CTRCT17
MCID: CTR131
MIFTS: 31

Cataract 17, Multiple Types (CTRCT17)

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

Aliases & Classifications for Cataract 17, Multiple Types

MalaCards integrated aliases for Cataract 17, Multiple Types:

Name: Cataract 17, Multiple Types 57 72 70
Cataract, Congenital Nuclear, Autosomal Recessive 3 57 29 13 6 70
Ctrct17 57 12 72
Catcn3 57 12 72
Cataract 17, Multiple Types, with or Without Microcornea 57 72
Autosomal Recessive Congenital Nuclear Cataract 3 12 72
Cataract 17 Multiple Types 12 15
Cataract, Congenital Nuclear, Autosomal Recessive 3; Catcn3 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
cataracts are present at birth or develop in the first year of life
cataracts are asymmetric between the 2 eyes in some patients


HPO:

31
cataract 17, multiple types:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110270
OMIM® 57 611544
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
UMLS 70 C1969062 C3888124

Summaries for Cataract 17, Multiple Types

UniProtKB/Swiss-Prot : 72 Cataract 17, 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT17 includes nuclear and pulverulent cataracts, among others. Nuclear cataracts affect the central nucleus of the eye, are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens.

MalaCards based summary : Cataract 17, Multiple Types, also known as cataract, congenital nuclear, autosomal recessive 3, is related to cataract and microphthalmia, isolated 1. An important gene associated with Cataract 17, Multiple Types is CRYBB1 (Crystallin Beta B1). Affiliated tissues include eye, and related phenotypes are amblyopia and microcornea

Disease Ontology : 12 A cataract that has material basis in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12.

OMIM® : 57 Mutations in the CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear, congenital nuclear with anterior and posterior Y-suture and polar opacities, and pulverulent. The preferred title/symbol for this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 3; CATCN3.' (611544) (Updated 20-May-2021)

Related Diseases for Cataract 17, 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 17, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 9.7 CRYBB1 CRYBA4
2 microphthalmia, isolated 1 9.7 CRYBB1 CRYBA4
3 abruzzo-erickson syndrome 9.7 CRYBB1 CRYBA4
4 nance-horan syndrome 9.7 CRYBB1 CRYBA4
5 cataract microcornea syndrome 9.6 CRYBB1 CRYBA4
6 lens disease 9.6 CRYBB1 CRYBA4
7 aniridia 1 9.6 CRYBB1 CRYBA4
8 anterior segment dysgenesis 9.5 CRYBB1 CRYBA4
9 early-onset non-syndromic cataract 9.4 CRYBB1 CRYBA4

Graphical network of the top 20 diseases related to Cataract 17, Multiple Types:



Diseases related to Cataract 17, Multiple Types

Symptoms & Phenotypes for Cataract 17, Multiple Types

Human phenotypes related to Cataract 17, Multiple Types:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 amblyopia 31 occasional (7.5%) HP:0000646
2 microcornea 31 occasional (7.5%) HP:0000482
3 nystagmus 31 HP:0000639
4 developmental cataract 31 HP:0000519
5 nuclear cataract 31 HP:0100018
6 pulverulent cataract 31 HP:0010693

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
reduced visual acuity
nuclear cataract
pulverulent cataract
microcornea (in some patients)
more

Clinical features from OMIM®:

611544 (Updated 20-May-2021)

Drugs & Therapeutics for Cataract 17, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 17, Multiple Types

Genetic Tests for Cataract 17, Multiple Types

Genetic tests related to Cataract 17, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract, Congenital Nuclear, Autosomal Recessive 3 29 CRYBB1

Anatomical Context for Cataract 17, Multiple Types

MalaCards organs/tissues related to Cataract 17, Multiple Types:

40
Eye

Publications for Cataract 17, Multiple Types

Articles related to Cataract 17, Multiple Types:

# Title Authors PMID Year
1
A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer. 6 57
21972112 2011
2
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. 6 57
17460281 2007
3
CRYBB1 mutation associated with congenital cataract and microcornea. 57 6
16110300 2005
4
A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. 57 6
12360425 2002

