Early-Onset Nuclear Cataract disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Early-Onset Nuclear Cataract

MalaCards integrated aliases for Early-Onset Nuclear Cataract:

Name: Early-Onset Nuclear Cataract ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

early-onset nuclear cataract
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye 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

Orphanet: ⁵⁹

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁹ ORPHA98991

UMLS via Orphanet ⁷⁴ C0392557 C1112705

ICD10 via Orphanet ³⁴ Q12.0

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Summaries for Early-Onset Nuclear Cataract

MalaCards based summary : Early-Onset Nuclear Cataract is related to cortical senile cataract and cataract 1, multiple types. An important gene associated with Early-Onset Nuclear Cataract is GJA3 (Gap Junction Protein Alpha 3), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. Affiliated tissues include eye, and related phenotype is vision/eye.

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Related Diseases for Early-Onset Nuclear Cataract

Diseases in the Early-Onset Nuclear Cataract family:

Cataract, Age-Related Nuclear

Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract

Diseases related to Early-Onset Nuclear Cataract via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	cortical senile cataract	10.4	CRYAA EPHA2
2	cataract 1, multiple types	10.4	GJA3 GJA8
3	eye accommodation disease	10.3	CRYAA MIP
4	cataract 10, multiple types	10.3	CRYAB CRYBA1
5	nuclear senile cataract	10.3	CRYAA CRYGD
6	presbyopia	10.2	CRYAA MIP
7	cataract 14, multiple types	10.1	GJA3 GJA8
8	senile cataract	9.7	BFSP1 CRYAA
9	early-onset posterior subcapsular cataract	9.7	CRYBB2 EPHA2 UNC45B
10	cerulean cataract	9.6	CRYBB2 CRYGD MIP
11	cataract 24	9.5	CRYAA CRYBA2 CRYBB3
12	mature cataract	9.5	CRYAA CRYBB2 MIP
13	cataract 25	9.3	CRYBA1 CRYBB2 GJA8 MIP
14	posterior polar cataract	9.2	BFSP1 CRYAB CRYBA1 CRYGD GJA3
15	cataract 9, multiple types	8.9	CRYAA CRYBB1 CRYBB2 GJA8
16	cataract 30, multiple types	8.5	CRYBB1 CRYBB2 CRYGC CRYGD GJA3 GJA8
17	cataract 16, multiple types	8.5	CRYAA CRYAB CRYBA1 CRYGC CRYGD EPHA2
18	cataract 44	8.5	CRYAA CRYBB2 EPHA2 FYCO1 GJA8 MIP
19	cataract microcornea syndrome	8.2	CRYAA CRYBB1 CRYBB2 CRYGC CRYGD GJA8
20	lens disease	8.0	CRYAA CRYAB CRYBB1 CRYBB2 GJA3 GJA8
21	cataract	3.5	BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1

Graphical network of the top 20 diseases related to Early-Onset Nuclear Cataract:

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Symptoms & Phenotypes for Early-Onset Nuclear Cataract

MGI Mouse Phenotypes related to Early-Onset Nuclear Cataract:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.4	BFSP1 CRYAB CRYBA1 CRYBA2 CRYBB2 CRYGC

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Drugs & Therapeutics for Early-Onset Nuclear Cataract

Search Clinical Trials , NIH Clinical Center for Early-Onset Nuclear Cataract

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Genetic Tests for Early-Onset Nuclear Cataract

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Anatomical Context for Early-Onset Nuclear Cataract

MalaCards organs/tissues related to Early-Onset Nuclear Cataract:

⁴¹

Eye

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Publications for Early-Onset Nuclear Cataract

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Genes for Early-Onset Nuclear Cataract

Genes related to Early-Onset Nuclear Cataract (18 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	GJA3	Gap Junction Protein Alpha 3	Protein Coding	350	Causative germline mutation ⁵⁹
2	FYCO1	FYVE And Coiled-Coil Domain Containing 1	Protein Coding	350	Causative germline mutation ⁵⁹
3	EPHA2	EPH Receptor A2	Protein Coding	350	Causative germline mutation ⁵⁹
4	GJA8	Gap Junction Protein Alpha 8	Protein Coding	350	Causative germline mutation ⁵⁹
5	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	350	Causative germline mutation ⁵⁹
6	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	350	Causative germline mutation ⁵⁹
7	UNC45B	Unc-45 Myosin Chaperone B	Protein Coding	350	Causative germline mutation ⁵⁹
8	NHS	NHS Actin Remodeling Regulator	Protein Coding	350	Causative germline mutation ⁵⁹
9	CRYGD	Crystallin Gamma D	Protein Coding	350	Causative germline mutation ⁵⁹
10	CRYGC	Crystallin Gamma C	Protein Coding	350	Causative germline mutation ⁵⁹
11	CRYBA1	Crystallin Beta A1	Protein Coding	350	Causative germline mutation ⁵⁹
12	CRYAB	Crystallin Alpha B	Protein Coding	350	Causative germline mutation ⁵⁹
13	CRYAA	Crystallin Alpha A	Protein Coding	350	Causative germline mutation ⁵⁹
14	CRYBA2	Crystallin Beta A2	Protein Coding	350	Causative germline mutation ⁵⁹
15	CRYBB1	Crystallin Beta B1	Protein Coding	350	Causative germline mutation ⁵⁹
16	CRYBB3	Crystallin Beta B3	Protein Coding	350	Causative germline mutation ⁵⁹
17	CRYBB2	Crystallin Beta B2	Protein Coding	350	Causative germline mutation ⁵⁹
18	BFSP1	Beaded Filament Structural Protein 1	Protein Coding	350	Causative germline mutation ⁵⁹

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Variations for Early-Onset Nuclear Cataract

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Expression for Early-Onset Nuclear Cataract

Search GEO for disease gene expression data for Early-Onset Nuclear Cataract.

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Pathways for Early-Onset Nuclear Cataract

Pathways related to Early-Onset Nuclear Cataract according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Protein processing in endoplasmic reticulum ³⁷	11.02	CRYAA CRYAB WFS1

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GO Terms for Early-Onset Nuclear Cataract

Cellular components related to Early-Onset Nuclear Cataract according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell junction	GO:0030054	9.55	EPHA2 GJA3 GJA8 MIP NHS
2	connexin complex	GO:0005922	8.96	GJA3 GJA8
3	gap junction	GO:0005921	8.8	GJA3 GJA8 MIP

Biological processes related to Early-Onset Nuclear Cataract according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	visual perception	GO:0007601	9.7	CRYAA CRYBA1 CRYBB1 CRYBB2 CRYBB3 CRYGC
2	protein homooligomerization	GO:0051260	9.54	CRYAA CRYAB GJA8
3	protein stabilization	GO:0050821	9.5	CRYAA CRYAB WFS1
4	camera-type eye development	GO:0043010	9.43	CRYAB CRYBB2 GJA8
5	lens development in camera-type eye	GO:0002088	9.23	CRYAB CRYBA1 CRYBA2 CRYGD GJA8 MIP
6	negative regulation of intracellular transport	GO:0032387	9.16	CRYAA CRYAB

Molecular functions related to Early-Onset Nuclear Cataract according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of eye lens	GO:0005212	9.36	BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1
2	unfolded protein binding	GO:0051082	9.33	CRYAA CRYAB FYCO1
3	channel activity	GO:0015267	9.26	GJA8 MIP
4	gap junction channel activity	GO:0005243	8.96	GJA3 GJA8

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Sources for Early-Onset Nuclear Cataract

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

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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

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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