CTRCT12
MCID: CTR105
MIFTS: 21

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 58 76 30 13 6 74
Ctrct12 58 12 76
Cataract, Type 12, Multiple Types 41
Cataract 12 Multiple Types 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cataract 12, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110239
OMIM 58 611597
MeSH 45 D002386
ICD10 34 Q12.0
UMLS 74 C3808115

Summaries for Cataract 12, Multiple Types

UniProtKB/Swiss-Prot : 76 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, is also known as ctrct12. 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 : 58 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)

Symptoms & Phenotypes for Cataract 12, Multiple Types

Human phenotypes related to Cataract 12, Multiple Types:

33
# Description HPO Frequency HPO Source Accession
1 myopia 33 HP:0000545
2 developmental cataract 33 HP:0000519
3 progressive cataract 33 HP:0007834

Symptoms via clinical synopsis from OMIM:

58
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

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 30 BFSP2

Anatomical Context for Cataract 12, Multiple Types

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

42
Eye

Publications for Cataract 12, Multiple Types

Variations for Cataract 12, Multiple Types

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

76
# Symbol AA change Variation ID SNP ID
1 BFSP2 p.Arg287Trp VAR_012164 rs104893685

ClinVar genetic disease variations for Cataract 12, Multiple Types:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 BFSP2 NM_003571.3(BFSP2): c.859C> T (p.Arg287Trp) single nucleotide variant Pathogenic rs104893685 GRCh37 Chromosome 3, 133169276: 133169276
2 BFSP2 NM_003571.3(BFSP2): c.859C> T (p.Arg287Trp) single nucleotide variant Pathogenic rs104893685 GRCh38 Chromosome 3, 133450432: 133450432
3 BFSP2 NM_003571.3(BFSP2): c.697_699delGAA (p.Glu233del) deletion Pathogenic rs121908938 GRCh37 Chromosome 3, 133167457: 133167459
4 BFSP2 NM_003571.3(BFSP2): c.697_699delGAA (p.Glu233del) deletion Pathogenic rs121908938 GRCh38 Chromosome 3, 133448613: 133448615
5 BFSP2 NM_003571.3(BFSP2): c.1220C> A (p.Ala407Asp) single nucleotide variant Benign rs79087781 GRCh37 Chromosome 3, 133191385: 133191385
6 BFSP2 NM_003571.3(BFSP2): c.1220C> A (p.Ala407Asp) single nucleotide variant Benign rs79087781 GRCh38 Chromosome 3, 133472541: 133472541
7 BFSP2 NM_003571.3(BFSP2): c.162C> T (p.Pro54=) single nucleotide variant Benign/Likely benign rs112142146 GRCh38 Chromosome 3, 133400245: 133400245
8 BFSP2 NM_003571.3(BFSP2): c.162C> T (p.Pro54=) single nucleotide variant Benign/Likely benign rs112142146 GRCh37 Chromosome 3, 133119089: 133119089
9 BFSP2 NM_003571.3(BFSP2): c.369C> T (p.His123=) single nucleotide variant Benign/Likely benign rs34163197 GRCh38 Chromosome 3, 133400452: 133400452
10 BFSP2 NM_003571.3(BFSP2): c.369C> T (p.His123=) single nucleotide variant Benign/Likely benign rs34163197 GRCh37 Chromosome 3, 133119296: 133119296
11 BFSP2 NM_003571.3(BFSP2): c.379C> G (p.Gln127Glu) single nucleotide variant Benign/Likely benign rs185816798 GRCh38 Chromosome 3, 133400462: 133400462
12 BFSP2 NM_003571.3(BFSP2): c.379C> G (p.Gln127Glu) single nucleotide variant Benign/Likely benign rs185816798 GRCh37 Chromosome 3, 133119306: 133119306
13 BFSP2 NM_003571.3(BFSP2): c.954G> T (p.Arg318Ser) single nucleotide variant Likely benign rs146972354 GRCh38 Chromosome 3, 133466890: 133466890
14 BFSP2 NM_003571.3(BFSP2): c.954G> T (p.Arg318Ser) single nucleotide variant Likely benign rs146972354 GRCh37 Chromosome 3, 133185734: 133185734
15 BFSP2 NM_003571.3(BFSP2): c.603A> G (p.Ala201=) single nucleotide variant Benign rs2276737 GRCh38 Chromosome 3, 133448519: 133448519
16 BFSP2 NM_003571.3(BFSP2): c.603A> G (p.Ala201=) single nucleotide variant Benign rs2276737 GRCh37 Chromosome 3, 133167363: 133167363

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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