Vitreoretinal Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Vitreoretinal Dystrophy

MalaCards integrated aliases for Vitreoretinal Dystrophy:

Name: Vitreoretinal Dystrophy ¹² ¹⁴ ⁶⁹

Vitreoretinal Dystrophies ¹²

Classifications:

MalaCards categories:
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:14251

ICD10 ³² H35.51

ICD9CM ³⁴ 362.73

SNOMED-CT ⁶⁴ 79556007

UMLS ⁶⁹ C0154863

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Summaries for Vitreoretinal Dystrophy

MalaCards based summary : Vitreoretinal Dystrophy, also known as vitreoretinal dystrophies, is related to eye degenerative disease and wagner syndrome. An important gene associated with Vitreoretinal Dystrophy is FBLN1 (Fibulin 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins. Affiliated tissues include eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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Related Diseases for Vitreoretinal Dystrophy

Diseases related to Vitreoretinal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)

#	Related Disease	Score	Top Affiliating Genes
1	eye degenerative disease	10.1	COL2A1 KCNJ13
2	wagner syndrome	10.1	COL2A1 VCAN
3	marshall syndrome	10.0	COL11A1 COL2A1
4	metaphyseal chondrodysplasia, jansen type	10.0	COL2A1 VCAN
5	otospondylomegaepiphyseal dysplasia	9.9	COL11A1 COL2A1
6	macroglossia	9.9	COL11A1 COL2A1
7	achondrogenesis, type ii	9.9	COL11A1 COL2A1
8	hypochondrogenesis	9.9	COL11A1 COL2A1
9	tendinopathy	9.9	MMP8 VCAN
10	ischemic bone disease	9.8	BGLAP COL2A1
11	stickler syndrome	9.8	COL11A1 COL2A1
12	neuropathy	9.8
13	spondyloepiphyseal dysplasia congenita	9.8	COL11A1 COL2A1
14	osteonecrosis	9.7	BGLAP COL2A1
15	retinal perforation	9.7	COL11A1 COL2A1 KCNJ13
16	vitreoretinal degeneration	9.7	COL11A1 COL2A1 KCNJ13
17	cleft palate, isolated	9.7	COL11A1 COL2A1 TBX22
18	brittle bone disorder	9.7	BGLAP COL2A1
19	kniest dysplasia	9.6	ADAMTS18 COL11A1 COL2A1
20	osteochondrodysplasia	9.5	BGLAP COL2A1
21	retinal detachment	9.5	COL11A1 COL2A1 KCNJ13 RS1
22	vitreous syneresis	9.4	COL11A1 COL2A1 KCNJ13 VCAN

Graphical network of the top 20 diseases related to Vitreoretinal Dystrophy:

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Symptoms & Phenotypes for Vitreoretinal Dystrophy

GenomeRNAi Phenotypes related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

²⁵ (show all 40)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-1	10.2	COL11A1
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-116	10.2	COL11A1
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-119	10.2	BGLAP
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-139	10.2	COL11A1
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-142	10.2	COL11A1
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	10.2	COL11A1
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-15	10.2	COL11A1
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-167	10.2	ADAMTS18
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-179	10.2	COL11A1
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-18	10.2	BGLAP COL11A1 ADAMTS18
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-180	10.2	BGLAP
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-181	10.2	COL11A1 BGLAP
13	Decreased shRNA abundance (Z-score < -2)	GR00366-A-200	10.2	COL11A1 ADAMTS18
14	Decreased shRNA abundance (Z-score < -2)	GR00366-A-206	10.2	ADAMTS18
15	Decreased shRNA abundance (Z-score < -2)	GR00366-A-40	10.2	ADAMTS18
16	Decreased shRNA abundance (Z-score < -2)	GR00366-A-59	10.2	ADAMTS18
17	Decreased shRNA abundance (Z-score < -2)	GR00366-A-86	10.2	ADAMTS18
18	Decreased shRNA abundance (Z-score < -2)	GR00366-A-98	10.2	COL11A1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	10.03	COL11A1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-110	10.03	COL11A1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	10.03	FBLN1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	10.03	COL11A1
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-128	10.03	COL11A1
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-129	10.03	ADAMTS18
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	10.03	FBLN1
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	10.03	FBLN1
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-170	10.03	COL11A1
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	10.03	ADAMTS18
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-185	10.03	COL11A1
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-186	10.03	ADAMTS18
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-207	10.03	COL11A1 ADAMTS18
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-32	10.03	ADAMTS18
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	10.03	FBLN1
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	10.03	FBLN1 ADAMTS18 COL11A1
35	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	10.03	COL11A1
36	Increased shRNA abundance (Z-score > 2)	GR00366-A-69	10.03	COL11A1
37	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	10.03	COL11A1
38	Increased shRNA abundance (Z-score > 2)	GR00366-A-79	10.03	COL11A1
39	Increased shRNA abundance (Z-score > 2)	GR00366-A-9	10.03	COL11A1
40	Resistant to vaccinia virus (VACV-A4L) infection	GR00351-A-1	9.02	BGLAP COL11A1 COL2A1 MMP8 RS1

