Cataract 31, Multiple Types disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital lens malformations

Congenital cataract

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

SNOMED-CT via HPO ⁶⁸ 263681008 315352000 315353005 more

UMLS ⁷⁰ C1854311

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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)

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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:

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Symptoms & Phenotypes for Cataract 31, Multiple Types

Human phenotypes related to Cataract 31, Multiple Types:

³¹

#	Description	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

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Drugs & Therapeutics for Cataract 31, Multiple Types

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

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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

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Anatomical Context for Cataract 31, Multiple Types

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

⁴⁰

Eye, Cortex

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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	Shiels A...Hanson PI	17701905	2007
2	Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family. ⁵⁷ ⁶	Yamada K...Niikawa N	10682967	2000
3	An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. ⁶¹ ⁵⁷	Yamada K...Niikawa N	10909854	2000
4	Purification, Characterization, and Antioxidant Activity of Polysaccharides Isolated from Cortex Periplocae. ⁶¹	Wang X...Liu P	29088064	2017
5	Effects by periodontitis on pristane-induced arthritis in rats. ⁶¹	Eriksson K...Yucel-Lindberg T	27809921	2016
6	Concentration of antibodies against Porphyromonas gingivalis is increased before the onset of symptoms of rheumatoid arthritis. ⁶¹	Johansson L...Lundberg K	27605245	2016
7	Changes in Holstein cow milk and serum proteins during intramammary infection with three different strains of Staphylococcus aureus. ⁶¹	Kim Y...Karrow N	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	Mirelman D...Walderich B	8813676	1996
9	Evidence for prokaryotic transcription and translation control regions in the human factor IX gene. ⁶¹	Simpson PJ...Zain S	2965665	1987

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Genes for Cataract 31, Multiple Types

Genes related to Cataract 31, Multiple Types (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CHMP4B	Charged Multivesicular Body Protein 4B	Protein Coding	1323.13	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	17701905
2	CRYAA	Crystallin Alpha A	Protein Coding	7.3	DISEASES inferred ¹⁵ ¹⁵
3	AGBL2	AGBL Carboxypeptidase 2	Protein Coding	6.21	DISEASES inferred ¹⁵
4	POLR3E	RNA Polymerase III Subunit E	Protein Coding	6.16	DISEASES inferred ¹⁵
5	BFSP1	Beaded Filament Structural Protein 1	Protein Coding	5.88	DISEASES inferred ¹⁵
6	ENO1	Enolase 1	Protein Coding	5.82	DISEASES inferred ¹⁵
7	TRIM62	Tripartite Motif Containing 62	Protein Coding	5.66	DISEASES inferred ¹⁵
8	KCNE4	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4	Protein Coding	5.61	DISEASES inferred ¹⁵
9	CRYBA1	Crystallin Beta A1	Protein Coding	5.52	DISEASES inferred ¹⁵
10	AGBL3	AGBL Carboxypeptidase 3	Protein Coding	5.28	DISEASES inferred ¹⁵
11	CHMP4A	Charged Multivesicular Body Protein 4A	Protein Coding	5.26	DISEASES inferred ¹⁵
12	AFF4	AF4/FMR2 Family Member 4	Protein Coding	5.21	DISEASES inferred ¹⁵
13	CPZ	Carboxypeptidase Z	Protein Coding	5.18	DISEASES inferred ¹⁵

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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

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Expression for Cataract 31, Multiple Types

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

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Pathways for Cataract 31, Multiple Types

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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

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Sources for Cataract 31, Multiple Types

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Cataract 31, Multiple Types (CTRCT31)

Aliases & Classifications for Cataract 31, Multiple Types

MalaCards integrated aliases for Cataract 31, Multiple Types:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Cataract 31, Multiple Types

Related Diseases for Cataract 31, Multiple Types

Diseases in the Cataract family:

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

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

Symptoms & Phenotypes for Cataract 31, Multiple Types

Human phenotypes related to Cataract 31, Multiple Types:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Drugs & Therapeutics for Cataract 31, Multiple Types

Genetic Tests for Cataract 31, Multiple Types

Genetic tests related to Cataract 31, Multiple Types:

Anatomical Context for Cataract 31, Multiple Types

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

Publications for Cataract 31, Multiple Types

Articles related to Cataract 31, Multiple Types:

Genes for Cataract 31, Multiple Types

Genes related to Cataract 31, Multiple Types (1 elite genes):

Variations for Cataract 31, Multiple Types

ClinVar genetic disease variations for Cataract 31, Multiple Types:

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

Expression 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:

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

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

Sources for Cataract 31, Multiple Types