CTRCT12
MCID: CTR105
MIFTS: 26

Cataract 12, Multiple Types (CTRCT12)

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

Aliases & Classifications for Cataract 12, Multiple Types

MalaCards integrated aliases for Cataract 12, Multiple Types:

Name: Cataract 12, Multiple Types 57 72 29 13 6 70
Ctrct12 57 12 72
Cataract, Type 12, Multiple Types 39
Cataract 12 Multiple Types 12

Characteristics:

OMIM®:

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

Miscellaneous:
phenotype may or may not be consistent within a family.


HPO:

31
cataract 12, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110239
OMIM® 57 611597
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
UMLS 70 C3808115

Summaries for Cataract 12, Multiple Types

UniProtKB/Swiss-Prot : 72 Cataract 12, 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. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset.

MalaCards based summary : Cataract 12, Multiple Types, also known as ctrct12, is related to cataract and early-onset non-syndromic cataract. An important gene associated with Cataract 12, Multiple Types is BFSP2 (Beaded Filament Structural Protein 2). Affiliated tissues include eye, and related phenotypes are myopia and developmental cataract

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.

OMIM® : 57 Mutations in the BFSP2 gene have been found to cause multiple types of cataract, which have been described as juvenile-onset lamellar, cortical, nuclear embryonic; and congenital nuclear, sutural, stellate, Y-sutural, and punctate cortical. (611597) (Updated 20-May-2021)

Related Diseases for Cataract 12, Multiple Types

Symptoms & Phenotypes for Cataract 12, Multiple Types

Human phenotypes related to Cataract 12, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 developmental cataract 31 HP:0000519
3 progressive cataract 31 HP:0007834

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
myopia
cataract, congenital (nuclear, sutural, or stellate cortical)
cataract, progressive, juvenile-onset (lamellar, cortical, nuclear embryonic, or y-sutural)
cataract, adult-onset (punctate cortical)

Clinical features from OMIM®:

611597 (Updated 20-May-2021)

Drugs & Therapeutics for Cataract 12, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 12, Multiple Types

Genetic Tests for Cataract 12, Multiple Types

Genetic tests related to Cataract 12, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract 12, Multiple Types 29 BFSP2

Anatomical Context for Cataract 12, Multiple Types

MalaCards organs/tissues related to Cataract 12, Multiple Types:

40
Eye

Publications for Cataract 12, Multiple Types

Articles related to Cataract 12, Multiple Types:

# Title Authors PMID Year
1
Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. 6 57
15570218 2004
2
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. 57 6
10739768 2000
3
A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. 57 6
10729115 2000
4
A new locus for autosomal dominant congenital cataracts maps to chromosome 3. 57 6
10634598 2000

Variations for Cataract 12, Multiple Types

ClinVar genetic disease variations for Cataract 12, Multiple Types:

