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:

ICD10 via Orphanet ³⁴ Q12.0

UMLS via Orphanet ⁷³ C0392557 C1112705

Orphanet ⁵⁹ ORPHA98991

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Summaries for Early-Onset Nuclear Cataract

MalaCards based summary : Early-Onset Nuclear Cataract is related to senile cataract and cataract 10, multiple types. An important gene associated with Early-Onset Nuclear Cataract is BFSP1 (Beaded Filament Structural Protein 1), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. Affiliated tissues include eye and breast, 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	senile cataract	10.5	CRYAA BFSP1
2	cataract 10, multiple types	10.4	CRYBA1 CRYAB
3	cortical senile cataract	10.4	EPHA2 CRYAA
4	nuclear senile cataract	10.3	CRYGD CRYAA
5	cataract 24	10.3	CRYBB3 CRYBA2 CRYAA
6	presbyopia	10.1	MIP CRYAA
7	eye accommodation disease	10.0	MIP CRYAA
8	mature cataract	10.0	MIP CRYBB2 CRYAA
9	cerulean cataract	9.9	MIP CRYGD CRYBB2
10	cataract 9, multiple types	9.9	GJA8 CRYBB2 CRYBB1 CRYAA
11	cataract 1, multiple types	9.8	GJA8 GJA3
12	posterior polar cataract	9.7	GJA3 CRYGD CRYBA1 CRYAB BFSP1
13	cataract 14, multiple types	9.6	GJA8 GJA3
14	early-onset posterior subcapsular cataract	9.6	UNC45B EPHA2 CRYBB2
15	cataract 25	9.6	MIP GJA8 CRYBB2 CRYBA1
16	cataract microcornea syndrome	9.3	GJA8 CRYGD CRYGC CRYBB2 CRYBB1 CRYAA
17	lens disease	9.3	GJA8 GJA3 CRYGD CRYBB2 CRYAB CRYAA
18	cataract 30, multiple types	9.2	GJA8 GJA3 CRYGD CRYGC CRYBB2 CRYBB1
19	cataract 16, multiple types	8.6	MIP GJA3 EPHA2 CRYGD CRYGC CRYBA1
20	cataract 44	8.4	NHS MIP GJA8 FYCO1 EPHA2 CRYBB2
21	cataract	5.1	WFS1 UNC45B NHS MIP GJA8 GJA3

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:

²⁶

#	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:

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, Breast

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Publications for Early-Onset Nuclear Cataract

Articles related to Early-Onset Nuclear Cataract:

#	Title	Authors	PMID	Year
1	Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. ⁷¹	Berry V...Bhattacharya SS	23531866	2013
2	Mutations in FYCO1 cause autosomal-recessive congenital cataracts. ⁷¹	Chen J...Hejtmancik JF	21636066	2011
3	A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. ⁷¹	Pras E...Frydman M	11519376	2001
4	Concomitant Presence of Carcinoma of Breast in a Patient with Early-Onset Cataract: First Case Report of a Potential Association. ³⁸	Faridi SH...Lodhi M	28658846	2017

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

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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	NHS MIP GJA8 GJA3 EPHA2
2	connexin complex	GO:0005922	8.96	GJA8 GJA3
3	gap junction	GO:0005921	8.8	MIP GJA8 GJA3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein homooligomerization	GO:0051260	9.58	GJA8 CRYAB CRYAA
2	lens development in camera-type eye	GO:0002088	9.56	UNC45B NHS MIP GJA8 CRYGD CRYBA2
3	protein stabilization	GO:0050821	9.54	WFS1 CRYAB CRYAA
4	camera-type eye development	GO:0043010	9.43	GJA8 CRYBB2 CRYAB
5	negative regulation of cytokine production	GO:0001818	9.32	EPHA2 CRYBA1
6	visual perception	GO:0007601	9.32	WFS1 MIP GJA3 CRYGD CRYGC CRYBB3
7	negative regulation of intracellular transport	GO:0032387	9.16	CRYAB CRYAA

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	MIP CRYGD CRYGC CRYBB3 CRYBB2 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

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³ CDC

⁴ Cell Signaling Technology

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²⁰ GeneAnalytics

²¹ GeneCards

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

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³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

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³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

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⁴¹ MalaCards

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⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia