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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital lens malformations

Congenital cataract

External Ids:

OMIM ⁵⁷ 605387

Disease Ontology ¹² DOID:0110265

ICD10 ³³ Q12.0

MedGen ⁴² C1854311

MeSH ⁴⁴ D002386

SNOMED-CT via HPO ⁶⁹ 263681008 315353005 315352000 more

UMLS ⁷³ C1854311

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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)

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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 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:

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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 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

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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, Posterior Polar, 3 ²⁹	CHMP4B

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Anatomical Context for Cataract 31, Multiple Types

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

⁴¹

Eye, Pancreas

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Publications for Cataract 31, Multiple Types

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Genes for Cataract 31, Multiple Types

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

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CHMP4B	Charged Multivesicular Body Protein 4B	Protein Coding	1327.69	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	17701905 10682967
2	BFSP1	Beaded Filament Structural Protein 1	Protein Coding	16.1	DISEASES inferred ¹⁵
3	RPS24	Ribosomal Protein S24	Protein Coding	15.67	DISEASES inferred ¹⁵
4	GABARAP	GABA Type A Receptor-Associated Protein	Protein Coding	15.55	DISEASES inferred ¹⁵
5	F9	Coagulation Factor IX	Protein Coding	13.95	DISEASES inferred ¹⁵
6	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	13.57	DISEASES inferred ¹⁵
7	HP	Haptoglobin	Protein Coding	13.53	DISEASES inferred ¹⁵
8	IL1B	Interleukin 1 Beta	Protein Coding	13.33	DISEASES inferred ¹⁵
9	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	13.1	DISEASES inferred ¹⁵
10	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	13.03	DISEASES inferred ¹⁵
11	ACP1	Acid Phosphatase 1	Protein Coding	5.28	DISEASES inferred ¹⁵
12	GGT2	Gamma-Glutamyltransferase 2	Protein Coding	4.59	DISEASES inferred ¹⁵
13	GGT1	Gamma-Glutamyltransferase 1	Protein Coding	4.57	DISEASES inferred ¹⁵
14	GOLPH3	Golgi Phosphoprotein 3	Protein Coding	4.2	DISEASES inferred ¹⁵
15	HSPA4	Heat Shock Protein Family A (Hsp70) Member 4	Protein Coding	3.41	DISEASES inferred ¹⁵
16	ENSG00000264813		Protein Coding	3.28	DISEASES inferred ¹⁵

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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

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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

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

(show all 19)

#	Super pathways	Score	Top Affiliating Genes
1	Human cytomegalovirus infection ³⁷ Show member pathways Hepatitis B ³⁷ Human immunodeficiency virus 1 infection ³⁷ Kaposi sarcoma-associated herpesvirus infection ³⁷	12.81	GABARAP IL1B KRAS MAPK3 TGFB1
2	NRF2 pathway ¹	11.9	GGT1 GGT2 TGFB1
3	T cell receptor signaling pathway ³⁷ Show member pathways T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	11.87	IL1B KRAS MAPK3 TGFB1
4	Apelin signaling pathway ³⁷	11.85	GABARAP KRAS MAPK3
5	Autophagy - animal ³⁷	11.78	GABARAP KRAS MAPK3
6	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.77	IL1B KRAS MAPK3 TGFB1
7	Osteoclast differentiation ³⁷	11.76	IL1B MAPK3 TGFB1
8	Spinal Cord Injury ¹	11.66	IL1B MAPK3 TGFB1
9	Senescence and Autophagy in Cancer ¹	11.52	GABARAP IL1B TGFB1
10	TGF-beta Signaling Pathways ⁶⁵	11.42	KRAS MAPK3 TGFB1
11	FoxO signaling pathway ³⁷ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.4	GABARAP KRAS MAPK3 TGFB1
12	Eicosanoid Synthesis ¹	10.96	GGT1 GGT2
13	Aflatoxin activation and detoxification ⁶⁶	10.94	GGT1 GGT2
14	MNAR-PELP1 and Estrogen Receptor Interaction ⁶⁴	10.93	KRAS MAPK3
15	AGE-RAGE signaling pathway in diabetic complications ³⁷	10.92	IL1B KRAS MAPK3 TGFB1
16	Cellular roles of Anthrax toxin ¹	10.89	IL1B MAPK3
17	Serotonin Receptor 2 and ELK-SRF/GATA4 signaling ¹	10.81	KRAS MAPK3
18	TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition ¹	10.69	MAPK3 TGFB1
19	Syndecan-1-mediated signaling events ¹	10.6	MAPK3 TGFB1

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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	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

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Cataract 31, Multiple Types:

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

Genes for Cataract 31, Multiple Types

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

Variations for Cataract 31, Multiple Types

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

ClinVar genetic disease variations for Cataract 31, Multiple Types:

Expression for Cataract 31, Multiple Types

Pathways for Cataract 31, Multiple Types

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

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