CTRCT31
MCID: CTR129
MIFTS: 36

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 72
Cataract, Posterior Polar, 3 57 20 13 70
Cataract 31 Multiple Types 12 29 6 15
Ctpp3 57 12 20 72
Ctrct31 57 12 72
Posterior Polar Cataract 3 12 72
Cpp3 12 72
Cataract, Posterior Polar, 3; Ctpp3; Cpp3 57
Cataract, Type 31, Multiple Types 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset is usually in childhood


HPO:

31
cataract 31, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110265
OMIM® 57 605387
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
MedGen 41 C1854311
UMLS 70 C1854311

Summaries for Cataract 31, Multiple Types

UniProtKB/Swiss-Prot : 72 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, also known as cataract, posterior polar, 3, is related to amblyopia and presbyopia. An important gene associated with Cataract 31, Multiple Types is CHMP4B (Charged Multivesicular Body Protein 4B). Affiliated tissues include eye and cortex, and related phenotypes are posterior subcapsular cataract and anterior 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) (Updated 05-Apr-2021)

Related Diseases for Cataract 31, Multiple Types

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 40 Cataract 10, Multiple Types
Cataract 24 Cataract 3, Multiple Types
Cataract 14, Multiple Types Cataract 9, Multiple Types
Cataract 2, Multiple Types Cataract 31, Multiple Types
Cataract 25 Cataract 26, Multiple Types
Cataract 27 Cataract 28
Cataract 35 Cataract 22, Multiple Types
Cataract 18 Cataract 21, Multiple Types
Cataract 23, Multiple Types Cataract 11, Multiple Types
Cataract 33, Multiple Types Cataract 17, Multiple Types
Cataract 12, Multiple Types Cataract 47
Cataract 34, Multiple Types Cataract 16, Multiple Types
Cataract 36 Cataract 37
Cataract 38 Cataract 39, Multiple Types
Cataract 15, Multiple Types Cataract 19, Multiple Types
Cataract 43 Cataract 44
Cataract 45 Cataract 48
Cataract 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

Diseases related to Cataract 31, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 amblyopia 10.2 CRYAA BFSP1
2 presbyopia 10.2 CRYAA BFSP1
3 eye accommodation disease 10.2 CRYAA BFSP1
4 galactosemia ii 10.1 CRYAA BFSP1
5 early-onset lamellar cataract 10.1 CRYBA1 CRYAA
6 early-onset posterior polar cataract 10.1 CRYBA1 CHMP4B
7 scleral staphyloma 10.1 CRYBA1 CRYAA
8 leukocoria 10.1 CRYBA1 CRYAA
9 lens subluxation 10.1 CRYAA BFSP1
10 senile cataract 10.0 CRYAA BFSP1
11 night blindness, congenital stationary, type 2a 10.0 CRYBA1 CRYAA
12 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 10.0 CHMP4B CHMP4A
13 early-onset nuclear cataract 10.0 CRYBA1 CRYAA BFSP1
14 axenfeld-rieger syndrome, type 3 10.0 CRYBA1 CRYAA BFSP1
15 lens disease 10.0 CRYBA1 CRYAA BFSP1
16 cardiofaciocutaneous syndrome 3 9.9 CPZ AGBL3
17 disuse amblyopia 9.9 CRYAA CHMP4B CHMP4A
18 early-onset non-syndromic cataract 9.9 CRYBA1 CHMP4B BFSP1
19 lynch syndrome i 9.9 CPZ AGBL2
20 cataract 9.9 CRYBA1 CRYAA CHMP4B BFSP1
21 posterior polar cataract 9.9 CRYBA1 CRYAA CHMP4B BFSP1
22 cardiofaciocutaneous syndrome 2 9.8 CPZ AGBL3 AGBL2
23 erythrokeratodermia variabilis et progressiva 1 9.8 CRYBA1 CRYAA
24 cataract 32, multiple types 9.7 CRYBA1 CRYAA CHMP4B CHMP4A
25 cataract 6, multiple types 9.7 CRYBA1 CRYAA CHMP4B CHMP4A
26 cataract 16, multiple types 9.7 CRYBA1 CRYAA CHMP4B CHMP4A
27 cataract 11, multiple types 8.7 CRYBA1 CRYAA CPZ CHMP4B CHMP4A AGBL3

Graphical network of the top 20 diseases related to Cataract 31, Multiple Types:



Diseases related to Cataract 31, Multiple Types

Symptoms & Phenotypes for Cataract 31, Multiple Types

Human phenotypes related to Cataract 31, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 posterior subcapsular cataract 31 HP:0007787
2 anterior subcapsular cataract 31 HP:0010923
3 nuclear cataract 31 HP:0100018

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
anterior subcapsular cataract
nuclear cataract
posterior subcapsular cataract, progressive

