Vitreoretinal Degeneration malady

MalaCards: Vitreoretinal Degeneration is related to snowflake vitreoretinal degeneration and wagner syndrome. An important gene associated with Vitreoretinal Degeneration is KCNJ13 (potassium inwardly-rectifying channel, subfamily J, member 13), and among its related pathways are Metalloproteases in connective tissue degradation and Cell adhesion_ECM remodeling.

vitreoretinal degeneration 30 43

Diseases related to vitreoretinal degeneration by text searches and GeneDecks gene sharing:

(show all 32)

id	Related Disease	Score	Top Affiliating Genes
1	snowflake vitreoretinal degeneration	32.6	KCNJ13, COL4A3, COL2A1, COL11A1
2	wagner syndrome	29.5	COL2A1, COL11A1
3	stickler syndrome	28.6	COL11A1, COL2A1, COL9A2
4	stickler syndrome type 1	13.0	COL11A1, COL2A1
5	vitreous syneresis	12.9	COL2A1, COL11A1
6	vitreoretinal dystrophy	12.9	COL11A1, COL2A1
7	marshall syndrome	12.9	COL11A1, COL2A1
8	macroglossia	12.9	COL2A1, COL11A1
9	chorioretinal atrophy	12.9	COL2A1, COL11A1
10	sensorineural hearing loss	12.7	COL11A1, COL2A1
11	campomelic dysplasia	12.6	COL2A1, COL9A2
12	pseudoachondroplasia	12.6	COL2A1, COL9A2
13	chorioretinitis	12.6	COL2A1, COL11A1
14	diastrophic dysplasia	12.5	COL2A1, COL9A2
15	spinal stenosis	12.5	COL9A2, COL11A1
16	leiomyomatosis	12.5	COL9A2, COL4A3
17	knobloch syndrome	12.5	ADAMTS18, COL18A1
18	encephalocele	12.4	COL18A1, ADAMTS18
19	clubfoot	12.4	COL9A2, COL2A1
20	encephaloceles	12.4	COL18A1, ADAMTS18
21	pierre robin sequence	12.4	COL11A1, COL2A1, COL9A2
22	epiphyseal dysplasia	12.4	COL11A1, COL2A1, COL9A2
23	multiple epiphyseal dysplasia	12.3	COL11A1, COL9A2, COL2A1
24	back pain	12.3	COL11A1, COL9A2
25	strabismus	12.3	COL11A1, COL2A1
26	cleft palate	12.2	COL11A1, COL2A1, COL9A2
27	hearing loss	11.8	COL4A3, COL2A1, COL11A1, COL9A2
28	cataract	11.4	ADAMTS18, COL2A1, COL11A1, LEPREL1, KCNJ13
29	myopia 6	10.7	COL18A1, LEPREL1, COL11A1, COL9A2, COL2A1, ADAMTS18
30	retinal detachment	10.3	KCNJ13, LEPREL1, COL9A2, ADAMTS18, COL2A1, COL11A1
31	retinitis	10.3	KCNJ13, LEPREL1, COL9A2, COL2A1, ADAMTS18, COL18A1
32	secondary vitreoretinal degeneration	8.8

Approved drugs:

Drug clinical trials:

Articles related to vitreoretinal degeneration:

id	Title	Authors	Year	Affiliating Genes
1	Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. (18179896)	Hejtmancik J.F.... Edwards A.O.	2008	KCNJ13
2	Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. (15557460)	Jiao X.... Edwards A.O.	2004	COL4A3, KCNJ13
3	Snowflake vitreoretinal degeneration: follow-up of the original family. (14644728)	Lee M.M.... Edwards A.O.	2003	COL2A1, COL11A1
4	A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. (11812423)	Gupta S.K.... Bulman D.E.	2002	COL2A1
5	Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. (11450497)	Parentin F.... Perissutti P.	2001	COL11A1

Genes related to vitreoretinal degeneration according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	KCNJ13	potassium inwardly-rectifying channel, subfamily J, member 13	11.1	Summaries, Publications
2	LEPREL1	leprecan-like 1	11.1	Summaries
3	COL4A3	collagen, type IV, alpha 3 (Goodpasture antigen)	11.0	Publications
4	COL2A1	collagen, type II, alpha 1	11.0	Publications
5	COL11A1	collagen, type XI, alpha 1	11.0	Publications
6	COL9A2	collagen, type IX, alpha 2	11.0
7	COL18A1	collagen, type XVIII, alpha 1	11.0
8	ADAMTS18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	11.0

