CTRCT33
MCID: CTR166
MIFTS: 28

Cataract 33, Multiple Types (CTRCT33)

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

Aliases & Classifications for Cataract 33, Multiple Types

MalaCards integrated aliases for Cataract 33, Multiple Types:

Name: Cataract 33, Multiple Types 57 74 29 6
Ctrct33 57 74
Cataract, Cortical, Juvenile-Onset 13
Cortical Juvenile-Onset Cataract 74
Cortical Cataract 33 74
Cataract 33 72

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
cataracts first documented in early childhood


HPO:

32
cataract 33, multiple types:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D002386
UMLS 72 C3808107

Summaries for Cataract 33, Multiple Types

UniProtKB/Swiss-Prot : 74 Cataract 33, 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. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus.

MalaCards based summary : Cataract 33, Multiple Types, also known as ctrct33, is related to cataract 33. An important gene associated with Cataract 33, Multiple Types is BFSP1 (Beaded Filament Structural Protein 1). The drugs Antioxidants and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include cortex, eye and endothelial, and related phenotypes are nuclear cataract and cortical cataract

OMIM : 57 Mutations in the BFSP1 gene have been found to cause multiple types of cataract, which have been described as cortical, nuclear, and progressive punctate lamellar. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. (611391)

Related Diseases for Cataract 33, Multiple Types

Symptoms & Phenotypes for Cataract 33, Multiple Types

Human phenotypes related to Cataract 33, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 nuclear cataract 32 HP:0100018
2 cortical cataract 32 HP:0100019
3 lamellar cataract 32 HP:0007971

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nuclear cataract
cortical cataract
punctate lamellar cataract
cysts in anterior cortex

Clinical features from OMIM:

611391

Drugs & Therapeutics for Cataract 33, Multiple Types

Drugs for Cataract 33, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antioxidants
2 Protective Agents
3 Nutrients

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Evaluation of Nutrition Status in Persons With Age-Related Macular Degeneration Completed NCT03326401

Search NIH Clinical Center for Cataract 33, Multiple Types

Genetic Tests for Cataract 33, Multiple Types

Genetic tests related to Cataract 33, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract 33, Multiple Types 29 BFSP1

Anatomical Context for Cataract 33, Multiple Types

MalaCards organs/tissues related to Cataract 33, Multiple Types:

41
Cortex, Eye, Endothelial

Publications for Cataract 33, Multiple Types

Articles related to Cataract 33, Multiple Types:

(show all 13)
# Title Authors PMID Year
1
Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. 8 71
28450710 2017
2
A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. 8 71
24379646 2013
3
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. 8 71
17225135 2007
4
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 8
26694549 2016
5
Wavefront aberrations and retinal image quality in different lenticular opacity types and densities. 38
29127310 2017
6
Intracameral interleukin 1β, 6, 8, 10, 12p, tumor necrosis factor α and vascular endothelial growth factor and axial length in patients with cataract. 38
25679504 2015
7
Risk of radiation retinopathy in patients with orbital and ocular lymphoma. 38
22592046 2012
8
Global estimates of visual impairment: 2010. 38
22133988 2012
9
[Frequency and causes of blindness and poor vision in Congolese diabetic patients]. 38
20093218 2009
10
Could oxidative stress associate with age products in cataractogenesis? 38
18696342 2008
11
Surgical treatment outcomes of congenital and juvenile cataracts. 38
16281733 2005
12
Adjuvant methods in macular hole surgery: intraoperative plasma-thrombin mixture and postoperative fluid-gas exchange. 38
11371086 2001
13
Analysis of 87 cases with Vogt-Koyanagi-Harada disease. 38
10913650 2000

Variations for Cataract 33, Multiple Types

ClinVar genetic disease variations for Cataract 33, Multiple Types:

6 (show all 18)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BFSP1 NM_001195.5(BFSP1): c.1042G> A (p.Asp348Asn) single nucleotide variant Pathogenic rs1085307126 20:17477583-17477583 20:17496938-17496938
2 BFSP1 NM_001195.5(BFSP1): c.1042+3A> G single nucleotide variant Pathogenic rs1085307127 20:17477580-17477580 20:17496935-17496935
3 BFSP1 NM_001195.5(BFSP1): c.736-1384_957-66del deletion Pathogenic 20:17477734-17481069 20:17497089-17500424
4 BFSP1 NM_001195.5(BFSP1): c.1936G> A (p.Val646Met) single nucleotide variant Uncertain significance 20:17474781-17474781 20:17494136-17494136
5 BFSP1 NM_001195.5(BFSP1): c.374G> A (p.Ser125Asn) single nucleotide variant Uncertain significance 20:17511601-17511601 20:17530956-17530956
6 BFSP1 NM_001195.5(BFSP1): c.1402G> C (p.Glu468Gln) single nucleotide variant Uncertain significance rs780229198 20:17475315-17475315 20:17494670-17494670
7 BFSP1 NM_001195.5(BFSP1): c.1937delinsAA (p.Val646fs) indel Uncertain significance rs1555799947 20:17474780-17474780 20:17494135-17494135
8 BFSP1 NM_001195.5(BFSP1): c.1939G> C (p.Glu647Gln) single nucleotide variant Likely benign rs148119487 20:17474778-17474778 20:17494133-17494133
9 BFSP1 NM_001195.5(BFSP1): c.1775C> T (p.Ala592Val) single nucleotide variant Likely benign rs145703098 20:17474942-17474942 20:17494297-17494297
10 BFSP1 NM_001195.5(BFSP1): c.956+7G> C single nucleotide variant Likely benign rs202146533 20:17479458-17479458 20:17498813-17498813
11 BFSP1 NM_001195.5(BFSP1): c.1437C> T (p.Tyr479=) single nucleotide variant Likely benign rs760220303 20:17475280-17475280 20:17494635-17494635
12 BFSP1 NM_001195.5(BFSP1): c.1148A> G (p.Asn383Ser) single nucleotide variant Benign rs150798461 20:17475569-17475569 20:17494924-17494924
13 BFSP1 NM_001195.5(BFSP1): c.137G> C (p.Gly46Ala) single nucleotide variant Benign rs143850362 20:17511838-17511838 20:17531193-17531193
14 BFSP1 NM_001195.5(BFSP1): c.1125G> T (p.Glu375Asp) single nucleotide variant Benign rs139124891 20:17475592-17475592 20:17494947-17494947
15 BFSP1 NM_001195.5(BFSP1): c.762A> G (p.Lys254=) single nucleotide variant Benign rs35042144 20:17479659-17479659 20:17499014-17499014
16 BFSP1 NM_001195.5(BFSP1): c.675G> A (p.Leu225=) single nucleotide variant Benign rs140834233 20:17489594-17489594 20:17508949-17508949
17 BFSP1 NM_001195.5(BFSP1): c.1995_1996del (p.Ter666LysextTer?) deletion Benign rs548358901 20:17474721-17474722 20:17494076-17494077
18 BFSP1 NM_001195.5(BFSP1): c.106_107delinsTT (p.Ala36Phe) indel Benign rs886038419 20:17511868-17511869 20:17531223-17531224

UniProtKB/Swiss-Prot genetic disease variations for Cataract 33, Multiple Types:

74
# Symbol AA change Variation ID SNP ID
1 BFSP1 p.Asp348Asn VAR_078861

Expression for Cataract 33, Multiple Types

Search GEO for disease gene expression data for Cataract 33, Multiple Types.

Pathways for Cataract 33, Multiple Types

GO Terms for Cataract 33, Multiple Types

Sources for Cataract 33, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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