Clinical features from OMIM®:

605387 (Updated 05-Apr-2021)

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

26 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.7 ENO1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.7 CRYAA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.7 TRIM62
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-183 9.7 CRYAA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.7 TRIM62
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.7 CRYAA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.7 CRYAA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.7 TRIM62
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.7 CRYAA
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.7 CRYAA
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.7 ENO1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.64 AGBL3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.64 AGBL3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.64 AFF4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-150 9.64 AFF4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.64 ENO1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.64 ENO1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.64 AFF4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.64 AGBL3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.64 AFF4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.64 ENO1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.64 AFF4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.64 AFF4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.64 AGBL3
25 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.64 AGBL3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.64 ENO1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.64 AFF4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.64 AGBL3
29 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.64 AGBL3
30 Increased shRNA abundance (Z-score > 2) GR00366-A-84 9.64 ENO1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.64 ENO1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.64 AGBL3

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 31 Multiple Types 29 CHMP4B

Anatomical Context for Cataract 31, Multiple Types

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

40
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. 57 6
17701905 2007
2
Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family. 57 6
10682967 2000
3
An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. 61 57
10909854 2000
4
Purification, Characterization, and Antioxidant Activity of Polysaccharides Isolated from Cortex Periplocae. 61
29088064 2017
5
Effects by periodontitis on pristane-induced arthritis in rats. 61
27809921 2016
6
Concentration of antibodies against Porphyromonas gingivalis is increased before the onset of symptoms of rheumatoid arthritis. 61
27605245 2016
7
Changes in Holstein cow milk and serum proteins during intramammary infection with three different strains of Staphylococcus aureus. 61
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. 61
8813676 1996
9
Evidence for prokaryotic transcription and translation control regions in the human factor IX gene. 61
2965665 1987

Variations for Cataract 31, Multiple Types

ClinVar genetic disease variations for Cataract 31, Multiple Types:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHMP4B NM_176812.5(CHMP4B):c.386A>T (p.Asp129Val) SNV Pathogenic 1085 rs118203965 GRCh37: 20:32438775-32438775
GRCh38: 20:33850969-33850969
2 CHMP4B NM_176812.5(CHMP4B):c.481G>A (p.Glu161Lys) SNV Pathogenic 1086 rs118203966 GRCh37: 20:32438870-32438870
GRCh38: 20:33851064-33851064
3 CHMP4B NM_176812.5(CHMP4B):c.586T>G (p.Ser196Ala) SNV Uncertain significance 836756 GRCh37: 20:32439985-32439985
GRCh38: 20:33852179-33852179
4 CHMP4B NM_176812.5(CHMP4B):c.558C>T (p.Pro186=) SNV Benign 534366 rs79766928 GRCh37: 20:32439957-32439957
GRCh38: 20:33852151-33852151

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

72
# 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

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 cytoplasmic side of plasma membrane GO:0009898 9.26 CHMP4B CHMP4A
2 multivesicular body GO:0005771 9.16 CHMP4B CHMP4A
3 membrane coat GO:0030117 8.96 CHMP4B CHMP4A
4 ESCRT III complex GO:0000815 8.62 CHMP4B CHMP4A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 mitotic metaphase plate congression GO:0007080 9.52 CHMP4B CHMP4A
2 multivesicular body assembly GO:0036258 9.51 CHMP4B CHMP4A
3 viral life cycle GO:0019058 9.49 CHMP4B CHMP4A
4 nucleus organization GO:0006997 9.48 CHMP4B CHMP4A
5 viral budding via host ESCRT complex GO:0039702 9.46 CHMP4B CHMP4A
6 vacuolar transport GO:0007034 9.43 CHMP4B CHMP4A
7 negative regulation of autophagosome assembly GO:1902902 9.4 CHMP4B CHMP4A
8 midbody abscission GO:0061952 9.37 CHMP4B CHMP4A
9 vesicle budding from membrane GO:0006900 9.32 CHMP4B CHMP4A
10 protein polymerization GO:0051258 9.26 CHMP4B CHMP4A
11 late endosome to vacuole transport via multivesicular body sorting pathway GO:0032511 9.16 CHMP4B CHMP4A
12 posttranslational protein targeting to endoplasmic reticulum membrane GO:0006620 8.96 CHMP4B CHMP4A
13 protein side chain deglutamylation GO:0035610 8.62 AGBL3 AGBL2

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

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 9.43 CPZ AGBL3 AGBL2
2 carboxypeptidase activity GO:0004180 9.33 CPZ AGBL3 AGBL2
3 metallocarboxypeptidase activity GO:0004181 9.13 CPZ AGBL3 AGBL2
4 structural constituent of eye lens GO:0005212 8.8 CRYBA1 CRYAA BFSP1

Sources for Cataract 31, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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