CTRCT31
MCID: CTR129
MIFTS: 40

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 75
Cataract, Posterior Polar, 3 57 53 29 13 6 73
Ctpp3 57 12 53 75
Ctrct31 57 12 75
Cataract 31 Multiple Types 12 15
Posterior Polar Cataract 3 12 75
Cpp3 12 75
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:

OMIM 57 605387
Disease Ontology 12 DOID:0110265
ICD10 33 Q12.0
MedGen 42 C1854311
MeSH 44 D002386
UMLS 73 C1854311

Summaries for Cataract 31, Multiple Types

UniProtKB/Swiss-Prot : 75 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 gastric cancer, hereditary diffuse and laryngitis. An important gene associated with Cataract 31, Multiple Types is CHMP4B (Charged Multivesicular Body Protein 4B), and among its related pathways/superpathways are Human cytomegalovirus infection and NRF2 pathway. Affiliated tissues include eye and pancreas, 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)

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 46, Juvenile-Onset 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 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 17)
# Related Disease Score Top Affiliating Genes
1 gastric cancer, hereditary diffuse 10.1 IL1B KRAS
2 laryngitis 10.1 IL1B TGFB1
3 cyclosporiasis 10.0 GGT1 GGT2
4 respiratory system disease 10.0 IL1B KRAS TGFB1
5 algoneurodystrophy 10.0 GGT1 GGT2
6 evans' syndrome 10.0 HP TGFB1
7 ethmoid sinus cancer 10.0 GGT1 GGT2
8 ethmoid sinus adenocarcinoma 10.0 GGT1 GGT2
9 hepatic tuberculosis 10.0 GGT1 GGT2
10 congenital disorder of glycosylation, type ia 10.0 F9 HP
11 periampullary adenoma 9.9 GGT1 GGT2 KRAS
12 pancreatic cystadenocarcinoma 9.9 GGT1 GGT2 KRAS
13 colloid carcinoma of the pancreas 9.9 GGT1 GGT2 KRAS
14 acute vascular insufficiency of intestine 9.9 HSPA4 IL1B
15 parasitic protozoa infectious disease 9.9 HP HSPA4 IL1B
16 gastrointestinal system disease 9.8 GGT1 GGT2 IL1B KRAS
17 leishmaniasis 9.8 HSPA4 IL1B TGFB1

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

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

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 8.92 MAPK3 TGFB1
2 Decreased viability with paclitaxel GR00179-A-3 8.92 MAPK3 TGFB1

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, Pancreas

Publications for Cataract 31, Multiple Types

Variations for Cataract 31, Multiple Types

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

75
# 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:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 GABARAP IL1B KRAS MAPK3 TGFB1
2 11.9 GGT1 GGT2 TGFB1
3
Show member pathways
11.87 IL1B KRAS MAPK3 TGFB1
4 11.85 GABARAP KRAS MAPK3
5 11.78 GABARAP KRAS MAPK3
6
Show member pathways
11.77 IL1B KRAS MAPK3 TGFB1
7 11.76 IL1B MAPK3 TGFB1
8 11.66 IL1B MAPK3 TGFB1
9 11.52 GABARAP IL1B TGFB1
10 11.42 KRAS MAPK3 TGFB1
11
Show member pathways
11.4 GABARAP KRAS MAPK3 TGFB1
12 10.96 GGT1 GGT2
13 10.94 GGT1 GGT2
14 10.93 KRAS MAPK3
15 10.92 IL1B KRAS MAPK3 TGFB1
16 10.89 IL1B MAPK3
17 10.81 KRAS MAPK3
18 10.69 MAPK3 TGFB1
19 10.6 MAPK3 TGFB1

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 extracellular exosome GO:0070062 9.23 ACP1 CHMP4B F9 GGT1 GGT2 HP

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.95 ENSG00000264813 F9 GGT1 GGT2 HP
2 MAPK cascade GO:0000165 9.76 IL1B KRAS MAPK3 TGFB1
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.75 IL1B KRAS TGFB1
4 positive regulation of protein phosphorylation GO:0001934 9.71 IL1B KRAS MAPK3 TGFB1
5 cellular response to mechanical stimulus GO:0071260 9.69 IL1B MAPK3 TGFB1
6 response to lipopolysaccharide GO:0032496 9.67 GGT1 GGT2 IL1B MAPK3
7 glutamate metabolic process GO:0006536 9.57 GGT1 GGT2
8 response to vitamin D GO:0033280 9.56 IL1B TGFB1
9 glutathione catabolic process GO:0006751 9.54 GGT1 GGT2
10 leukotriene D4 biosynthetic process GO:1901750 9.52 GGT1 GGT2
11 cysteine biosynthetic process GO:0019344 9.49 GGT1 GGT2
12 positive regulation of histone phosphorylation GO:0033129 9.48 IL1B MAPK3
13 response to estradiol GO:0032355 9.46 GGT1 GGT2 IL1B TGFB1
14 regulation of immune system process GO:0002682 9.43 GGT1 GGT2
15 lipopolysaccharide-mediated signaling pathway GO:0031663 9.43 IL1B MAPK3 TGFB1
16 peptide modification GO:0031179 9.32 GGT1 GGT2
17 positive regulation of histone acetylation GO:0035066 9.13 IL1B MAPK3 TGFB1
18 zymogen activation GO:0031638 8.8 F9 GGT1 GGT2

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

# Name GO ID Score Top Affiliating Genes
1 glutathione hydrolase activity GO:0036374 8.96 GGT1 GGT2
2 peptidyltransferase activity GO:0000048 8.62 GGT1 GGT2

Sources for Cataract 31, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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