MGI Mouse Phenotypes related to Vitreoretinal Dystrophy:

⁴³

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	9.55	COL11A1 COL2A1 FBLN1 KCNJ13 TBX22
2	respiratory system	MP:0005388	9.35	COL11A1 COL2A1 FBLN1 KCNJ13 TBX22
3	skeleton	MP:0005390	9.1	VCAN COL11A1 COL2A1 FBLN1 KCNJ13 TBX22

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Drugs & Therapeutics for Vitreoretinal Dystrophy

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Molecular Genetics of Retinal Degenerations	Completed	NCT00231010

Search NIH Clinical Center for Vitreoretinal Dystrophy

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Genetic Tests for Vitreoretinal Dystrophy

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Anatomical Context for Vitreoretinal Dystrophy

MalaCards organs/tissues related to Vitreoretinal Dystrophy:

³⁸

Eye

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Publications for Vitreoretinal Dystrophy

Articles related to Vitreoretinal Dystrophy:

#	Title	Authors	Year
1	Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. ( 12912698 )	Weigell-Weber M....Hergersberg M.	2003
2	Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy. ( 12912687 )	Sarra G.M....Hergersberg M.	2003
3	Hereditary vitreoretinal dystrophy associated with peripheral neuropathy. ( 8082840 )	Ettl A....GAPttinger W.	1994
4	Proton relaxation times of the vitreous body in hereditary vitreoretinal dystrophy. ( 7970545 )	Ettl A....Felber S.	1994

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Genes for Vitreoretinal Dystrophy

Genes related to Vitreoretinal Dystrophy (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication
1	FBLN1	Fibulin 1	Protein Coding	23.3	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
2	RS1	Retinoschisin 1	Protein Coding	17.19	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
3	KCNJ13	Potassium Voltage-Gated Channel Subfamily J Member 13	Protein Coding	16.44	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
4	TBX22	T-Box 22	Protein Coding	15.93	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
5	VCAN	Versican	Protein Coding	15.93	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
6	ADAMTS18	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18	Protein Coding	15.93	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
7	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	15.42	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
8	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	14.78	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
9	MMP8	Matrix Metallopeptidase 8	Protein Coding	14.14	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
10	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	13.63	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Vitreoretinal Dystrophy

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Expression for Vitreoretinal Dystrophy

Search GEO for disease gene expression data for Vitreoretinal Dystrophy.

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Pathways for Vitreoretinal Dystrophy

Pathways related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Degradation of the extracellular matrix ⁶² Show member pathways Collagen degradation ⁶² Extracellular matrix organization ⁶²	11.75	ADAMTS18 COL11A1 COL2A1 FBLN1 MMP8 VCAN
2	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²¹ Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²¹	11.56	COL11A1 COL2A1 MMP8 VCAN
3	Cell adhesion_ECM remodeling ²¹	11.11	COL2A1 VCAN
4	Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶¹	11.11	BGLAP COL2A1 VCAN
5	Cell adhesion_Cell-matrix glycoconjugates ²¹	10.85	FBLN1 VCAN

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GO Terms for Vitreoretinal Dystrophy

Cellular components related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.8	BGLAP COL11A1 COL2A1 FBLN1 MMP8 RS1
2	extracellular region	GO:0005576	9.76	ADAMTS18 BGLAP COL11A1 COL2A1 FBLN1 MMP8
3	endoplasmic reticulum lumen	GO:0005788	9.62	BGLAP COL11A1 COL2A1 VCAN
4	extracellular matrix	GO:0031012	9.35	COL11A1 COL2A1 FBLN1 MMP8 VCAN
5	proteinaceous extracellular matrix	GO:0005578	9.1	ADAMTS18 COL11A1 COL2A1 FBLN1 MMP8 VCAN

Biological processes related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	visual perception	GO:0007601	9.61	COL11A1 COL2A1 RS1
2	inner ear morphogenesis	GO:0042472	9.52	COL11A1 COL2A1
3	bone development	GO:0060348	9.51	BGLAP COL2A1
4	skeletal system development	GO:0001501	9.5	BGLAP COL2A1 VCAN
5	heart morphogenesis	GO:0003007	9.49	COL11A1 COL2A1
6	skeletal system morphogenesis	GO:0048705	9.48	COL11A1 COL2A1
7	collagen fibril organization	GO:0030199	9.46	COL11A1 COL2A1
8	ossification	GO:0001503	9.43	BGLAP COL11A1 COL2A1
9	endodermal cell differentiation	GO:0035987	9.4	COL11A1 MMP8
10	cartilage condensation	GO:0001502	9.37	COL11A1 COL2A1
11	proteoglycan metabolic process	GO:0006029	9.16	COL11A1 COL2A1
12	collagen catabolic process	GO:0030574	9.13	COL11A1 COL2A1 MMP8
13	extracellular matrix organization	GO:0030198	8.92	COL11A1 COL2A1 FBLN1 VCAN

Molecular functions related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:0005201	8.92	COL11A1 COL2A1 FBLN1 VCAN

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Sources for Vitreoretinal Dystrophy

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