37: 22:25623888-25623888
GRCh38: 22:25227921-25227921
18 CRYBB2 NM_000496.3(CRYBB2):c.193G>T (p.Ala65Ser) SNV Benign 256281 rs16986560 GRCh37: 22:25623839-25623839
GRCh38: 22:25227872-25227872
19 CRYBB2 NM_000496.3(CRYBB2):c.40T>A (p.Ser14Thr) SNV Benign 667923 rs117457580 GRCh37: 22:25617436-25617436
GRCh38: 22:25221469-25221469

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 11.24 MICU1 MCUR1 MCU
2 10.81 OR6C3 OR6C2 OR5AC2

GO Terms for Cataract 3, Multiple Types

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.14 SMDT1 SLC8B1 RHOT1 OR6C3 OR6C2 OR5AC2
2 mitochondrion GO:0005739 9.96 TRNT1 SMDT1 SLC8B1 RHOT1 MICU3 MICU2
3 integral component of mitochondrial inner membrane GO:0031305 9.62 SMDT1 MCUR1 MCUB MCU
4 mitochondrial inner membrane GO:0005743 9.56 SMDT1 SLC8B1 MICU3 MICU2 MICU1 MCUR1
5 calcium channel complex GO:0034704 9.46 MICU2 MICU1 MCUB MCU
6 integral component of mitochondrial membrane GO:0032592 9.37 SLC8B1 MICU1
7 uniplex complex GO:1990246 9.1 SMDT1 MICU3 MICU2 MICU1 MCUB MCU

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 SMDT1 SLC8B1 MICU1 MCUR1 MCUB MCU
2 response to stimulus GO:0050896 9.8 SLC8B1 OR6C3 OR6C2 OR5AC2 CRYBB2
3 calcium ion transport GO:0006816 9.8 SMDT1 SLC8B1 MICU1 MCUR1 MCUB MCU
4 mitochondrial calcium ion homeostasis GO:0051560 9.7 SMDT1 SLC8B1 MICU3 MICU2 MICU1 MCUB
5 positive regulation of mitochondrial calcium ion concentration GO:0051561 9.56 MICU2 MICU1 MCUR1 MCU
6 calcium import into the mitochondrion GO:0036444 9.5 SMDT1 MICU3 MICU2 MICU1 MCUR1 MCUB
7 calcium ion import GO:0070509 9.43 MICU1 MCUR1
8 mitochondrial calcium ion transmembrane transport GO:0006851 9.23 SMDT1 SLC8B1 MICU3 MICU2 MICU1 MCUR1

Sources for Cataract 3, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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