Pathways related to vitreoretinal degeneration according to GeneDecks:

(show all 23)

id	Pathway	Score	Top Affiliating Genes
1	Metalloproteases in connective tissue degradation10	9.7	COL2A1, COL4A3
2	Cell adhesion_ECM remodeling41	9.6	COL4A3, COL2A1
3	Cytoskeleton remodeling Integrin outside-in signaling10	9.6	COL4A3, COL2A1
4	Cell adhesion ECM remodeling10	9.5	COL2A1, COL4A3
5	Cytoskeleton remodeling_Integrin outside-in signaling41	9.3	COL4A3, COL2A1
6	Axon guidance38	9.1	COL9A2, COL4A3, COL2A1
7	Collagen formation38	9.0	COL11A1, COL18A1, LEPREL1
8	Protein digestion and absorption20	8.1	COL2A1, COL11A1, COL18A1, COL9A2, KCNJ13
9	Intrinsic Prothrombin Activation Pathway36	8.0	COL4A3, COL2A1, COL11A1, COL9A2, COL18A1
10	Blood Coagulation Cascade36	8.0	COL18A1, COL4A3, COL9A2, COL2A1, COL11A1
11	Inhibition of Angiogenesis by TSP136	8.0	COL4A3, COL2A1, COL11A1, COL18A1, COL9A2
12	UPA-UPAR Pathway36	8.0	COL9A2, COL2A1, COL18A1, COL11A1, COL4A3
13	FAK1 Signaling36	8.0	COL4A3, COL2A1, COL11A1, COL18A1, COL9A2
14	Integrin Pathway36	8.0	COL4A3, COL9A2, COL18A1, COL11A1, COL2A1
15	GnRH Signaling36	7.9	COL9A2, COL18A1, COL2A1, COL4A3, COL11A1
16	PTEN Pathway36	7.9	COL18A1, COL2A1, COL9A2, COL11A1, COL4A3
17	Transendothelial Migration of Leukocytes36	7.9	COL9A2, COL4A3, COL18A1, COL2A1, COL11A1
18	Phospholipase-C Pathway36	7.9	COL9A2, COL18A1, COL11A1, COL2A1, COL4A3
19	ILK Signaling36	7.9	COL9A2, COL4A3, COL2A1, COL11A1, COL18A1
20	MAPK Signaling36	7.9	COL2A1, COL4A3, COL11A1, COL9A2, COL18A1
21	Rho Family GTPases36	7.9	COL4A3, COL2A1, COL11A1, COL18A1, COL9A2
22	ERK Signaling36	7.8	COL18A1, COL11A1, COL9A2, COL2A1, COL4A3
23	Molecular Mechanisms of Cancer36	7.8	COL4A3, COL2A1, COL9A2, COL18A1, COL11A1

Cellular components related to vitreoretinal degeneration according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	basement membrane	GO:005604	8.9	COL4A3, COL2A1, LEPREL1
2	extracellular region	GO:005576	7.6	COL4A3, COL2A1, COL11A1, COL18A1, COL9A2
3	endoplasmic reticulum lumen	GO:005788	7.2	COL4A3, COL2A1, COL11A1, COL18A1, COL9A2, LEPREL1

Biological processes related to vitreoretinal degeneration according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	collagen fibril organization	GO:030199	9.4	COL11A1, COL2A1
2	sensory perception of sound	GO:007605	9.2	COL4A3, COL2A1, COL11A1
3	negative regulation of cell proliferation	GO:008285	8.9	COL4A3, LEPREL1, COL18A1
4	axon guidance	GO:007411	8.7	COL9A2, COL4A3, COL2A1
5	visual perception	GO:007601	8.7	COL2A1, COL11A1, COL18A1
6	extracellular matrix organization	GO:030198	7.4	COL9A2, LEPREL1, COL4A3, COL18A1, COL11A1, COL2A1

Molecular functions related to vitreoretinal degeneration according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:005201	9.5	COL11A1, COL4A3
2	extracellular matrix structural constituent conferring tensile strength	GO:030020	9.1	COL9A2, COL2A1