6 (show all 45)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp) SNV Pathogenic 6583 rs104893685 GRCh37: 3:133169276-133169276
GRCh38: 3:133450432-133450432
2 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.694_696GAA[1] (p.Glu233del) Microsatellite Pathogenic 6584 rs121908938 GRCh37: 3:133167452-133167454
GRCh38: 3:133448608-133448610
3 BFSP2 NM_003571.4(BFSP2):c.449_450delinsT (p.Trp150fs) Indel Pathogenic 1031337 GRCh37: 3:133119376-133119377
GRCh38: 3:133400532-133400533
4 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val) SNV Conflicting interpretations of pathogenicity 660770 rs139944598 GRCh37: 3:133191280-133191280
GRCh38: 3:133472436-133472436
5 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.867G>C (p.Glu289Asp) SNV Uncertain significance 856280 GRCh37: 3:133169284-133169284
GRCh38: 3:133450440-133450440
6 BFSP2 NM_003571.4(BFSP2):c.13C>T (p.Arg5Ter) SNV Uncertain significance 1031336 GRCh37: 3:133118940-133118940
GRCh38: 3:133400096-133400096
7 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.628_629TA[1] (p.Tyr210_Lys211delinsTer) Microsatellite Uncertain significance 632400 rs768745697 GRCh37: 3:133167388-133167389
GRCh38: 3:133448544-133448545
8 BFSP2 NM_003571.4(BFSP2):c.422A>C (p.Glu141Ala) SNV Uncertain significance 343407 rs886058009 GRCh37: 3:133119349-133119349
GRCh38: 3:133400505-133400505
9 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.701T>C (p.Leu234Pro) SNV Uncertain significance 343410 rs886058011 GRCh37: 3:133167461-133167461
GRCh38: 3:133448617-133448617
10 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.*226C>A SNV Uncertain significance 343418 rs574253958 GRCh37: 3:133194042-133194042
GRCh38: 3:133475198-133475198
11 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.722A>G (p.Tyr241Cys) SNV Uncertain significance 343411 rs886058012 GRCh37: 3:133167482-133167482
GRCh38: 3:133448638-133448638
12 BFSP2 NM_003571.4(BFSP2):c.5G>A (p.Ser2Asn) SNV Uncertain significance 343397 rs886058007 GRCh37: 3:133118932-133118932
GRCh38: 3:133400088-133400088
13 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.*159T>G SNV Uncertain significance 343416 rs540920442 GRCh37: 3:133193975-133193975
GRCh38: 3:133475131-133475131
14 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.567A>G (p.Lys189=) SNV Uncertain significance 343409 rs886058010 GRCh37: 3:133166238-133166238
GRCh38: 3:133447394-133447394
15 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.*132G>C SNV Uncertain significance 343414 rs578233592 GRCh37: 3:133193948-133193948
GRCh38: 3:133475104-133475104
16 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.1244+8T>C SNV Uncertain significance 899391 GRCh37: 3:133191417-133191417
GRCh38: 3:133472573-133472573
17 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.*225G>A SNV Uncertain significance 899392 GRCh37: 3:133194041-133194041
GRCh38: 3:133475197-133475197
18 BFSP2 NM_003571.4(BFSP2):c.396G>A (p.Leu132=) SNV Uncertain significance 900457 GRCh37: 3:133119323-133119323
GRCh38: 3:133400479-133400479
19 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.578A>G (p.Glu193Gly) SNV Uncertain significance 902121 GRCh37: 3:133167338-133167338
GRCh38: 3:133448494-133448494
20 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.918C>G (p.Ser306=) SNV Uncertain significance 903008 GRCh37: 3:133185698-133185698
GRCh38: 3:133466854-133466854
21 BFSP2 NM_003571.4(BFSP2):c.166del (p.Val56fs) Deletion Uncertain significance 646545 rs1576552712 GRCh37: 3:133119090-133119090
GRCh38: 3:133400246-133400246
22 BFSP2 NM_003571.4(BFSP2):c.251dup (p.Leu85fs) Duplication Uncertain significance 343402 rs886058008 GRCh37: 3:133119176-133119177
GRCh38: 3:133400332-133400333
23 BFSP2 NM_003571.4(BFSP2):c.-4G>A SNV Likely benign 900394 GRCh37: 3:133118924-133118924
