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 ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

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: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital lens malformations

Congenital cataract

Orphanet: ⁶⁰

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³⁵ Q12.0

UMLS via Orphanet ⁷⁵ C0392557 C1112705

Orphanet ⁶⁰ ORPHA98991

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Summaries for Early-Onset Nuclear Cataract

MalaCards based summary : Early-Onset Nuclear Cataract is related to nuclear senile cataract and cataract 10, multiple types. An important gene associated with Early-Onset Nuclear Cataract is CRYBA2 (Crystallin Beta A2), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. Affiliated tissues include eye, and related phenotypes are no effect and 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	nuclear senile cataract	10.3	CRYAA CRYGD
2	cataract 10, multiple types	10.3	CRYAB CRYBA1
3	cataract 24	10.2	CRYAA CRYBA2 CRYBB3
4	presbyopia	10.1	CRYAA MIP
5	senile cataract	10.1	BFSP1 CRYAA
6	eye accommodation disease	10.1	CRYAA MIP
7	mature cataract	10.1	CRYAA CRYBB2 MIP
8	cerulean cataract	10.1	CRYBB2 CRYGD MIP
9	cortical senile cataract	10.1	CRYAA EPHA2
10	cataract 1, multiple types	10.0	GJA3 GJA8
11	cataract 25	9.9	CRYBA1 CRYBB2 GJA8 MIP
12	early-onset posterior subcapsular cataract	9.9	CRYBB2 EPHA2 UNC45B
13	cataract 14, multiple types	9.9	GJA3 GJA8
14	cataract 9, multiple types	9.9	CRYAA CRYBB1 CRYBB2 GJA8
15	posterior polar cataract	9.8	BFSP1 CRYAB CRYBA1 CRYGD GJA3
16	lens disease	9.7	CRYAA CRYAB CRYBB2 CRYGD GJA3 GJA8
17	cataract microcornea syndrome	9.6	CRYAA CRYBB1 CRYBB2 CRYGC CRYGD GJA8
18	cataract 30, multiple types	9.6	CRYBB1 CRYBB2 CRYGC CRYGD GJA3 GJA8
19	cataract 16, multiple types	9.2	CRYAA CRYAB CRYBA1 CRYGC CRYGD EPHA2
20	cataract 44	8.9	CRYAA CRYBB2 EPHA2 FYCO1 GJA8 MIP
21	cataract	6.9	BFSP1 CRYAA CRYAB CRYBA1 CRYBB1 CRYBB2

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

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Symptoms & Phenotypes for Early-Onset Nuclear Cataract

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

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	9.88	BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1

MGI Mouse Phenotypes related to Early-Onset Nuclear Cataract:

⁴⁷

#	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:

⁴²

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	CRYBA2	Crystallin Beta A2	Protein Coding	350	Causative germline mutation ⁶⁰
2	CRYGD	Crystallin Gamma D	Protein Coding	350	Causative germline mutation ⁶⁰
3	CRYAA	Crystallin Alpha A	Protein Coding	350	Causative germline mutation ⁶⁰
4	CRYAB	Crystallin Alpha B	Protein Coding	350	Causative germline mutation ⁶⁰
5	CRYBA1	Crystallin Beta A1	Protein Coding	350	Causative germline mutation ⁶⁰
6	CRYBB2	Crystallin Beta B2	Protein Coding	350	Causative germline mutation ⁶⁰
7	CRYBB3	Crystallin Beta B3	Protein Coding	350	Causative germline mutation ⁶⁰
8	CRYGC	Crystallin Gamma C	Protein Coding	350	Causative germline mutation ⁶⁰
9	GJA3	Gap Junction Protein Alpha 3	Protein Coding	350	Causative germline mutation ⁶⁰
10	UNC45B	Unc-45 Myosin Chaperone B	Protein Coding	350	Causative germline mutation ⁶⁰
11	GJA8	Gap Junction Protein Alpha 8	Protein Coding	350	Causative germline mutation ⁶⁰
12	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	350	Causative germline mutation ⁶⁰
13	CRYBB1	Crystallin Beta B1	Protein Coding	350	Causative germline mutation ⁶⁰
14	NHS	NHS Actin Remodeling Regulator	Protein Coding	350	Causative germline mutation ⁶⁰
15	BFSP1	Beaded Filament Structural Protein 1	Protein Coding	350	Causative germline mutation ⁶⁰
16	EPHA2	EPH Receptor A2	Protein Coding	350	Causative germline mutation ⁶⁰
17	FYCO1	FYVE And Coiled-Coil Domain Containing 1	Protein Coding	350	Causative germline mutation ⁶⁰
18	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	350	Causative germline mutation ⁶⁰

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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 ³⁸	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	9.65	CRYAA CRYBA1 CRYBB1 CRYBB2 CRYBB3 CRYGC
2	protein homooligomerization	GO:0051260	9.58	CRYAA CRYAB GJA8
3	protein stabilization	GO:0050821	9.54	CRYAA CRYAB WFS1
4	camera-type eye development	GO:0043010	9.43	CRYAB CRYBB2 GJA8
5	negative regulation of cytokine production	GO:0001818	9.32	CRYBA1 EPHA2
6	lens development in camera-type eye	GO:0002088	9.17	CRYAB CRYBA1 CRYBA2 CRYGD GJA8 NHS
7	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	channel activity	GO:0015267	8.85	MIP
3	gap junction channel activity	GO:0005243	8.65	GJA8

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Sources for Early-Onset Nuclear Cataract

¹ BioSystems

² BitterDB

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⁹ Cosmic

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²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

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⁴⁵ MeSH

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⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

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⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

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⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

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⁷⁴ UMLS

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia