Aliases & Classifications for Cortical Blindness

MalaCards integrated aliases for Cortical Blindness:

Name: Cortical Blindness 12 15
Blindness, Cortical 44 73

Classifications:



External Ids:

Disease Ontology 12 DOID:11831
ICD10 33 H47.61
ICD9CM 35 377.75
MeSH 44 D019575
NCIt 50 C118707
SNOMED-CT 68 68574006
UMLS 73 C0155320

Summaries for Cortical Blindness

MalaCards based summary : Cortical Blindness, also known as blindness, cortical, is related to epilepsy and seizures, cortical blindness, and microcephaly syndrome, and has symptoms including amaurosis fugax An important gene associated with Cortical Blindness is DOCK7 (Dedicator Of Cytokinesis 7). The drugs Busulfan and Cyclophosphamide 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 : 76 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 132)
# Related Disease Score Top Affiliating Genes
1 epilepsy 29.1 ALDH7A1 IER3IP1 POLG
2 seizures, cortical blindness, and microcephaly syndrome 12.6
3 cortical blindness-intellectual disability-polydactyly syndrome 12.4
4 cortical blindness, retardation, and postaxial polydactyly 12.2
5 epileptic encephalopathy, early infantile, 23 11.8
6 anton's syndrome 11.5
7 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 11.4
8 mitochondrial dna depletion syndrome 4a 11.1
9 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.1
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 encephalopathy 10.3
18 eclampsia 10.3
19 meningitis 10.1
20 yemenite deaf-blind hypopigmentation syndrome 10.0
21 glomerulonephritis 10.0
22 cardiac arrest 10.0
23 pre-eclampsia 10.0
24 hydrocephalus 9.9
25 anosognosia 9.9
26 thrombosis 9.9
27 endocarditis 9.9
28 hepatic encephalopathy 9.9
29 hypoglycemia 9.9
30 spinocerebellar degeneration 9.9 ABCD1 POLG
31 cerebral degeneration 9.9 ABCD1 POLG
32 benign epilepsy with centrotemporal spikes 9.9 GRIN1 IER3IP1
33 porphyria, acute intermittent 9.9
34 panencephalitis, subacute sclerosing 9.9
35 dementia 9.9
36 hellp syndrome 9.9
37 porphyria 9.9
38 status epilepticus 9.9
39 head injury 9.9
40 neonatal hypoxic and ischemic brain injury 9.9
41 visual cortex disease 9.9 DOCK7 IER3IP1 TIMM8A
42 visual pathway disease 9.9 DOCK7 IER3IP1 TIMM8A
43 thrombophilia due to thrombin defect 9.8
44 moyamoya disease 1 9.8
45 asthma 9.8
46 stroke, ischemic 9.8
47 aceruloplasminemia 9.8
48 infective endocarditis 9.8
49 hemiplegia 9.8
50 quadriplegia 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:

26
# 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

Drugs & Therapeutics for Cortical Blindness

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Inositol to Reduce Retinopathy of Prematurity Terminated NCT01954082 Phase 3 myo-Inositol 5% Injection;Placebo
3 Determine the Effect of Intraocular Pressure (IOP), Optic Nerve Imaging, Venous Congestion in Volunteers Prone Position 5 Hours Completed NCT00875043
4 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
5 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:

41
Brain, Eye, Cortex, Liver, Heart, Bone, Kidney

Publications for Cortical Blindness

Articles related to Cortical Blindness:

(show top 50) (show all 434)
# Title Authors Year
1
Transient cortical blindness following gadolinium contrast. ( 29437876 )
2018
2
Cortical blindness as a rare presentation of hemorrhagic cerebral hyperperfusion syndrome following vertebral angioplasty. ( 29563211 )
2018
3
Selenium Toxicity Associated With Reversible Leukoencephalopathy and Cortical Blindness. ( 29971355 )
2018
4
Persistent cortical blindness following total laparoscopic distal gastrectomy. ( 29960138 )
2018
5
Correction: <i>Subarachnoid gadolinium following angiography-induced cortical blindness</i>. ( 29970594 )
2018
6
Cortical Blindness and Altered Mental Status following Routine Hemodialysis, a Case of Iatrogenic Cerebral Air Embolism. ( 29732225 )
2018
7
Transient cortical blindness in posterior reversible encephalopathy syndrome after postpartum eclampsia. ( 30038892 )
2018
8
Transient Cortical Blindness Associated with Endovascular Procedures for Intracranial Aneurysms. ( 30077753 )
2018
9
Delayed cortical blindness in hypoxic-ischemic encephalopathy. ( 30505959 )
2018
10
Cortical Blindness in a Child Secondary to Mycoplasma pneumoniae Infection. ( 27789154 )
2017
11
Cortical blindness and not optic neuritis as a cause of vision loss in a SjAPgren's syndrome (SS) patient with the neuromyelitis optica spectrum disorder (NMOSD): Challenges of ascribing demyelinating syndromes to SS: a case report. ( 28834867 )
2017
12
From Cortical Blindness to Conscious Visual Perception: Theories on Neuronal Networks and Visual Training Strategies. ( 28912694 )
2017
13
Visual and Motor Recovery After &amp;quot;Cognitive Therapeutic Exercises&amp;quot; in Cortical Blindness: A Case Study. ( 28628550 )
2017
14
Patient With Severe Moyamoya Disease Who Presents With Acute Cortical Blindness. ( 28411258 )
2017
15
Cortical blindness as a rare presentation of hemorrhagic cerebral hyperperfusion syndrome following vertebral angioplasty. ( 29084739 )
2017
16
Cortical Blindness in Systemic Lupus Erythematosus: The Blind Wolf. ( 28937478 )
2017
17
Transient cortical blindness following intracardiac repair of congenital heart disease in an 11-year-old boy. ( 28393793 )
2017
18
Delayed-onset Reversible Cortical Blindness after Resuscitation from Cardiac Arrest. ( 28936091 )
2017
19
Delayed Transient Cortical Blindness from Hypoxic Ischemic Encephalopathy. ( 28390792 )
2017
20
A Case Report of Transient Cortical Blindness After Angiography. ( 28471896 )
2017
21
Freiburg Neuropathology Case Conference : Widespread White Matter Lesions in aA Patient with Progressive Paraparesis and Cortical Blindness. ( 28477181 )
2017
22
Cortical blindness secondary to posterior reversible encephalopathy syndrome, recovered by successful blood pressure management. ( 29160546 )
2017
23
(Almost) Lost at SEA: An Unusual Cause of Cortical Blindness. ( 28436816 )
2017
24
Cortical blindness as severe neuro-ophthalmological manifestation of tuberous sclerosis complex. ( 28435768 )
2017
25
Cortical blindness induced by hepatic encephalopathy: case report and review of published case reports. ( 29123845 )
2017
26
Cortical blindness along with motor aphasia: An unusual presentation of fat embolism syndrome. ( 28018064 )
2016
27
Transient cortical blindness and amnesia after cerebral angiography. ( 26755011 )
2016
28
Post-traumatic transient cortical blindness in a child with occipital bone fracture. ( 27707613 )
2016
29
Relearning to See in Cortical Blindness. ( 26659828 )
2016
30
Transient cortical blindness after intradiscal oxygen-ozone therapy. ( 28112142 )
2016
31
Cortical blindness post coronary angiogram: A rare but frightening complication. ( 27490944 )
2016
32
Contrast-associated transient cortical blindness: three cases with MRI and electrophysiology findings. ( 27670442 )
2016
33
Residual perception of biological motion in cortical blindness. ( 27851900 )
2016
34
Case Report of Vestibularly evoked Visual Hallucinations in a Patient with Cortical Blindness. ( 27246956 )
2016
35
Incidental Transient Cortical Blindness after Lung Resection. ( 28824977 )
2016
36
Cortical Blindness After Cardiac Surgery: Just an Ischemic Mechanism? ( 26746795 )
2015
37
Transient cortical blindness following vertebral angiography: a case report. ( 25763297 )
2015
38
A case of transient cortical blindness associated with hypercapnia as a result of extremely enlarged adenoid tissue. ( 25606839 )
2015
39
Contrast media induced transient cortical blindness. ( 26101228 )
2015
40
Late onset reversible cortical blindness following electrocution. ( 26571457 )
2015
41
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. ( 26531641 )
2015
42
Teaching neuroImages: cortical blindness following acute obstructive hydrocephalus by a colloid cyst. ( 25666637 )
2015
43
A Rare Hydrocephalus Complication: Cortical Blindness. ( 27411424 )
2015
44
Looming sensitive cortical regions without V1 input: evidence from a patient with bilateral cortical blindness. ( 26557059 )
2015
45
Anti-NMDA-receptor antibody-mediated cortical blindness: a case report. ( 26319702 )
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
Transient cortical blindness: a benign but devastating complication after coronary angiography and graft study. ( 25823165 )
2014
49
Recurrent bilateral occipital infarct with cortical blindness and anton syndrome. ( 24744933 )
2014
50
The coupling of vision with locomotion in cortical blindness. ( 24832646 )
2014

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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