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

Sources

Aliases & Classifications for Early-Onset Nuclear Cataract

MalaCards integrated aliases for Early-Onset Nuclear Cataract:

Name: Early-Onset Nuclear Cataract ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital lens malformations

Congenital cataract

Orphanet: ⁵⁸

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³³ Q12.0

UMLS via Orphanet ⁷² C0392557 C1112705

Orphanet ⁵⁸ ORPHA98991

Sources

Summaries for Early-Onset Nuclear Cataract

MalaCards based summary : Early-Onset Nuclear Cataract is related to cataract 32, multiple types and leukocoria. 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 Decreased viability and Decreased viability

Sources

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 39)

#	Related Disease	Score	Top Affiliating Genes
1	cataract 32, multiple types	10.4	CRYBA1 CRYAA
2	leukocoria	10.3	CRYBA1 CRYAA
3	cataract 11, multiple types	10.3	CRYBA1 CRYAA
4	cataract 16, multiple types	10.3	CRYBA1 CRYAB CRYAA
5	cataract 31, multiple types	10.2	CRYBA1 CRYAA BFSP1
6	lens subluxation	10.2	CRYBA2 CRYAA BFSP1
7	disuse amblyopia	10.2	FYCO1 CRYAA
8	cataract 24	10.2	CRYBB3 CRYBA2 CRYAA
9	hallermann-streiff syndrome	10.2	GJA3 CRYAA
10	triosephosphate isomerase deficiency	10.2	CRYBB3 CRYBB1 CRYAA
11	cataract 6, multiple types	10.1	EPHA2 CRYBA1 CRYAA
12	senile cataract	10.1	EPHA2 CRYAA BFSP1
13	sclerocornea	10.0	GJA8 CRYAA
14	aniridia 1	10.0	CRYBB2 CRYBB1 CRYBA1 CRYAA
15	presbyopia	10.0	MIP CRYAA BFSP1
16	eye accommodation disease	10.0	MIP CRYAA BFSP1
17	mature cataract	10.0	MIP CRYBB2 CRYAA
18	congenital nystagmus	10.0	GJA8 CRYAA
19	hereditary lymphedema ic	9.9	GJA8 GJA3
20	cerulean cataract	9.9	MIP CRYGD CRYBB2
21	cataract 1, multiple types	9.9	GJA8 GJA3 CRYAA
22	cataract 14, multiple types	9.9	GJA8 GJA3
23	intraocular pressure quantitative trait locus	9.9	MIP CRYAB CRYAA
24	cataract 9, multiple types	9.9	GJA8 CRYBB2 CRYBB1 CRYAA
25	oculodentodigital dysplasia	9.8	GJA8 GJA3
26	erythrokeratodermia variabilis et progressiva 1	9.7	GJA8 GJA3 CRYBB3 CRYAA
27	wolfram syndrome 1	9.7	WFS1 CRYAA
28	early-onset posterior subcapsular cataract	9.7	UNC45B EPHA2 CRYBB2
29	early-onset sutural cataract	9.7	MIP GJA8 CRYBB2 CRYBA1
30	amblyopia	9.6	GJA3 CRYBB3 CRYBB2 CRYBB1 CRYAA BFSP1
31	early-onset posterior polar cataract	9.5	MIP GJA3 EPHA2 CRYBA1 CRYAB
32	early-onset lamellar cataract	9.4	MIP CRYGD CRYGC CRYBA1 CRYAB CRYAA
33	cataract microcornea syndrome	9.4	GJA8 CRYGD CRYGC CRYBB2 CRYBB1 CRYAA
34	cataract 30, multiple types	9.3	GJA8 GJA3 CRYGD CRYGC CRYBB2 CRYBB1
35	nance-horan syndrome	9.2	NHS CRYBB3 CRYBB2 CRYBB1 CRYBA1 CRYAA
36	posterior polar cataract	9.1	GJA3 EPHA2 CRYGD CRYBB2 CRYBA1 CRYAB
37	lens disease	8.7	MIP GJA8 GJA3 CRYBB2 CRYBB1 CRYBA1
38	cataract 44	8.7	NHS MIP GJA8 FYCO1 EPHA2 CRYBB2
39	cataract	5.8	WFS1 UNC45B NHS MIP GJA8 GJA3

