CTRCT31
MCID: CTR129
MIFTS: 30

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 58 76
Cataract, Posterior Polar, 3 58 54 30 13 6 74
Ctpp3 58 12 54 76
Ctrct31 58 12 76
Cataract 31 Multiple Types 12 15
Posterior Polar Cataract 3 12 76
Cpp3 12 76
Cataract, Posterior Polar, 3; Ctpp3; Cpp3 58
Cataract, Type 31, Multiple Types ) 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset is usually in childhood


HPO:

33
cataract 31, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110265
OMIM 58 605387
MeSH 45 D002386
ICD10 34 Q12.0
MedGen 43 C1854311
UMLS 74 C1854311

Summaries for Cataract 31, Multiple Types

UniProtKB/Swiss-Prot : 76 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 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 : 58 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:

33
# Description HPO Frequency HPO Source Accession
1 nuclear cataract 33 HP:0100018
2 posterior subcapsular cataract 33 HP:0007787
3 anterior subcapsular cataract 33 HP:0010923

Symptoms via clinical synopsis from OMIM:

58
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 30 CHMP4B

Anatomical Context for Cataract 31, Multiple Types

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

42
Eye

Publications for Cataract 31, Multiple Types

Articles related to Cataract 31, Multiple Types:

# Title Authors Year
1
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. ( 17701905 )
2007
2
Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family. ( 10682967 )
2000

Variations for Cataract 31, Multiple Types

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

76
# Symbol AA change Variation ID SNP ID
1 CHMP4B p.Asp129Val VAR_037579 rs118203965
2 CHMP4B p.Glu161Lys VAR_037580 rs118203966

ClinVar genetic disease variations for Cataract 31, Multiple Types:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHMP4B NM_176812.4(CHMP4B): c.386A> T (p.Asp129Val) single nucleotide variant Pathogenic rs118203965 GRCh37 Chromosome 20, 32438775: 32438775
2 CHMP4B NM_176812.4(CHMP4B): c.386A> T (p.Asp129Val) single nucleotide variant Pathogenic rs118203965 GRCh38 Chromosome 20, 33850969: 33850969
3 CHMP4B NM_176812.4(CHMP4B): c.481G> A (p.Glu161Lys) single nucleotide variant Pathogenic rs118203966 GRCh37 Chromosome 20, 32438870: 32438870
4 CHMP4B NM_176812.4(CHMP4B): c.481G> A (p.Glu161Lys) single nucleotide variant Pathogenic rs118203966 GRCh38 Chromosome 20, 33851064: 33851064
5 CHMP4B NM_176812.4(CHMP4B): c.558C> T (p.Pro186=) single nucleotide variant Benign rs79766928 GRCh37 Chromosome 20, 32439957: 32439957
6 CHMP4B NM_176812.4(CHMP4B): c.558C> T (p.Pro186=) single nucleotide variant Benign rs79766928 GRCh38 Chromosome 20, 33852151: 33852151

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 CHMP4B GABARAP MYH4 MYO5A
2
Show member pathways
11.33 CHMP4B GABARAP
3 10.87 MYH4 MYO5A
4 10.75 MYH4 MYO5A
5 10.4 MYH4 MYO5A

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 CHMP4B MYO5A
2 myosin complex GO:0016459 8.96 MYH4 MYO5A
3 smooth endoplasmic reticulum GO:0005790 8.62 GABARAP MYO5A

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 CHMP4B GABARAP MYO5A
2 autophagy GO:0006914 9.26 CHMP4B GABARAP
3 macroautophagy GO:0016236 8.96 CHMP4B GABARAP
4 actin filament-based movement GO:0030048 8.62 MYH4 MYO5A

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 MYH4 MYO5A
2 microfilament motor activity GO:0000146 8.62 MYH4 MYO5A

Sources for Cataract 31, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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