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 Oral diseases Neuronal diseases Nephrological 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 evans' syndrome and congenital disorder of glycosylation, type ia. An important gene associated with Cataract 31, Multiple Types is CHMP4B (Charged Multivesicular Body Protein 4B), and among its related pathways/superpathways are Kaposi's sarcoma-associated herpesvirus infection and Colorectal Cancer Metastasis. Affiliated tissues include eye, 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)

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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:

#	Related Disease	Score	Top Affiliating Genes
1	evans' syndrome	10.0	HP TGFB1
2	congenital disorder of glycosylation, type ia	9.8	F9 HP
3	cyclosporiasis	9.8	GGT1 GGT2
4	algoneurodystrophy	9.8	GGT1 GGT2
5	ethmoid sinus cancer	9.7	GGT1 GGT2
6	ethmoid sinus adenocarcinoma	9.7	GGT1 GGT2
7	hepatic tuberculosis	9.6	GGT1 GGT2
8	periampullary adenoma	9.5	GGT1 GGT2 KRAS
9	colloid carcinoma of the pancreas	9.5	GGT1 GGT2 KRAS
10	pancreatic cystadenocarcinoma	9.4	GGT1 GGT2 KRAS

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:
posterior subcapsular cataract, progressive
anterior subcapsular cataract
nuclear cataract

Clinical features from OMIM:

605387

Human phenotypes related to Cataract 31, Multiple Types:

³²

#	Description	HPO Source Accession
1	posterior subcapsular cataract ³²	HP:0007787
2	anterior subcapsular cataract ³²	HP:0010923
3	nuclear cataract ³²	HP:0100018

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	TGFB1 MAPK3

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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

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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 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CHMP4B	Charged Multivesicular Body Protein 4B	Protein Coding	1327.85	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	10682967 17701905
2	BFSP1	Beaded Filament Structural Protein 1	Protein Coding	16.19	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	RPS24	Ribosomal Protein S24	Protein Coding	15.77	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	GABARAP	GABA Type A Receptor-Associated Protein	Protein Coding	15.71	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	F9	Coagulation Factor IX	Protein Coding	14.09	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	13.77	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	HP	Haptoglobin	Protein Coding	13.64	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	13.24	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	13.21	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	ACP1	Acid Phosphatase 1	Protein Coding	5.39	DISEASES inferred ¹⁵
11	GGT2	Gamma-Glutamyltransferase 2	Protein Coding	4.73	DISEASES inferred ¹⁵
12	GGT1	Gamma-Glutamyltransferase 1	Protein Coding	4.71	DISEASES inferred ¹⁵
13	GOLPH3	Golgi Phosphoprotein 3	Protein Coding	4.35	DISEASES inferred ¹⁵
14	ENSG00000264813		Protein Coding	3.36	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 18)

#	Super pathways	Score	Top Affiliating Genes
1	Kaposi's sarcoma-associated herpesvirus infection ³⁷ Show member pathways Hepatitis B ³⁷	12.08	GABARAP KRAS MAPK3 TGFB1
2	Colorectal Cancer Metastasis ⁶⁴	11.95	KRAS MAPK3 TGFB1
3	Cellular senescence (KEGG) ³⁷	11.92	KRAS MAPK3 TGFB1
4	NRF2 pathway ¹	11.81	GGT1 GGT2 TGFB1
5	Apelin signaling pathway ³⁷	11.75	GABARAP KRAS MAPK3
6	Autophagy - animal ³⁷	11.65	GABARAP KRAS MAPK3
7	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.33	KRAS MAPK3 TGFB1
8	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁴ Show member pathways TOB in T-Cell Signaling ⁶⁴	11.24	MAPK3 TGFB1
9	TGF-beta Signaling Pathways ⁶⁵	11.11	KRAS MAPK3 TGFB1
10	FoxO signaling pathway ³⁷ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.06	GABARAP KRAS MAPK3 TGFB1
11	Extracellular vesicle-mediated signaling in recipient cells ¹	11.05	KRAS TGFB1
12	ALK1 signaling events ¹ Show member pathways ALK1 pathway ¹	11	MAPK3 TGFB1
13	Eicosanoid Synthesis ¹	10.9	GGT1 GGT2
14	Aflatoxin activation and detoxification ⁶⁶	10.87	GGT1 GGT2
15	MNAR-PELP1 and Estrogen Receptor Interaction ⁶⁴	10.86	KRAS MAPK3
16	Serotonin Receptor 2 and ELK-SRF/GATA4 signaling ¹	10.76	KRAS MAPK3
17	TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition ¹	10.66	MAPK3 TGFB1
18	Syndecan-1-mediated signaling events ¹	10.55	MAPK3 TGFB1

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GO Terms for Cataract 31, Multiple Types

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

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	9.65	ENSG00000264813 F9 GGT1 GGT2 HP
2	positive regulation of protein phosphorylation	GO:0001934	9.54	KRAS MAPK3 TGFB1
3	positive regulation of histone acetylation	GO:0035066	9.32	MAPK3 TGFB1
4	glutathione catabolic process	GO:0006751	9.16	GGT1 GGT2
5	leukotriene D4 biosynthetic process	GO:1901750	8.96	GGT1 GGT2
6	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	8.62	GGT1 GGT2

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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

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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