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 ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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: ⁵⁹

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁹ ORPHA441452

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Summaries for Early-Onset Lamellar Cataract

MalaCards based summary : Early-Onset Lamellar Cataract is related to cataract 10, multiple types and cataract 24. An important gene associated with Early-Onset Lamellar Cataract is BFSP2 (Beaded Filament Structural Protein 2). 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	cataract 10, multiple types	10.0	CRYBA1 CRYAB
2	cataract 24	9.8	CRYGB CRYAA
3	cerulean cataract	9.8	MIP CRYGD
4	posterior polar cataract	9.6	CRYGD CRYBA1 CRYAB
5	cataract 30, multiple types	9.6	CRYGD CRYGC BFSP2
6	nuclear senile cataract	9.5	CRYGS CRYGD CRYAA
7	cataract microcornea syndrome	9.4	CRYGD CRYGC CRYBA4 CRYAA
8	presbyopia	9.3	MIP CRYGS CRYAA BFSP2
9	cataract 25	9.3	MIP CRYGS CRYBA1 BFSP2
10	eye accommodation disease	9.3	MIP CRYGS CRYAA BFSP2
11	mature cataract	9.2	MIP CRYGS CRYGB CRYAA
12	lens disease	9.2	CRYGS CRYGD CRYAB CRYAA
13	cataract 44	9.0	MIP HSF4 CRYGB CRYAA
14	early-onset nuclear cataract	8.7	MIP CRYGD CRYGC CRYBA1 CRYAB CRYAA
15	cataract	6.3	MIP HSF4 CRYGS CRYGD CRYGC CRYGB
16	cataract 16, multiple types	6.3	MIP HSF4 CRYGS CRYGD CRYGC 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:

⁴⁶

#	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:

⁴¹

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	BFSP2	Beaded Filament Structural Protein 2	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	CRYBA4	Crystallin Beta A4	Protein Coding	350	Causative germline mutation ⁵⁹
6	CRYGB	Crystallin Gamma B	Protein Coding	350	Causative germline mutation ⁵⁹
7	CRYGC	Crystallin Gamma C	Protein Coding	350	Causative germline mutation ⁵⁹
8	CRYGD	Crystallin Gamma D	Protein Coding	350	Causative germline mutation ⁵⁹
9	CRYGS	Crystallin Gamma S	Protein Coding	350	Causative germline mutation ⁵⁹
10	HSF4	Heat Shock Transcription Factor 4	Protein Coding	350	Causative germline mutation ⁵⁹
11	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	350	Causative germline mutation ⁵⁹

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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	MIP CRYGD CRYAA BFSP2
2	protein homooligomerization	GO:0051260	9.58	HSF4 CRYAB CRYAA
3	camera-type eye development	GO:0043010	9.43	HSF4 CRYBA4 CRYAB
4	lens development in camera-type eye	GO:0002088	9.43	MIP CRYGS CRYGD CRYGB CRYBA1 CRYAB
5	lens fiber cell development	GO:0070307	9.32	CRYGB BFSP2
6	visual perception	GO:0007601	9.28	MIP HSF4 CRYGD CRYGC CRYGB CRYBA4
7	negative regulation of intracellular transport	GO:0032387	9.16	CRYAB CRYAA

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	MIP CRYGS CRYGD CRYGC CRYGB CRYBA4

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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

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia