CTRCT31
MCID: CTR129
MIFTS: 31

Cataract 31, Multiple Types (CTRCT31)

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

Aliases & Classifications for Cataract 31, Multiple Types

MalaCards integrated aliases for Cataract 31, Multiple Types:

Name: Cataract 31, Multiple Types 57 74
Cataract, Posterior Polar, 3 57 53 29 13 6 72
Ctpp3 57 12 53 74
Ctrct31 57 12 74
Cataract 31 Multiple Types 12 15
Posterior Polar Cataract 3 12 74
Cpp3 12 74
Cataract, Posterior Polar, 3; Ctpp3; Cpp3 57
Cataract, Type 31, Multiple Types 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset is usually in childhood


HPO:

32
cataract 31, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110265
MeSH 44 D002386
ICD10 33 Q12.0
MedGen 42 C1854311
UMLS 72 C1854311

Summaries for Cataract 31, Multiple Types

UniProtKB/Swiss-Prot : 74 Cataract 31, 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. CTRCT31 includes posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular cataracts.

MalaCards based summary : Cataract 31, Multiple Types, is also known as cataract, posterior polar, 3. An important gene associated with Cataract 31, Multiple Types is CHMP4B (Charged Multivesicular Body Protein 4B), and among its related pathways/superpathways are Vesicle-mediated transport and Autophagy Pathway. Affiliated tissues include eye and cortex, and related phenotypes are nuclear cataract and posterior subcapsular cataract

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the CHMP4B gene on chromosome 20q11.

OMIM : 57 Mutations in the CHMP4B gene have been found to cause multiple types of cataract, which have been described as posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 3; CTPP3.' (605387)

Symptoms & Phenotypes for Cataract 31, Multiple Types

Human phenotypes related to Cataract 31, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 nuclear cataract 32 HP:0100018
2 posterior subcapsular cataract 32 HP:0007787
3 anterior subcapsular cataract 32 HP:0010923

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nuclear cataract
anterior subcapsular cataract
posterior subcapsular cataract, progressive

Clinical features from OMIM:

605387

Drugs & Therapeutics for Cataract 31, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 31, Multiple Types

Genetic Tests for Cataract 31, Multiple Types

Genetic tests related to Cataract 31, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract, Posterior Polar, 3 29 CHMP4B

Anatomical Context for Cataract 31, Multiple Types

MalaCards organs/tissues related to Cataract 31, Multiple Types:

41
Eye, Cortex

Publications for Cataract 31, Multiple Types

Articles related to Cataract 31, Multiple Types:

# Title Authors PMID Year
1
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. 8 71
17701905 2007
2
Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family. 8 71
10682967 2000
3
An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. 38 8
10909854 2000
4
Purification, Characterization, and Antioxidant Activity of Polysaccharides Isolated from Cortex Periplocae. 38
29088064 2017
5
Effects by periodontitis on pristane-induced arthritis in rats. 38
27809921 2016
6
Concentration of antibodies against Porphyromonas gingivalis is increased before the onset of symptoms of rheumatoid arthritis. 38
27605245 2016
7
Changes in Holstein cow milk and serum proteins during intramammary infection with three different strains of Staphylococcus aureus. 38
21884610 2011
8
A homologue of the cysteine proteinase gene (ACP1 or Eh-CPp3) of pathogenic Entamoeba histolytica is present in non-pathogenic E. dispar strains. 38
8813676 1996
9
Evidence for prokaryotic transcription and translation control regions in the human factor IX gene. 38
2965665 1987

Variations for Cataract 31, Multiple Types

ClinVar genetic disease variations for Cataract 31, Multiple Types:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CHMP4B NM_176812.5(CHMP4B): c.386A> T (p.Asp129Val) single nucleotide variant Pathogenic rs118203965 20:32438775-32438775 20:33850969-33850969
2 CHMP4B NM_176812.5(CHMP4B): c.481G> A (p.Glu161Lys) single nucleotide variant Pathogenic rs118203966 20:32438870-32438870 20:33851064-33851064
3 CHMP4B NM_176812.5(CHMP4B): c.558C> T (p.Pro186=) single nucleotide variant Benign rs79766928 20:32439957-32439957 20:33852151-33852151

UniProtKB/Swiss-Prot genetic disease variations for Cataract 31, Multiple Types:

74
# Symbol AA change Variation ID SNP ID
1 CHMP4B p.Asp129Val VAR_037579 rs118203965
2 CHMP4B p.Glu161Lys VAR_037580 rs118203966

Expression for Cataract 31, Multiple Types

Search GEO for disease gene expression data for Cataract 31, Multiple Types.

Pathways for Cataract 31, Multiple Types

Pathways related to Cataract 31, Multiple Types according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.03 MYO5A MYH4 GABARAP CHMP4B
2
Show member pathways
11.33 GABARAP CHMP4B
3 10.87 MYO5A MYH4
4 10.75 MYO5A MYH4
5 10.4 MYO5A MYH4

GO Terms for Cataract 31, Multiple Types

Cellular components related to Cataract 31, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 9.16 MYO5A CHMP4B
2 myosin complex GO:0016459 8.96 MYO5A MYH4
3 smooth endoplasmic reticulum GO:0005790 8.62 MYO5A GABARAP

Biological processes related to Cataract 31, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.33 MYO5A GABARAP CHMP4B
2 autophagy GO:0006914 9.26 GABARAP CHMP4B
3 macroautophagy GO:0016236 8.96 GABARAP CHMP4B
4 actin filament-based movement GO:0030048 8.62 MYO5A MYH4

Molecular functions related to Cataract 31, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 8.96 MYO5A MYH4
2 microfilament motor activity GO:0000146 8.62 MYO5A MYH4

Sources for Cataract 31, 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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