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

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Aliases & Classifications for Early-Onset Lamellar Cataract

MalaCards integrated aliases for Early-Onset Lamellar Cataract:

Name: Early-Onset Lamellar Cataract ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

early-onset lamellar cataract
Inheritance: Autosomal dominant;

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁶⁰ ORPHA441452

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Summaries for Early-Onset Lamellar Cataract

MalaCards based summary : Early-Onset Lamellar Cataract is related to cerulean cataract and cataract 30, multiple types. An important gene associated with Early-Onset Lamellar Cataract is CRYGB (Crystallin Gamma B). Affiliated tissues include eye, and related phenotype is vision/eye.

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Related Diseases for Early-Onset Lamellar Cataract

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

(show all 16)

#	Related Disease	Score	Top Affiliating Genes
1	cerulean cataract	10.0	CRYGD MIP
2	cataract 30, multiple types	9.7	BFSP2 CRYGC CRYGD
3	cataract 10, multiple types	9.7	CRYAB CRYBA1
4	nuclear senile cataract	9.6	CRYAA CRYGD CRYGS
5	cataract 25	9.6	BFSP2 CRYBA1 CRYGS MIP
6	cataract 24	9.6	CRYAA CRYGB
7	mature cataract	9.6	CRYAA CRYGB CRYGS MIP
8	posterior polar cataract	9.6	CRYAB CRYBA1 CRYGD
9	cataract 44	9.5	CRYAA CRYGB HSF4 MIP
10	presbyopia	9.5	BFSP2 CRYAA CRYGS MIP
11	eye accommodation disease	9.4	BFSP2 CRYAA CRYGS MIP
12	cataract microcornea syndrome	9.4	CRYAA CRYBA4 CRYGC CRYGD
13	lens disease	9.3	CRYAA CRYAB CRYGD CRYGS
14	early-onset nuclear cataract	8.8	CRYAA CRYAB CRYBA1 CRYGC CRYGD MIP
15	cataract 16, multiple types	7.7	BFSP2 CRYAA CRYAB CRYBA1 CRYBA4 CRYGB
16	cataract	7.7	BFSP2 CRYAA CRYAB CRYBA1 CRYBA4 CRYGB

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

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Symptoms & Phenotypes for Early-Onset Lamellar Cataract

MGI Mouse Phenotypes related to Early-Onset Lamellar Cataract:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.28	BFSP2 CRYAB CRYBA1 CRYGB CRYGC CRYGD

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Drugs & Therapeutics for Early-Onset Lamellar Cataract

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

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Genetic Tests for Early-Onset Lamellar Cataract

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Anatomical Context for Early-Onset Lamellar Cataract

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

⁴²

Eye

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Publications for Early-Onset Lamellar Cataract

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Genes for Early-Onset Lamellar Cataract

Genes related to Early-Onset Lamellar Cataract (11 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CRYGB	Crystallin Gamma B	Protein Coding	350	Causative germline mutation ⁶⁰
2	CRYGS	Crystallin Gamma S	Protein Coding	350	Causative germline mutation ⁶⁰
3	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	350	Causative germline mutation ⁶⁰
4	HSF4	Heat Shock Transcription Factor 4	Protein Coding	350	Causative germline mutation ⁶⁰
5	CRYGD	Crystallin Gamma D	Protein Coding	350	Causative germline mutation ⁶⁰
6	CRYGC	Crystallin Gamma C	Protein Coding	350	Causative germline mutation ⁶⁰
7	CRYBA4	Crystallin Beta A4	Protein Coding	350	Causative germline mutation ⁶⁰
8	CRYBA1	Crystallin Beta A1	Protein Coding	350	Causative germline mutation ⁶⁰
9	CRYAB	Crystallin Alpha B	Protein Coding	350	Causative germline mutation ⁶⁰
10	CRYAA	Crystallin Alpha A	Protein Coding	350	Causative germline mutation ⁶⁰
11	BFSP2	Beaded Filament Structural Protein 2	Protein Coding	350	Causative germline mutation ⁶⁰

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Variations for Early-Onset Lamellar Cataract

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Expression for Early-Onset Lamellar Cataract

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

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Pathways for Early-Onset Lamellar Cataract

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GO Terms for Early-Onset Lamellar Cataract

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

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.67	BFSP2 CRYAA CRYGD MIP
2	protein homooligomerization	GO:0051260	9.58	CRYAA CRYAB HSF4
3	camera-type eye development	GO:0043010	9.43	CRYAB CRYBA4 HSF4
4	lens development in camera-type eye	GO:0002088	9.35	CRYAB CRYBA1 CRYGB CRYGD CRYGS
5	lens fiber cell development	GO:0070307	9.32	BFSP2 CRYGB
6	visual perception	GO:0007601	9.28	BFSP2 CRYAA CRYBA1 CRYBA4 CRYGB CRYGC
7	negative regulation of intracellular transport	GO:0032387	9.16	CRYAA CRYAB

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

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of eye lens	GO:0005212	9.32	BFSP2 CRYAA CRYAB CRYBA1 CRYBA4 CRYGB

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Sources for Early-Onset Lamellar 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

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia