Aliases & Classifications for Cortical Blindness

MalaCards integrated aliases for Cortical Blindness:

Name: Cortical Blindness 12 15
Blindness, Cortical 45 74

Classifications:



External Ids:

Disease Ontology 12 DOID:11831
ICD9CM 36 377.75
MeSH 45 D019575
NCIt 51 C118707
SNOMED-CT 69 68574006
ICD10 34 H47.61
UMLS 74 C0155320

Summaries for Cortical Blindness

MalaCards based summary : Cortical Blindness, also known as blindness, cortical, is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and peripheral nervous system disease, and has symptoms including amaurosis fugax An important gene associated with Cortical Blindness is DOCK7 (Dedicator Of Cytokinesis 7). The drugs Fludarabine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are Decreased Salmonella enterica Typhimurium effector injection and Decreased Salmonella enterica Typhimurium membrane closure

Wikipedia : 77 Cortical blindness is the total or partial loss of vision in a normal-appearing eye caused by damage to... more...

Related Diseases for Cortical Blindness

Diseases related to Cortical Blindness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.1 MT-ND6 POLG
2 peripheral nervous system disease 29.0 MT-ND6 POLG
3 seizures, cortical blindness, and microcephaly syndrome 12.6
4 cortical blindness-intellectual disability-polydactyly syndrome 12.4
5 cortical blindness, retardation, and postaxial polydactyly 12.3
6 epileptic encephalopathy, early infantile, 23 12.1
7 anton's syndrome 11.9
8 mitochondrial dna depletion syndrome 4a 11.2
9 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.2
10 adrenoleukodystrophy 11.0
11 mohr-tranebjaerg syndrome 11.0
12 salt and pepper developmental regression syndrome 11.0
13 microcephaly 19, primary, autosomal recessive 11.0
14 epileptic encephalopathy, infantile or early childhood, 2 11.0
15 childhood-onset cerebral x-linked adrenoleukodystrophy 11.0
16 visual agnosia 11.0
17 yemenite deaf-blind hypopigmentation syndrome 10.8
18 encephalopathy 10.3
19 eclampsia 10.3
20 visual cortex disease 10.1 DOCK7 TIMM8A
21 meningitis 10.1
22 visual pathway disease 10.1 DOCK7 TIMM8A
23 amnestic disorder 10.1
24 glomerulonephritis 10.0
25 cardiac arrest 10.0
26 pre-eclampsia 10.0
27 hydrocephalus 10.0
28 anosognosia 10.0
29 thrombosis 10.0
30 endocarditis 10.0
31 hepatic coma 10.0
32 severe pre-eclampsia 10.0
33 hellp syndrome 10.0
34 hepatic encephalopathy 10.0
35 hypoglycemia 10.0
36 cranial nerve disease 9.9 MT-ND6 POLG
37 porphyria, acute intermittent 9.9
38 panencephalitis, subacute sclerosing 9.9
39 quadriplegia 9.9
40 dementia 9.9
41 porphyria 9.9
42 status epilepticus 9.9
43 epilepsy 9.9
44 congenital hydrocephalus 9.9
45 head injury 9.9
46 neonatal hypoxic and ischemic brain injury 9.9
47 mitochondrial myopathy 9.9 MT-ND6 POLG
48 lactic acidosis 9.9 MT-ND6 POLG
49 3-methylglutaconic aciduria, type iii 9.9 MT-ND6 TIMM8A
50 thrombophilia due to thrombin defect 9.8

Comorbidity relations with Cortical Blindness via Phenotypic Disease Network (PDN):


Acute Cystitis Familial Atrial Fibrillation
Hypertension, Essential Intracranial Embolism

Graphical network of the top 20 diseases related to Cortical Blindness:



Diseases related to Cortical Blindness

Symptoms & Phenotypes for Cortical Blindness

UMLS symptoms related to Cortical Blindness:


amaurosis fugax

GenomeRNAi Phenotypes related to Cortical Blindness according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella enterica Typhimurium effector injection GR00133-A-4 9.16 COPB2 DIAPH1
2 Decreased Salmonella enterica Typhimurium membrane closure GR00133-A-6 8.96 COPB2 DIAPH1
3 Decreased Salmonella-containing vacuole maturation GR00133-A-2 8.62 COPB2 DIAPH1

