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 56 73 29 6
Ctrct33 56 73
Cataract, Cortical, Juvenile-Onset 13
Cortical Juvenile-Onset Cataract 73
Cortical Cataract 33 73
Cataract 33 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
cataracts first documented in early childhood


HPO:

31
cataract 33, multiple types:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 611391
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
UMLS 71 C3808107

Summaries for Cataract 33, Multiple Types

UniProtKB/Swiss-Prot : 73 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 Nutrients and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, cortex and endothelial, and related phenotypes are nuclear cataract and cortical cataract

OMIM : 56 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:

31
# Description HPO Frequency HPO Source Accession
1 nuclear cataract 31 HP:0100018
2 cortical cataract 31 HP:0100019
3 lamellar cataract 31 HP:0007971

Symptoms via clinical synopsis from OMIM:

56
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 Nutrients
2 Protective Agents
3 Antioxidants

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:

40
Eye, Cortex, Endothelial

Publications for Cataract 33, Multiple Types

Articles related to Cataract 33, Multiple Types:

(show all 14)
# 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. 56 6
28450710 2017
2
A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. 56 6
24379646 2013
3
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. 56 6
17225135 2007
4
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 56
26694549 2016
5
Survey of Ehlers-Danlos Patients' ophthalmic surgery experiences. 61
31989797 2020
6
Wavefront aberrations and retinal image quality in different lenticular opacity types and densities. 61
29127310 2017
7
Intracameral interleukin 1β, 6, 8, 10, 12p, tumor necrosis factor α and vascular endothelial growth factor and axial length in patients with cataract. 61
25679504 2015
8
Risk of radiation retinopathy in patients with orbital and ocular lymphoma. 61
22592046 2012
9
Global estimates of visual impairment: 2010. 61
22133988 2012
10
[Frequency and causes of blindness and poor vision in Congolese diabetic patients]. 61
20093218 2009
11
Could oxidative stress associate with age products in cataractogenesis? 61
18696342 2008
12
Surgical treatment outcomes of congenital and juvenile cataracts. 61
16281733 2005
13
Adjuvant methods in macular hole surgery: intraoperative plasma-thrombin mixture and postoperative fluid-gas exchange. 61
11371086 2001
14
Analysis of 87 cases with Vogt-Koyanagi-Harada disease. 61
10913650 2000

Variations for Cataract 33, Multiple Types

ClinVar genetic disease variations for Cataract 33, Multiple Types:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BFSP1 NM_001195.5(BFSP1):c.736-1384_957-66deldeletion Pathogenic 6497 20:17477734-17481069 20:17497089-17500424
2 BFSP1 NM_001195.5(BFSP1):c.1042G>A (p.Asp348Asn)SNV Pathogenic 425558 rs1085307126 20:17477583-17477583 20:17496938-17496938
3 BFSP1 NM_001195.5(BFSP1):c.1042+3A>GSNV Pathogenic 425559 rs1085307127 20:17477580-17477580 20:17496935-17496935
4 BFSP1 NM_001195.5(BFSP1):c.1402G>C (p.Glu468Gln)SNV Uncertain significance 541140 rs780229198 20:17475315-17475315 20:17494670-17494670
5 BFSP1 NM_001195.5(BFSP1):c.1937delinsAA (p.Val646fs)indel Uncertain significance 541141 rs1555799947 20:17474780-17474780 20:17494135-17494135
6 BFSP1 NM_001195.5(BFSP1):c.1936G>A (p.Val646Met)SNV Uncertain significance 570329 rs145017887 20:17474781-17474781 20:17494136-17494136
7 BFSP1 NM_001195.5(BFSP1):c.374G>A (p.Ser125Asn)SNV Uncertain significance 648073 20:17511601-17511601 20:17530956-17530956
8 BFSP1 NM_001195.5(BFSP1):c.1939G>C (p.Glu647Gln)SNV Likely benign 541143 rs148119487 20:17474778-17474778 20:17494133-17494133
9 BFSP1 NM_001195.5(BFSP1):c.1775C>T (p.Ala592Val)SNV Likely benign 474090 rs145703098 20:17474942-17474942 20:17494297-17494297
10 BFSP1 NM_001195.5(BFSP1):c.956+7G>CSNV Likely benign 474092 rs202146533 20:17479458-17479458 20:17498813-17498813
11 BFSP1 NM_001195.5(BFSP1):c.1437C>T (p.Tyr479=)SNV Likely benign 541144 rs760220303 20:17475280-17475280 20:17494635-17494635

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

73
# Symbol AA change Variation ID SNP ID
1 BFSP1 p.Asp348Asn VAR_078861 rs108530712

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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