GRCh38: 3:133400080-133400080
24 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.*209C>T SNV Likely benign 343417 rs150374124 GRCh37: 3:133194025-133194025
GRCh38: 3:133475181-133475181
25 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.954G>T (p.Arg318Ser) SNV Likely benign 474094 rs146972354 GRCh37: 3:133185734-133185734
GRCh38: 3:133466890-133466890
26 BFSP2 NM_003571.4(BFSP2):c.437G>T (p.Arg146Leu) SNV Likely benign 343408 rs148759360 GRCh37: 3:133119364-133119364
GRCh38: 3:133400520-133400520
27 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.517C>T (p.Arg173Trp) SNV Likely benign 902120 GRCh37: 3:133166188-133166188
GRCh38: 3:133447344-133447344
28 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.730-7T>C SNV Benign/Likely benign 740805 rs75746794 GRCh37: 3:133169140-133169140
GRCh38: 3:133450296-133450296
29 BFSP2 NM_003571.4(BFSP2):c.379C>G (p.Gln127Glu) SNV Benign 343405 rs185816798 GRCh37: 3:133119306-133119306
GRCh38: 3:133400462-133400462
30 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.667C>G (p.Leu223Val) SNV Benign 903006 GRCh37: 3:133167427-133167427
GRCh38: 3:133448583-133448583
31 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.720C>T (p.Asn240=) SNV Benign 903007 GRCh37: 3:133167480-133167480
GRCh38: 3:133448636-133448636
32 BFSP2 NM_003571.4(BFSP2):c.436C>T (p.Arg146Cys) SNV Benign 902119 GRCh37: 3:133119363-133119363
GRCh38: 3:133400519-133400519
33 BFSP2 NM_003571.4(BFSP2):c.246T>C (p.Ser82=) SNV Benign 343401 rs145934653 GRCh37: 3:133119173-133119173
GRCh38: 3:133400329-133400329
34 BFSP2 NM_003571.4(BFSP2):c.162C>T (p.Pro54=) SNV Benign 343400 rs112142146 GRCh37: 3:133119089-133119089
GRCh38: 3:133400245-133400245
35 BFSP2 NM_003571.4(BFSP2):c.369C>T (p.His123=) SNV Benign 343404 rs34163197 GRCh37: 3:133119296-133119296
GRCh38: 3:133400452-133400452
36 BFSP2 NM_003571.4(BFSP2):c.75G>A (p.Ala25=) SNV Benign 343398 rs146992682 GRCh37: 3:133119002-133119002
GRCh38: 3:133400158-133400158
37 BFSP2 NM_003571.4(BFSP2):c.285C>T (p.Thr95=) SNV Benign 900455 GRCh37: 3:133119212-133119212
GRCh38: 3:133400368-133400368
38 BFSP2 NM_003571.4(BFSP2):c.370G>A (p.Ala124Thr) SNV Benign 900456 GRCh37: 3:133119297-133119297
GRCh38: 3:133400453-133400453
39 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.*73C>T SNV Benign 343413 rs537979573 GRCh37: 3:133193889-133193889
GRCh38: 3:133475045-133475045
40 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.865G>A (p.Glu289Lys) SNV Benign 343412 rs145444931 GRCh37: 3:133169282-133169282
GRCh38: 3:133450438-133450438
41 BFSP2 NM_003571.4(BFSP2):c.366G>A (p.Val122=) SNV Benign 343403 rs139476224 GRCh37: 3:133119293-133119293
GRCh38: 3:133400449-133400449
42 BFSP2 NM_003571.4(BFSP2):c.410G>A (p.Arg137Gln) SNV Benign 343406 rs80176276 GRCh37: 3:133119337-133119337
GRCh38: 3:133400493-133400493
43 BFSP2 NM_003571.4(BFSP2):c.100T>C (p.Ser34Pro) SNV Benign 343399 rs200208769 GRCh37: 3:133119027-133119027
GRCh38: 3:133400183-133400183
44 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.603= (p.Ala201=) SNV Benign 474093 rs2276737 GRCh37: 3:133167363-133167363
GRCh38: 3:133448519-133448519
45 BFSP2-AS1 , BFSP2 NM_003571.4(BFSP2):c.1220C>A (p.Ala407Asp) SNV Benign 259089 rs79087781 GRCh37: 3:133191385-133191385
GRCh38: 3:133472541-133472541

UniProtKB/Swiss-Prot genetic disease variations for Cataract 12, Multiple Types:

72
# Symbol AA change Variation ID SNP ID
1 BFSP2 p.Arg287Trp VAR_012164 rs104893685

Expression for Cataract 12, Multiple Types

Search GEO for disease gene expression data for Cataract 12, Multiple Types.

Pathways for Cataract 12, Multiple Types

GO Terms for Cataract 12, Multiple Types

Sources for Cataract 12, Multiple Types

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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