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

Sources

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:

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: ³⁴

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 ⁵⁸ 605387

MeSH ⁴⁵ D002386

ICD10 ³⁴ Q12.0

MedGen ⁴³ C1854311

SNOMED-CT via HPO ⁷⁰ 263681008 315352000 315353005 more

UMLS ⁷⁴ C1854311

Sources

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 is 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)

Sources

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

Sources

Symptoms & Phenotypes for Cataract 31, Multiple Types

Human phenotypes related to Cataract 31, Multiple Types:

³³

#	Description	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

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

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased Hepatitis C virus replication	GR00180-A-1	8.62	CHMP4B RPS24

Sources

Drugs & Therapeutics for Cataract 31, Multiple Types

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

Sources

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

Sources

Anatomical Context for Cataract 31, Multiple Types

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

⁴²

Eye

Sources

Publications for Cataract 31, Multiple Types

Sources

Genes for Cataract 31, Multiple Types

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

- 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 ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	17701905 10682967
2	BFSP1	Beaded Filament Structural Protein 1	Protein Coding	15.92	DISEASES inferred ¹⁵
3	RPS24	Ribosomal Protein S24	Protein Coding	15.51	DISEASES inferred ¹⁵
4	GABARAP	GABA Type A Receptor-Associated Protein	Protein Coding	15.32	DISEASES inferred ¹⁵
5	ADRA2C	Adrenoceptor Alpha 2C	Protein Coding	14.02	DISEASES inferred ¹⁵

Sources

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	GRCh38	Chromosome 20, 33852151: 33852151
6	CHMP4B	NM_176812.4(CHMP4B): c.558C> T (p.Pro186=)	single nucleotide variant	Benign	rs79766928	GRCh37	Chromosome 20, 32439957: 32439957

Sources

Expression for Cataract 31, Multiple Types

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

Sources

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	Autophagy Pathway ⁶⁶ Show member pathways Autophagy - other ³⁸ Macroautophagy ⁶⁷ Nanoparticle triggered autophagic cell death ¹	10.8	CHMP4B GABARAP

Sources

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	autophagy	GO:0006914	8.96	CHMP4B GABARAP
2	macroautophagy	GO:0016236	8.62	CHMP4B GABARAP

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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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:

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

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

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

Sources for Cataract 31, Multiple Types