CTRCT33
MCID: CTR166
MIFTS: 26

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 75 29 6
Ctrct33 57 75
Cataract, Cortical, Juvenile-Onset 13
Cortical Juvenile-Onset Cataract 75
Cortical Cataract 33 75
Cataract 33 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
cataracts first documented in early childhood


HPO:

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


Classifications:



External Ids:

OMIM 57 611391
MeSH 44 D002386
UMLS 73 C3808107

Summaries for Cataract 33, Multiple Types

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include eye and cortex, and related phenotypes are nuclear cataract and lamellar 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

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

Human phenotypes related to Cataract 33, Multiple Types:

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

Drugs & Therapeutics for Cataract 33, Multiple Types

Search Clinical Trials , 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
Eye, Cortex

Publications for Cataract 33, Multiple Types

Variations for Cataract 33, Multiple Types

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

75
# Symbol AA change Variation ID SNP ID
1 BFSP1 p.Asp348Asn VAR_078861

ClinVar genetic disease variations for Cataract 33, Multiple Types:

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 BFSP1 NG_012423.2: g.73797_77132del deletion Pathogenic
2 BFSP1 NM_001195.4(BFSP1): c.1995_1996delTT (p.Ter666Lysfs) deletion Benign rs548358901 GRCh37 Chromosome 20, 17474721: 17474722
3 BFSP1 NM_001195.4(BFSP1): c.1995_1996delTT (p.Ter666Lysfs) deletion Benign rs548358901 GRCh38 Chromosome 20, 17494076: 17494077
4 BFSP1 NM_001195.4(BFSP1): c.106_107delGCinsTT (p.Ala36Phe) indel Benign rs886038419 GRCh38 Chromosome 20, 17531223: 17531224
5 BFSP1 NM_001195.4(BFSP1): c.106_107delGCinsTT (p.Ala36Phe) indel Benign rs886038419 GRCh37 Chromosome 20, 17511868: 17511869
6 BFSP1 NM_001195.4(BFSP1): c.1042G> A (p.Asp348Asn) single nucleotide variant Pathogenic rs1085307126 GRCh38 Chromosome 20, 17496938: 17496938
7 BFSP1 NM_001195.4(BFSP1): c.1042G> A (p.Asp348Asn) single nucleotide variant Pathogenic rs1085307126 GRCh37 Chromosome 20, 17477583: 17477583
8 BFSP1 NM_001195.4(BFSP1): c.1042+3A> G single nucleotide variant Pathogenic rs1085307127 GRCh37 Chromosome 20, 17477580: 17477580
9 BFSP1 NM_001195.4(BFSP1): c.1042+3A> G single nucleotide variant Pathogenic rs1085307127 GRCh38 Chromosome 20, 17496935: 17496935
10 BFSP1 NM_001195.4(BFSP1): c.137G> C (p.Gly46Ala) single nucleotide variant Benign rs143850362 GRCh37 Chromosome 20, 17511838: 17511838
11 BFSP1 NM_001195.4(BFSP1): c.137G> C (p.Gly46Ala) single nucleotide variant Benign rs143850362 GRCh38 Chromosome 20, 17531193: 17531193
12 BFSP1 NM_001195.4(BFSP1): c.1125G> T (p.Glu375Asp) single nucleotide variant Benign rs139124891 GRCh37 Chromosome 20, 17475592: 17475592
13 BFSP1 NM_001195.4(BFSP1): c.1125G> T (p.Glu375Asp) single nucleotide variant Benign rs139124891 GRCh38 Chromosome 20, 17494947: 17494947
14 BFSP1 NM_001195.4(BFSP1): c.762A> G (p.Lys254=) single nucleotide variant Benign rs35042144 GRCh37 Chromosome 20, 17479659: 17479659
15 BFSP1 NM_001195.4(BFSP1): c.762A> G (p.Lys254=) single nucleotide variant Benign rs35042144 GRCh38 Chromosome 20, 17499014: 17499014
16 BFSP1 NM_001195.4(BFSP1): c.1775C> T (p.Ala592Val) single nucleotide variant Likely benign rs145703098 GRCh37 Chromosome 20, 17474942: 17474942
17 BFSP1 NM_001195.4(BFSP1): c.1775C> T (p.Ala592Val) single nucleotide variant Likely benign rs145703098 GRCh38 Chromosome 20, 17494297: 17494297
18 BFSP1 NM_001195.4(BFSP1): c.1148A> G (p.Asn383Ser) single nucleotide variant Benign rs150798461 GRCh37 Chromosome 20, 17475569: 17475569
19 BFSP1 NM_001195.4(BFSP1): c.1148A> G (p.Asn383Ser) single nucleotide variant Benign rs150798461 GRCh38 Chromosome 20, 17494924: 17494924
20 BFSP1 NM_001195.4(BFSP1): c.956+7G> C single nucleotide variant Likely benign rs202146533 GRCh37 Chromosome 20, 17479458: 17479458
21 BFSP1 NM_001195.4(BFSP1): c.956+7G> C single nucleotide variant Likely benign rs202146533 GRCh38 Chromosome 20, 17498813: 17498813
22 BFSP1 NM_001195.4(BFSP1): c.1437C> T (p.Tyr479=) single nucleotide variant Likely benign rs760220303 GRCh37 Chromosome 20, 17475280: 17475280
23 BFSP1 NM_001195.4(BFSP1): c.1437C> T (p.Tyr479=) single nucleotide variant Likely benign rs760220303 GRCh38 Chromosome 20, 17494635: 17494635
24 BFSP1 NM_001195.4(BFSP1): c.1402G> C (p.Glu468Gln) single nucleotide variant Uncertain significance rs780229198 GRCh37 Chromosome 20, 17475315: 17475315
25 BFSP1 NM_001195.4(BFSP1): c.1402G> C (p.Glu468Gln) single nucleotide variant Uncertain significance rs780229198 GRCh38 Chromosome 20, 17494670: 17494670
26 BFSP1 NM_001195.4(BFSP1): c.675G> A (p.Leu225=) single nucleotide variant Benign rs140834233 GRCh37 Chromosome 20, 17489594: 17489594
27 BFSP1 NM_001195.4(BFSP1): c.675G> A (p.Leu225=) single nucleotide variant Benign rs140834233 GRCh38 Chromosome 20, 17508949: 17508949
28 BFSP1 NM_001195.4(BFSP1): c.1939G> C (p.Glu647Gln) single nucleotide variant Likely benign rs148119487 GRCh37 Chromosome 20, 17474778: 17474778
29 BFSP1 NM_001195.4(BFSP1): c.1939G> C (p.Glu647Gln) single nucleotide variant Likely benign rs148119487 GRCh38 Chromosome 20, 17494133: 17494133
30 BFSP1 NM_001195.4(BFSP1): c.1937delTinsAA (p.Val646Glufs) indel Uncertain significance GRCh37 Chromosome 20, 17474780: 17474780
31 BFSP1 NM_001195.4(BFSP1): c.1937delTinsAA (p.Val646Glufs) indel Uncertain significance GRCh38 Chromosome 20, 17494135: 17494135
32 BFSP1 NM_001195.4(BFSP1): c.1936G> A (p.Val646Met) single nucleotide variant Uncertain significance rs145017887 GRCh37 Chromosome 20, 17474781: 17474781
33 BFSP1 NM_001195.4(BFSP1): c.1936G> A (p.Val646Met) single nucleotide variant Uncertain significance rs145017887 GRCh38 Chromosome 20, 17494136: 17494136

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 ExPASy
19 FMA
28 GO
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31 HMDB
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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