Cortical Blindness malady

Wikipedia: Cortical blindness is the total or partial loss of vision in a normal-appearing eye caused by damage to...⁴⁴ more...

MalaCards: Cortical Blindness, also known as cortical blindness (disorder), is related to blindness and mohr-tranebjaerg syndrome. An important gene associated with Cortical Blindness is IFNA10 (interferon, alpha 10), and among its related pathways are Extrinsic Prothrombin Activation Pathway and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds aprosulate and napsagatran have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex.

Aliases & Descriptions:

cortical blindness 6 8 cortical blindness (disorder) 6

blindness, cortical 43

Diseases related to cortical blindness by text searches and GeneDecks gene sharing:

(show top 50)    (show all 79)

id	Related Disease	Score	Top Affiliating Genes
1	blindness	22.4	MT-ND1, MT-ND4, MT-ND5, MT-ND6, SLC26A5, POLG
2	mohr-tranebjaerg syndrome	13.4	TIMM13, TIMM8A
3	familial deafness	13.4	TIMM8A, TIMM13
4	prothrombin deficiency	13.1	F3, F2
5	peripheral vertigo	13.1	F2, F3
6	acute fatty liver of pregnancy	13.1	F2, F3
7	factor x deficiency	13.1	F2, F3
8	acquired von willebrand syndrome	13.1	F3, F2
9	lymphoplasmacytic lymphoma	13.1	F3, F2
10	fournier gangrene	13.1	F3, F2
11	factor v deficiency	13.1	F2, F3
12	hemarthrosis	13.1	F2, F3
13	acute liver failure	13.1	F2, POLG
14	hantavirus pulmonary syndrome	13.1	F2, F3
15	ruptured abdominal aortic aneurysm	13.1	F3, F2
16	acute biphenotypic leukemia	13.1	F2, F3
17	vitamin k deficiency hemorrhagic disease	13.1	F2, F3
18	purpura fulminans	13.0	F3, F2
19	hepatitis d	13.0	IFNA10, F2
20	factor xi deficiency	13.0	F3, F2
21	achenbach syndrome	13.0	F2, F3
22	hemorrhagic disease	13.0	F3, F2
23	factor xii deficiency	13.0	F3, F2
24	von willebrand's disease	13.0	F2, F3
25	thrombophlebitis	12.9	F3, F2
26	factor vii deficiency	12.9	F2, F3
27	hypofibrinogenemia	12.9	F3, F2
28	factor viii deficiency	12.9	F3, F2
29	mitochondrial encephalomyopathy	12.9	MT-ND5, POLG, TIMM8A
30	afibrinogenemia	12.9	F2, F3
31	hemophilia	12.8	F2, ABCD1, F3
32	crimean-congo hemorrhagic fever	12.8	F2, F3
33	kearns-sayre syndrome	12.7	MT-ND5, MT-ND6
34	bleeding diathesis due to gnaq deficiency	12.7	F2, F3
35	leber hereditary optic neuropathy with dystonia	12.6	MT-ND4, MT-ND6
36	hemophilia b	12.6	F3, F2
37	dengue hemorrhagic fever	12.5	IFNA10, F3, F2
38	familial dystonia	12.5	MT-ND6, MT-ND4
39	optic nerve disease	12.5	MT-ND6, MT-ND4
40	mitochondrial complex i deficiency	12.4	MT-ND1, MT-ND6, MT-ND5
41	leukodystrophy	12.4	ABCD1, ASPA, MT-ND6, MT-ND5
42	ischemic optic neuropathy	12.3	MT-ND1, F2
43	hereditary neuropathies	12.1	MT-ND6, MT-ND1, MT-ND4
44	aicardi-goutieres syndrome	12.1	MT-ND5, F2, PRNP, POLG
45	melas syndrome	12.1	MT-ND5, MT-ND4, MT-ND6
46	leigh disease	12.1	MT-ND6, MT-ND4, MT-ND5
47	prion disease	12.0	SLC26A5, POLG, F3, ALDH7A1, PRNP
48	lactic acidosis	11.9	MT-ND5, POLG, MT-ND1, MT-ND4
49	type 2 diabetes mellitus	11.9	F2, F3, ASPA, MT-ND1, MT-ND5
50	neurodegenerative disease	11.8	ASPA, MT-ND1, ABCD1, POLG, TIMM8A, PRNP

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to cortical blindness:

²²

Articles related to cortical blindness:

id	Title	Authors	Year	Affiliating Genes
1	Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. (19294602)	Kluger G.... Plecko B.	2008	ALDH7A1
2	Sudden cortical blindness in an adult with moyamoya disease. (17320646)	Kim D.S.... Kim M.C.	2007	F2, F3

Genes related to cortical blindness according to GeneCards:

(show all 16)

id	Symbol	Description	Score	GeneCards Section Context
1	IFNA10	interferon, alpha 10	11.0
2	TIMM13	translocase of inner mitochondrial membrane 13 homolog (yeast)	11.0
3	TIMM8A	translocase of inner mitochondrial membrane 8 homolog A (yeast)	11.0
4	ALDH7A1	aldehyde dehydrogenase 7 family, member A1	11.0	Publications
5	ABCD1	ATP-binding cassette, sub-family D (ALD), member 1	11.0
6	ASPA	aspartoacylase	11.0
7	POLG	polymerase (DNA directed), gamma	11.0
8	ACER3	alkaline ceramidase 3	11.0
9	SLC26A5	solute carrier family 26, member 5 (prestin)	11.0
10	F2	coagulation factor II (thrombin)	11.0	Publications
11	PRNP	prion protein	11.0
12	MT-ND5	mitochondrially encoded NADH dehydrogenase 5	11.0
13	MT-ND1	mitochondrially encoded NADH dehydrogenase 1	11.0
14	F3	coagulation factor III (thromboplastin, tissue factor)	11.0	Publications
15	MT-ND6	mitochondrially encoded NADH dehydrogenase 6	11.0
16	MT-ND4	mitochondrially encoded NADH dehydrogenase 4	11.0

Pathways related to cortical blindness according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Extrinsic Prothrombin Activation Pathway36	9.5	F3, F2
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.38	8.2	MT-ND5, MT-ND4, MT-ND1, MT-ND6
3	Parkinsons disease20	8.2	MT-ND6, MT-ND1, MT-ND4, MT-ND5
4	Oxidative phosphorylation20	8.1	MT-ND6, MT-ND1, MT-ND4, MT-ND5
5	Metabolic pathways20	7.3	POLG, ALDH7A1, MT-ND6, MT-ND1, MT-ND4, MT-ND5

Compounds related to cortical blindness according to GeneDecks:

(show all 39)

id	Compound	Score	Top Affiliating Genes
1	aprosulate32	9.9	F2, F3
2	napsagatran32	9.9	F2, F3
3	brodifacoum32	9.9	F2, F3
4	mnpt32	9.9	F2, F3
5	appt32	9.9	F2, F3
6	hemochron32	9.9	F2, F3
7	certoparin32	9.9	F2, F3
8	heparin sodium32	9.9	F2, F3
9	inogatran32	9.9	F2, F3
10	dextran 7032	9.9	F3, F2
11	ecarin32	9.9	F3, F2
12	polybrene32	9.8	F2, F3
13	spectrozyme32	9.8	F2, F3
14	s-warfarin32	9.8	F2, F3
15	hepaplastin32	9.8	F2, F3
16	rivaroxaban32 9 9	11.8	F2, F3
17	danaparoid32	9.8	F2, F3
18	kaolin32	9.8	F2, F3
19	organon32	9.8	F2, F3
20	ximelagatran32 9 9	11.8	F2, F3
21	vitamin k132 18	10.8	F2, F3
22	heparinoids32	9.8	F2, F3
23	fondaparinux32	9.7	F3, F2
24	acenocoumarol32 34 9 9	12.7	F2, F3
25	phenprocoumon32 34 9 9	12.7	F2, F3
26	bivalirudin32 9 9	11.7	F2, F3
27	coumarins32	9.6	F2, F3
28	argatroban32 9 9	11.6	F2, F3
29	hydroxyethyl starch32	9.5	F2, F3
30	ppack32	9.5	F2, F3
31	tirofiban32 9 9	11.5	F3, F2
32	tranexamic acid32 9 9	11.4	F2, F3
33	protamine sulfate32	9.2	F3, F2
34	isoleucine32	9.1	MT-ND4, MT-ND6, PRNP
35	methionine32	8.5	MT-ND5, MT-ND1, MT-ND6, PRNP
36	nadh32 9 18 9	11.3	ALDH7A1, MT-ND6, MT-ND1, MT-ND4, MT-ND5
37	atp32	8.3	POLG, PRNP, ABCD1, MT-ND1, MT-ND4, MT-ND5
38	valine32	8.2	MT-ND5, MT-ND4, MT-ND1, MT-ND6, PRNP
39	alanine32	7.4	POLG, PRNP, F2, F3, MT-ND6, MT-ND1

Cellular components related to cortical blindness according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial intermembrane space protein transporter complex	GO:042719	10.0	TIMM13, TIMM8A

Biological processes related to cortical blindness according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein import into mitochondrial inner membrane	GO:045039	9.9	TIMM13, TIMM8A
2	chaperone-mediated protein transport	GO:072321	9.7	TIMM13, TIMM8A
3	sensory perception of sound	GO:007605	9.6	ALDH7A1, TIMM13, SLC26A5