MGI Mouse Phenotypes related to Cortical Blindness:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.1 COPB2 DIAPH1 DOCK7 GRIN1 MT-ND6 POLG

Drugs & Therapeutics for Cortical Blindness

Drugs for Cortical Blindness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 3 75607-67-9, 21679-14-1 30751
2
Busulfan Approved, Investigational Phase 3,Phase 2 55-98-1 2478
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
5 Pharmaceutical Solutions Phase 3,Phase 2
6 Trace Elements Phase 3
7 Vitamin B9 Phase 3
8 Vitamin B Complex Phase 3
9 Folate Phase 3
10 Nutrients Phase 3
11 Micronutrients Phase 3
12 Vitamins Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT03852498 Phase 3 Genetic
2 A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Active, not recruiting NCT01896102 Phase 2, Phase 3
3 Inositol to Reduce Retinopathy of Prematurity Terminated NCT01954082 Phase 3 myo-Inositol 5% Injection;Placebo
4 Determine the Effect of Intraocular Pressure (IOP), Optic Nerve Imaging, Venous Congestion in Volunteers Prone Position 5 Hours Completed NCT00875043
5 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
6 Intraocular Pressure During Prone Spinal Surgery Terminated NCT00176722

Search NIH Clinical Center for Cortical Blindness

Cochrane evidence based reviews: blindness, cortical

Genetic Tests for Cortical Blindness

Anatomical Context for Cortical Blindness

MalaCards organs/tissues related to Cortical Blindness:

42
Brain, Eye, Cortex, Liver, Prostate, Heart, Bone

Publications for Cortical Blindness

Articles related to Cortical Blindness:

