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

MalaCards based summary: Early-Onset Nuclear Cataract is related to cataract 32, multiple types and neuronopathy, distal hereditary motor, type iic. An important gene associated with Early-Onset Nuclear Cataract is BFSP1 (Beaded Filament Structural Protein 1), and among its related pathways/superpathways is 1q21.1 copy number variation syndrome. Affiliated tissues include eye and breast, 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 top 50) (show all 55)

#	Related Disease	Score	Top Affiliating Genes
1	cataract 32, multiple types	10.3	CRYBA1 CRYAA
2	neuronopathy, distal hereditary motor, type iic	10.3	CRYAB CRYAA
3	cataract 31, multiple types	10.3	CRYBA1 CRYAA
4	cataract 48	10.3	CRYBA2 CRYAA
5	immature cataract	10.3	CRYBB2 CRYAA
6	triosephosphate isomerase deficiency	10.2	CRYBB1 CRYAA
7	cataract 11, multiple types	10.2	CRYBA1 CRYAA
8	leukocoria	10.2	CRYGD CRYAA
9	myopathy, myofibrillar, 2	10.2	CRYAB CRYAA
10	cataract 16, multiple types	10.2	CRYBA1 CRYAB CRYAA
11	cataract 18	10.2	FYCO1 CRYAA
12	axenfeld-rieger syndrome, type 3	10.2	CRYBA1 CRYAA
13	galactosemia ii	10.2	CRYBB3 CRYAA BFSP1
14	persistent hyperplastic primary vitreous	10.2	CRYBB1 CRYBA1 CRYAA
15	hallermann-streiff syndrome	10.2	GJA3 CRYAA
16	cataract 24	10.2	CRYBB3 CRYBA2 CRYAA
17	abruzzo-erickson syndrome	10.1	CRYBB3 CRYBB1 CRYAA
18	cataract 28	10.1	NHS CRYAA
19	ophthalmia neonatorum	10.1	NHS CRYAA
20	congenital aphakia	10.0	GJA8 CRYBB2 CRYAA
21	cataract 1, multiple types	10.0	GJA8 GJA3
22	diabetic cataract	10.0	MIP CRYBB1 CRYAA
23	cataract 14, multiple types	10.0	GJA8 GJA3
24	coloboma of optic nerve	10.0	GJA8 CRYAA
25	wolfram syndrome 1	10.0	WFS1 CRYAA
26	intraocular pressure quantitative trait locus	10.0	MIP CRYAB CRYAA
27	erythrokeratodermia variabilis et progressiva 1	9.9	GJA8 GJA3 CRYBA1
28	oculodentodigital dysplasia	9.9	GJA8 GJA3
29	iris disease	9.9	CRYBB1 CRYAA
30	sclerocornea	9.9	GJA8 CRYAA
31	cataract 9, multiple types	9.9	GJA8 CRYBB2 CRYBB1 CRYAA
32	coloboma of macula	9.9	GJA8 CRYBB2 CRYBB1 CRYAA
33	myofibrillar myopathy	9.8	UNC45B CRYAB CRYAA
34	fundus dystrophy	9.8	CRYBB1 CRYBA2 CRYBA1 CRYAB CRYAA
35	deprivation amblyopia	9.8	FYCO1 CRYGD CRYBB3 CRYAA BFSP1
36	early-onset posterior subcapsular cataract	9.8	UNC45B EPHA2 CRYBB2
37	cataract 7	9.8	MIP EPHA2 CRYGD CRYBB2
38	early-onset sutural cataract	9.8	MIP GJA8 CRYBB2 CRYBA1
39	early-onset posterior polar cataract	9.7	MIP GJA3 EPHA2 CRYBA1 CRYAB
40	early-onset lamellar cataract	9.6	MIP CRYGD CRYGC CRYBA1 CRYAB CRYAA
41	cataract microcornea syndrome	9.6	GJA8 CRYGD CRYGC CRYBB2 CRYBB1 CRYAA
42	eye accommodation disease	9.6	MIP GJA8 GJA3 CRYAA BFSP1
43	mature cataract	9.5	MIP GJA8 CRYGD CRYBB2 CRYAA BFSP1
44	cataract 30, multiple types	9.5	GJA8 GJA3 CRYGD CRYGC CRYBB2 CRYBB1
45	eye disease	9.5	GJA8 GJA3 FYCO1 CRYBB2 CRYBB1 CRYAA
46	posterior polar cataract	9.3	GJA8 GJA3 EPHA2 CRYBB2 CRYBB1 CRYBA1
47	senile cataract	9.3	GJA8 GJA3 CRYGD CRYBB3 CRYBB2 CRYBB1
48	anterior segment dysgenesis	9.3	GJA8 GJA3 CRYGD CRYBB3 CRYBB2 CRYBB1
49	presbyopia	9.2	MIP GJA8 GJA3 CRYGD CRYBB2 CRYAB
50	amblyopia	9.2	GJA8 GJA3 CRYGD CRYBB3 CRYBB2 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

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.11	BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1
2	no effect	GR00402-S-2	10.11	BFSP1 CRYAB CRYBA1 CRYBB2 CRYBB3 CRYGD

MGI Mouse Phenotypes related to Early-Onset Nuclear Cataract:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.47	BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB2

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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

Organs/tissues related to Early-Onset Nuclear Cataract:

MalaCards : Eye, Breast

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Publications for Early-Onset Nuclear Cataract

Articles related to Early-Onset Nuclear Cataract:

#	Title	Authors	PMID	Year
1	Concomitant Presence of Carcinoma of Breast in a Patient with Early-Onset Cataract: First Case Report of a Potential Association. ⁶²	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	PubMed IDs
1	BFSP1	Beaded Filament Structural Protein 1	Protein Coding	350	Causative germline mutation ⁵⁸	24379646
2	CRYAA	Crystallin Alpha A	Protein Coding	350	Causative germline mutation ⁵⁸	19390652 24074001 24384146
3	CRYAB	Crystallin Alpha B	Protein Coding	350	Causative germline mutation ⁵⁸	19597569 24384146 26622071
4	CRYBA1	Crystallin Beta A1	Protein Coding	350	Causative germline mutation ⁵⁸	21686330 24384146
5	CRYBA2	Crystallin Beta A2	Protein Coding	350	Causative germline mutation ⁵⁸	23508780
6	CRYBB1	Crystallin Beta B1	Protein Coding	350	Causative germline mutation ⁵⁸	18432316 17460281 24384146
7	CRYBB2	Crystallin Beta B2	Protein Coding	350	Causative germline mutation ⁵⁸	19649175 24384146
8	CRYBB3	Crystallin Beta B3	Protein Coding	350	Causative germline mutation ⁵⁸	23508780 15914629
9	CRYGC	Crystallin Gamma C	Protein Coding	350	Causative germline mutation ⁵⁸	18618005 24384146
10	CRYGD	Crystallin Gamma D	Protein Coding	350	Causative germline mutation ⁵⁸	21031598 26147294 24384146
11	EPHA2	EPH Receptor A2	Protein Coding	350	Causative germline mutation ⁵⁸	24014202
12	FYCO1	FYVE And Coiled-Coil Domain Autophagy Adaptor 1	Protein Coding	350	Causative germline mutation ⁵⁸	21636066 24384146
13	GJA3	Gap Junction Protein Alpha 3	Protein Coding	350	Causative germline mutation ⁵⁸	16234473 20431721 21552498
14	GJA8	Gap Junction Protein Alpha 8	Protein Coding	350	Causative germline mutation ⁵⁸	14627691 24384146
15	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	350	Causative germline mutation ⁵⁸	21245956 21647270 24384146
16	NHS	NHS Actin Remodeling Regulator	Protein Coding	350	Causative germline mutation ⁵⁸	19414485 24968223 24384146
17	UNC45B	Unc-45 Myosin Chaperone B	Protein Coding	350	Causative germline mutation ⁵⁸	24549050
18	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	350	Causative germline mutation ⁵⁸	23531866

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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	1q21.1 copy number variation syndrome ⁷⁴	10.09	GJA8 GJA3

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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	anchoring junction	GO:0070161	9.35	NHS MIP GJA8 GJA3 EPHA2
2	gap junction	GO:0005921	8.92	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	visual perception	GO:0007601	10	CRYAA CRYBA1 CRYBA2 CRYBB1 CRYBB2 CRYBB3
2	lens development in camera-type eye	GO:0002088	9.74	UNC45B NHS MIP GJA8 CRYGD CRYGC
3	gap junction-mediated intercellular transport	GO:1990349	9.63	MIP GJA8 GJA3
4	negative regulation of intracellular transport	GO:0032387	9.56	CRYAB CRYAA
5	camera-type eye development	GO:0043010	9.5	GJA8 CRYBB2 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	9.66	MIP CRYGD CRYGC CRYBB3 CRYBB2 CRYBB1

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Sources for Early-Onset Nuclear Cataract

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ERL043 MIFTS: 20	Early-Onset Nuclear Cataract Categories: Eye diseases, Fetal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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