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

Sources

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	Decreased viability	GR00221-A-2	10.02	EPHA2
2	Decreased viability	GR00221-A-3	10.02	EPHA2
3	Decreased viability	GR00221-A-4	10.02	EPHA2
4	Decreased viability	GR00342-S-2	10.02	EPHA2
5	Decreased viability	GR00381-A-1	10.02	GJA3
6	Decreased viability	GR00402-S-2	10.02	BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1
7	no effect	GR00402-S-1	9.58	BFSP1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1

MGI Mouse Phenotypes related to Early-Onset Nuclear Cataract:

⁴⁵

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

Sources

Drugs & Therapeutics for Early-Onset Nuclear Cataract

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

Sources

Genetic Tests for Early-Onset Nuclear Cataract

Sources

Anatomical Context for Early-Onset Nuclear Cataract

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

⁴⁰

Eye, Breast

Sources

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. ⁶	Berry V...Bhattacharya SS	23531866	2013
2	Mutations in FYCO1 cause autosomal-recessive congenital cataracts. ⁶	Chen J...Hejtmancik JF	21636066	2011
3	A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. ⁶	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. ⁶¹	Faridi SH...Lodhi M	28658846	2017

Sources

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 ⁵⁸
2	CRYAA	Crystallin Alpha A	Protein Coding	350	Causative germline mutation ⁵⁸
3	CRYAB	Crystallin Alpha B	Protein Coding	350	Causative germline mutation ⁵⁸
4	CRYBA1	Crystallin Beta A1	Protein Coding	350	Causative germline mutation ⁵⁸
5	CRYBA2	Crystallin Beta A2	Protein Coding	350	Causative germline mutation ⁵⁸
6	CRYBB1	Crystallin Beta B1	Protein Coding	350	Causative germline mutation ⁵⁸
7	CRYBB2	Crystallin Beta B2	Protein Coding	350	Causative germline mutation ⁵⁸
8	CRYBB3	Crystallin Beta B3	Protein Coding	350	Causative germline mutation ⁵⁸
9	CRYGC	Crystallin Gamma C	Protein Coding	350	Causative germline mutation ⁵⁸
10	CRYGD	Crystallin Gamma D	Protein Coding	350	Causative germline mutation ⁵⁸
11	EPHA2	EPH Receptor A2	Protein Coding	350	Causative germline mutation ⁵⁸
12	FYCO1	FYVE And Coiled-Coil Domain Autophagy Adaptor 1	Protein Coding	350	Causative germline mutation ⁵⁸
13	GJA3	Gap Junction Protein Alpha 3	Protein Coding	350	Causative germline mutation ⁵⁸
14	GJA8	Gap Junction Protein Alpha 8	Protein Coding	350	Causative germline mutation ⁵⁸
15	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	350	Causative germline mutation ⁵⁸
16	NHS	NHS Actin Remodeling Regulator	Protein Coding	350	Causative germline mutation ⁵⁸
17	UNC45B	Unc-45 Myosin Chaperone B	Protein Coding	350	Causative germline mutation ⁵⁸
18	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	350	Causative germline mutation ⁵⁸

Sources

Variations for Early-Onset Nuclear Cataract

Sources

Expression for Early-Onset Nuclear Cataract

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

Sources

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 ³⁶	11.02	WFS1 CRYAB CRYAA

Sources

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	visual perception	GO:0007601	9.7	WFS1 MIP GJA3 CRYGD CRYGC CRYBB3
2	protein stabilization	GO:0050821	9.58	WFS1 CRYAB CRYAA
3	camera-type eye development	GO:0043010	9.5	GJA8 CRYBB2 CRYAB
4	lens development in camera-type eye	GO:0002088	9.4	UNC45B NHS MIP GJA8 CRYGD CRYGC
5	negative regulation of cytokine production	GO:0001818	9.37	EPHA2 CRYBA1
6	gap junction-mediated intercellular transport	GO:1990349	9.33	MIP GJA8 GJA3
7	negative regulation of intracellular transport	GO:0032387	9.26	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

Sources

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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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 NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia