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 ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ⁵⁸

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁸ ORPHA441452

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Summaries for Early-Onset Lamellar Cataract

MalaCards based summary : Early-Onset Lamellar Cataract is related to cataract 32, multiple types and scleral staphyloma. 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 top 50) (show all 52)

#	Related Disease	Score	Top Affiliating Genes
1	cataract 32, multiple types	10.2	CRYBA1 CRYAA
2	scleral staphyloma	10.2	CRYBA1 CRYAA
3	leukocoria	10.2	CRYBA1 CRYAA
4	cataract 24	10.2	CRYGB CRYAA
5	corneal dystrophy, avellino type	10.2	CRYAA BFSP2
6	myopathy, myofibrillar, 2	10.2	CRYAB CRYAA
7	cataract 11, multiple types	10.2	CRYBA1 CRYAA
8	cataract 6, multiple types	10.2	CRYBA1 CRYAA
9	congenital aphakia	10.2	CRYGB CRYAA
10	cataract 31, multiple types	10.1	CRYBA1 CRYAA
11	cataract 48	10.1	CRYGB CRYAA
12	microphthalmia, syndromic 2	10.1	CRYBA4 CRYAA
13	senile cataract	10.1	CRYGS CRYAA
14	autoimmune optic neuritis	10.1	MIP CRYBA1
15	lens subluxation	10.1	CRYBA4 CRYAA
16	syndromic microphthalmia	10.1	CRYBA4 CRYAA
17	disuse amblyopia	10.0	CRYGS CRYAA
18	alexander disease	10.0	CRYAB CRYAA
19	anterior segment dysgenesis	10.0	CRYBA4 CRYAA BFSP2
20	night blindness, congenital stationary, type 2a	10.0	CRYGB CRYBA1 CRYAA
21	cerulean cataract	10.0	MIP CRYGD
22	abruzzo-erickson syndrome	10.0	CRYGB CRYBA4 CRYAA
23	porencephaly	10.0	CRYGB CRYBA4 CRYAA
24	erythrokeratodermia variabilis et progressiva 1	10.0	CRYBA1 CRYAA
25	diabetic cataract	10.0	CRYGS CRYAA
26	early-onset posterior polar cataract	9.9	MIP CRYBA1 CRYAB
27	intraocular pressure quantitative trait locus	9.9	MIP CRYAB CRYAA
28	galactosemia ii	9.9	CRYGS CRYAA BFSP2
29	immature cataract	9.9	MIP CRYGB CRYAA
30	cataract 30, multiple types	9.9	CRYGD CRYGC BFSP2
31	persistent hyperplastic primary vitreous	9.9	CRYGS CRYBA1
32	mal de meleda	9.9	HSF4 CRYAA
33	retinal perforation	9.9	CRYGS CRYBA4 CRYAA
34	morgagni cataract	9.9	CRYGS CRYGB CRYAA
35	nance-horan syndrome	9.8	CRYGD CRYBA4 CRYAA BFSP2
36	cataract microcornea syndrome	9.7	CRYGD CRYGC CRYBA4 CRYAA
37	myopia	9.7	CRYBA4 CRYAA BFSP2
38	amblyopia	9.6	CRYGS CRYGD CRYAA BFSP2
39	early-onset sutural cataract	9.6	MIP CRYGS CRYBA1 BFSP2
40	cataract 16, multiple types	9.6	HSF4 CRYBA1 CRYAB CRYAA
41	axenfeld-rieger syndrome, type 3	9.6	CRYGS CRYBA1 CRYAB CRYAA BFSP2
42	mature cataract	9.5	MIP CRYGS CRYGD CRYAA
43	nuclear senile cataract	9.5	CRYGS CRYGD CRYGC CRYGB
44	cataract 44	9.5	MIP HSF4 CRYGB CRYAA
45	early-onset nuclear cataract	9.3	MIP CRYGD CRYGC CRYBA1 CRYAB CRYAA
46	posterior polar cataract	9.2	HSF4 CRYGD CRYBA1 CRYAB CRYAA BFSP2
47	presbyopia	9.2	MIP CRYGS CRYGD CRYGB CRYAA BFSP2
48	eye accommodation disease	9.2	MIP CRYGS CRYGD CRYGB CRYAA BFSP2
49	aniridia 1	8.8	HSF4 CRYGS CRYGD CRYBA4 CRYBA1 CRYAA
50	early-onset non-syndromic cataract	8.5	MIP HSF4 CRYGS CRYGC CRYGB CRYBA4

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:

⁴⁰

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 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	CRYBA4	Crystallin Beta A4	Protein Coding	350	Causative germline mutation ⁵⁸
6	CRYGB	Crystallin Gamma B	Protein Coding	350	Causative germline mutation ⁵⁸
7	CRYGC	Crystallin Gamma C	Protein Coding	350	Causative germline mutation ⁵⁸
8	CRYGD	Crystallin Gamma D	Protein Coding	350	Causative germline mutation ⁵⁸
9	CRYGS	Crystallin Gamma S	Protein Coding	350	Causative germline mutation ⁵⁸
10	HSF4	Heat Shock Transcription Factor 4	Protein Coding	350	Causative germline mutation ⁵⁸
11	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	350	Causative germline mutation ⁵⁸

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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	lens development in camera-type eye	GO:0002088	9.56	MIP CRYGS CRYGD CRYGC CRYGB CRYBA4
3	camera-type eye development	GO:0043010	9.43	HSF4 CRYBA4 CRYAB
4	eye development	GO:0001654	9.4	HSF4 CRYGB
5	lens fiber cell development	GO:0070307	9.32	CRYGB BFSP2
6	visual perception	GO:0007601	9.32	MIP HSF4 CRYGS CRYGD CRYGC CRYGB
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
2	structural molecule activity	GO:0005198	9.13	CRYAB CRYAA BFSP2

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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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

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