Variations for Cataract 17, Multiple Types

ClinVar genetic disease variations for Cataract 17, Multiple Types:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRYBB1 NM_001887.4(CRYBB1):c.658G>T (p.Gly220Ter) SNV Pathogenic 8687 rs74315488 GRCh37: 22:26995555-26995555
GRCh38: 22:26599591-26599591
2 CRYBB1 NM_001887.4(CRYBB1):c.585del (p.Tyr196fs) Deletion Pathogenic 574493 rs1569203234 GRCh37: 22:26995628-26995628
GRCh38: 22:26599664-26599664
3 CRYBB1 NM_001887.4(CRYBB1):c.387C>A (p.Ser129Arg) SNV Pathogenic 427749 rs1114167433 GRCh37: 22:27003898-27003898
GRCh38: 22:26607934-26607934
4 CRYBB1 NM_001887.4(CRYBB1):c.757T>C (p.Ter253Arg) SNV Pathogenic 427748 rs1114167432 GRCh37: 22:26995456-26995456
GRCh38: 22:26599492-26599492
5 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.171del (p.Asn58fs) Deletion Pathogenic 419532 rs1064793935 GRCh37: 22:27012113-27012113
GRCh38: 22:26616149-26616149
6 CRYBB1 NM_001887.4(CRYBB1):c.473dup (p.Asn158fs) Duplication Pathogenic 1033454 GRCh37: 22:26997944-26997945
GRCh38: 22:26601980-26601981
7 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.179G>C (p.Arg60Thr) SNV Conflicting interpretations of pathogenicity 798218 rs139107757 GRCh37: 22:27012105-27012105
GRCh38: 22:26616141-26616141
8 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.13G>A (p.Ala5Thr) SNV Uncertain significance 900138 GRCh37: 22:27012271-27012271
GRCh38: 22:26616307-26616307
9 CRYBB1 NM_001887.4(CRYBB1):c.688C>A (p.Arg230Ser) SNV Uncertain significance 901235 GRCh37: 22:26995525-26995525
GRCh38: 22:26599561-26599561
10 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.234G>T (p.Gly78=) SNV Uncertain significance 581088 rs1569206910 GRCh37: 22:27008101-27008101
GRCh38: 22:26612137-26612137
11 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.217C>T (p.Arg73Ter) SNV Uncertain significance 631889 rs762814574 GRCh37: 22:27008118-27008118
GRCh38: 22:26612154-26612154
12 CRYBB1 NM_001887.4(CRYBB1):c.712dup (p.His238fs) Duplication Uncertain significance 639940 rs1602319108 GRCh37: 22:26995500-26995501
GRCh38: 22:26599536-26599537
13 CRYBB1 NM_001887.4(CRYBB1):c.744A>G (p.Thr248=) SNV Uncertain significance 341042 rs142495368 GRCh37: 22:26995469-26995469
GRCh38: 22:26599505-26599505
14 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.275G>A (p.Arg92His) SNV Uncertain significance 341048 rs750427170 GRCh37: 22:27008060-27008060
GRCh38: 22:26612096-26612096
15 CRYBB1 NM_001887.4(CRYBB1):c.427A>G (p.Lys143Glu) SNV Uncertain significance 341045 rs764907340 GRCh37: 22:27003858-27003858
GRCh38: 22:26607894-26607894
16 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.-6G>A SNV Uncertain significance 341051 rs200241940 GRCh37: 22:27012289-27012289
GRCh38: 22:26616325-26616325
17 CRYBB1 NM_001887.4(CRYBB1):c.394C>G (p.Arg132Gly) SNV Uncertain significance 341046 rs148083686 GRCh37: 22:27003891-27003891
GRCh38: 22:26607927-26607927
18 CRYBB1 NM_001887.4(CRYBB1):c.576-3C>A SNV Uncertain significance 341043 rs142497666 GRCh37: 22:26995640-26995640
GRCh38: 22:26599676-26599676
19 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.-7G>A SNV Uncertain significance 341052 rs200292741 GRCh37: 22:27012290-27012290
GRCh38: 22:26616326-26616326
20 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.156G>A (p.Ala52=) SNV Uncertain significance 341049 rs149902597 GRCh37: 22:27012128-27012128
GRCh38: 22:26616164-26616164
21 CRYBB1 NM_001887.4(CRYBB1):c.*67C>G SNV Uncertain significance 341041 rs144489412 GRCh37: 22:26995387-26995387
GRCh38: 22:26599423-26599423
22 CRYBB1 NM_001887.4(CRYBB1):c.384G>A (p.Ser128=) SNV Uncertain significance 341047 rs370514627 GRCh37: 22:27003901-27003901
GRCh38: 22:26607937-26607937
23 CRYBB1 NM_001887.4(CRYBB1):c.448A>G (p.Lys150Glu) SNV Uncertain significance 341044 rs886057326 GRCh37: 22:26997970-26997970
GRCh38: 22:26602006-26602006
24 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.-58C>T SNV Uncertain significance 341053 rs886057327 GRCh37: 22:27013979-27013979
GRCh38: 22:26618015-26618015
25 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.37G>A (p.Val13Met) SNV Uncertain significance 341050 rs747901309 GRCh37: 22:27012247-27012247
GRCh38: 22:26616283-26616283
26 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.63C>A (p.Thr21=) SNV Uncertain significance 902689 GRCh37: 22:27012221-27012221
GRCh38: 22:26616257-26616257
27 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.292G>A (p.Ala98Thr) SNV Uncertain significance 902685 GRCh37: 22:27008043-27008043
GRCh38: 22:26612079-26612079
28 CRYBB1 NM_001887.4(CRYBB1):c.432+5G>C SNV Uncertain significance 468743 rs1555940959 GRCh37: 22:27003848-27003848
GRCh38: 22:26607884-26607884
29 CRYBB1 NM_001887.4(CRYBB1):c.357C>T (p.Gly119=) SNV Uncertain significance 901775 GRCh37: 22:27003928-27003928
GRCh38: 22:26607964-26607964
30 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.300-9T>G SNV Uncertain significance 901776 GRCh37: 22:27003994-27003994
GRCh38: 22:26608030-26608030
31 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.294G>A (p.Ala98=) SNV Uncertain significance 901777 GRCh37: 22:27008041-27008041
GRCh38: 22:26612077-26612077
32 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.293C>A (p.Ala98Glu) SNV Uncertain significance 901778 GRCh37: 22:27008042-27008042
GRCh38: 22:26612078-26612078
33 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.282C>T (p.Ile94=) SNV Uncertain significance 902686 GRCh37: 22:27008053-27008053
GRCh38: 22:26612089-26612089
34 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.274C>T (p.Arg92Cys) SNV Uncertain significance 902687 GRCh37: 22:27008061-27008061
GRCh38: 22:26612097-26612097
35 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.74G>A (p.Gly25Glu) SNV Likely benign 902688 GRCh37: 22:27012210-27012210
GRCh38: 22:26616246-26616246
36 CRYBB1 NM_001887.4(CRYBB1):c.432+15G>A SNV Likely benign 901236 GRCh37: 22:27003838-27003838
GRCh38: 22:26607874-26607874
37 CRYBA4 , CRYBB1 NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys) SNV Benign 468742 rs147206089 GRCh37: 22:27003957-27003957
GRCh38: 22:26607993-26607993

UniProtKB/Swiss-Prot genetic disease variations for Cataract 17, Multiple Types:

72
# Symbol AA change Variation ID SNP ID
1 CRYBB1 p.Val96Phe VAR_070030

Expression for Cataract 17, Multiple Types

Search GEO for disease gene expression data for Cataract 17, Multiple Types.

Pathways for Cataract 17, Multiple Types

GO Terms for Cataract 17, Multiple Types

Biological processes related to Cataract 17, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.96 CRYBB1 CRYBA4
2 lens development in camera-type eye GO:0002088 8.62 CRYBB1 CRYBA4

Molecular functions related to Cataract 17, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 8.62 CRYBB1 CRYBA4

Sources for Cataract 17, 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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