(show top 50) (show all 435)
# Title Authors Year
1
Bilateral middle cerebral artery haemorrhagic infarcts presenting only as cortical blindness. ( 30723089 )
2019
2
Transient global amnesia and transient cortical blindness secondary to contrast induced encephalopathy after renal artery angiography. ( 30929878 )
2019
3
Subarachnoid gadolinium following angiography-induced cortical blindness [corrected]. ( 29437876 )
2018
4
Cortical blindness as a rare presentation of hemorrhagic cerebral hyperperfusion syndrome following vertebral angioplasty. ( 29563211 )
2018
5
Cortical Blindness and Altered Mental Status following Routine Hemodialysis, a Case of Iatrogenic Cerebral Air Embolism. ( 29732225 )
2018
6
Persistent cortical blindness following total laparoscopic distal gastrectomy. ( 29960138 )
2018
7
Correction: Subarachnoid gadolinium following angiography-induced cortical blindness. ( 29970594 )
2018
8
Selenium Toxicity Associated With Reversible Leukoencephalopathy and Cortical Blindness. ( 29971355 )
2018
9
Transient cortical blindness in posterior reversible encephalopathy syndrome after postpartum eclampsia. ( 30038892 )
2018
10
Transient Cortical Blindness Associated with Endovascular Procedures for Intracranial Aneurysms. ( 30077753 )
2018
11
Delayed cortical blindness in hypoxic-ischemic encephalopathy. ( 30505959 )
2018
12
Contrast-associated transient cortical blindness: three cases with MRI and electrophysiology findings. ( 27670442 )
2017
13
Cortical Blindness in a Child Secondary to Mycoplasma pneumoniae Infection. ( 27789154 )
2017
14
Delayed Transient Cortical Blindness from Hypoxic Ischemic Encephalopathy. ( 28390792 )
2017
15
Transient cortical blindness following intracardiac repair of congenital heart disease in an 11-year-old boy. ( 28393793 )
2017
16
Patient With Severe Moyamoya Disease Who Presents With Acute Cortical Blindness. ( 28411258 )
2017
17
Cortical blindness as severe neuro-ophthalmological manifestation of tuberous sclerosis complex. ( 28435768 )
2017
18
(Almost) Lost at SEA: An Unusual Cause of Cortical Blindness. ( 28436816 )
2017
19
A Case Report of Transient Cortical Blindness After Angiography. ( 28471896 )
2017
20
Delayed-onset Reversible Cortical Blindness after Resuscitation from Cardiac Arrest. ( 28936091 )
2017
21
Freiburg Neuropathology Case Conference : Widespread White Matter Lesions in a Patient with Progressive Paraparesis and Cortical Blindness. ( 28477181 )
2017
22
Visual and Motor Recovery After "Cognitive Therapeutic Exercises" in Cortical Blindness: A Case Study. ( 28628550 )
2017
23
Cortical blindness and not optic neuritis as a cause of vision loss in a Sjögren's syndrome (SS) patient with the neuromyelitis optica spectrum disorder (NMOSD): Challenges of ascribing demyelinating syndromes to SS: a case report. ( 28834867 )
2017
24
From Cortical Blindness to Conscious Visual Perception: Theories on Neuronal Networks and Visual Training Strategies. ( 28912694 )
2017
25
Cortical Blindness in Systemic Lupus Erythematosus: The Blind Wolf. ( 28937478 )
2017
26
Cortical blindness as a rare presentation of hemorrhagic cerebral hyperperfusion syndrome following vertebral angioplasty. ( 29084739 )
2017
27
Cortical blindness induced by hepatic encephalopathy: case report and review of published case reports. ( 29123845 )
2017
28
Cortical blindness secondary to posterior reversible encephalopathy syndrome, recovered by successful blood pressure management. ( 29160546 )
2017
29
Contrast media induced transient cortical blindness. ( 26101228 )
2016
30
Anti-NMDA-receptor antibody-mediated cortical blindness: a case report. ( 26319702 )
2016
31
Relearning to See in Cortical Blindness. ( 26659828 )
2016
32
Cortical Blindness After Cardiac Surgery: Just an Ischemic Mechanism? ( 26746795 )
2016
33
Transient cortical blindness and amnesia after cerebral angiography. ( 26755011 )
2016
34
Case Report of Vestibularly evoked Visual Hallucinations in a Patient with Cortical Blindness. ( 27246956 )
2016
35
Cortical blindness post coronary angiogram: A rare but frightening complication. ( 27490944 )
2016
36
Residual perception of biological motion in cortical blindness. ( 27851900 )
2016
37
Transient cortical blindness after intradiscal oxygen-ozone therapy. ( 28112142 )
2016
38
Post-traumatic transient cortical blindness in a child with occipital bone fracture. ( 27707613 )
2016
39
Cortical blindness along with motor aphasia: An unusual presentation of fat embolism syndrome. ( 28018064 )
2016
40
Incidental Transient Cortical Blindness after Lung Resection. ( 28824977 )
2016
41
Ornithine transcarbamylase deficiency presenting with acute reversible cortical blindness. ( 24850570 )
2015
42
Visual imagery influences brain responses to visual stimulation in bilateral cortical blindness. ( 25571770 )
2015
43
A case of transient cortical blindness associated with hypercapnia as a result of extremely enlarged adenoid tissue. ( 25606839 )
2015
44
Teaching neuroImages: Cortical blindness following acute obstructive hydrocephalus by a colloid cyst. ( 25666637 )
2015
45
Transient cortical blindness following vertebral angiography: a case report. ( 25763297 )
2015
46
Acute cortical blindness caused by pre-eclampsia in the antepartum; posterior reversible encephalopathy syndrome (PRES). ( 26124823 )
2015
47
Visual recovery in cortical blindness is limited by high internal noise. ( 26389544 )
2015
48
Looming sensitive cortical regions without V1 input: evidence from a patient with bilateral cortical blindness. ( 26557059 )
2015
49
Late onset reversible cortical blindness following electrocution. ( 26571457 )
2015
50
A Rare Hydrocephalus Complication: Cortical Blindness. ( 27411424 )
2015

Variations for Cortical Blindness

Expression for Cortical Blindness

Search GEO for disease gene expression data for Cortical Blindness.

Pathways for Cortical Blindness

GO Terms for Cortical Blindness

Cellular components related to Cortical Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 terminal bouton GO:0043195 8.62 GRIN1 POLG

Sources for Cortical Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....