MCID: CRT012
MIFTS: 42

Cortical Blindness

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Cortical Blindness

MalaCards integrated aliases for Cortical Blindness:

Name: Cortical Blindness 12 6 15
Blindness, Cortical 44 70

Classifications:



External Ids:

Disease Ontology 12 DOID:11831
ICD9CM 34 377.75
MeSH 44 D019575
NCIt 50 C118707
SNOMED-CT 67 68574006
ICD10 32 H47.61
UMLS 70 C0155320

Summaries for Cortical Blindness

MalaCards based summary : Cortical Blindness, also known as blindness, cortical, is related to mitochondrial dna depletion syndrome 4a and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, and has symptoms including amaurosis fugax An important gene associated with Cortical Blindness is GNB1 (G Protein Subunit Beta 1), and among its related pathways/superpathways are Prion disease and GABAergic synapse. Affiliated tissues include cortex, eye and heart, and related phenotypes are Reduced mammosphere formation and behavior/neurological

Wikipedia : 73 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 353)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 4a 32.2 POLG MT-ND5 MT-ND1
2 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.0 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1
3 hepatic coma 30.6 F3 F2
4 seizure disorder 30.5 PTEN POLG GNB1 DIAPH1 ALG13 ALDH7A1
5 sagittal sinus thrombosis 30.4 F3 F2
6 optic nerve disease 30.2 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1
7 intracranial embolism 30.2 F3 F2
8 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 30.1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
9 cerebral visual impairment 30.1 QARS1 PTEN GNB1 ALG13
10 mitochondrial encephalomyopathy 30.0 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1
11 kearns-sayre syndrome 30.0 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1
12 peripheral nervous system disease 29.9 PTEN POLG MT-ND6 MT-ND4 MT-ND1
13 lactic acidosis 29.8 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1 F2
14 seizures, cortical blindness, and microcephaly syndrome 11.7
15 developmental and epileptic encephalopathy 23 11.6
16 cortical blindness-intellectual disability-polydactyly syndrome 11.4
17 cortical blindness, retardation, and postaxial polydactyly 11.3
18 yemenite deaf-blind hypopigmentation syndrome 11.2
19 anton's syndrome 11.1
20 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.1
21 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 11.1
22 visual agnosia 11.0
23 adrenoleukodystrophy 11.0
24 mohr-tranebjaerg syndrome 11.0
25 salt and pepper developmental regression syndrome 11.0
26 asparagine synthetase deficiency 11.0
27 combined oxidative phosphorylation deficiency 24 11.0
28 developmental and epileptic encephalopathy 38 11.0
29 microcephaly 19, primary, autosomal recessive 11.0
30 developmental and epileptic encephalopathy 92 11.0
31 mitochondrial complex iv deficiency, nuclear type 7 11.0
32 mitochondrial complex iv deficiency, nuclear type 12 11.0
33 x-linked cerebral adrenoleukodystrophy 11.0
34 encephalopathy 10.6
35 pre-eclampsia 10.5
36 eclampsia 10.5
37 severe congenital neutropenia 1 10.4 MT-ND5 MT-ND1
38 toxic optic neuropathy 10.4 MT-ND6 MT-ND4
39 coenurosis 10.4 MT-ND4 MT-ND1
40 diphyllobothriasis 10.4 MT-ND5 MT-ND1
41 sparganosis 10.4 MT-ND4 MT-ND1
42 visual cortex disease 10.4 TIMM8A POLG DOCK7
43 visual pathway disease 10.4 TIMM8A POLG DOCK7
44 central nervous system origin vertigo 10.4 POLG F2
45 optic atrophy 4 10.4 MT-ND6 MT-ND4
46 achenbach syndrome 10.4 F3 F2
47 pearson marrow-pancreas syndrome 10.4 POLG MT-ND6 MT-ND4
48 neuropathy, ataxia, and retinitis pigmentosa 10.4 POLG MT-ND6 MT-ND4
49 renal pelvis squamous cell carcinoma 10.4 F3 F2
50 synovial angioma 10.4 F3 F2

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 Reduced mammosphere formation GR00396-S 9.17 ABCD1 ADARB1 DIAPH1 GRIN1 PTEN QARS1

MGI Mouse Phenotypes related to Cortical Blindness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ABCD1 ADARB1 ALDH7A1 COPB2 DOCK7 F2
2 cellular MP:0005384 10 ALDH7A1 COPB2 DIAPH1 F2 F3 GNB1
3 mortality/aging MP:0010768 9.97 ABCD1 ADARB1 ALDH7A1 COPB2 DIAPH1 DOCK7
4 nervous system MP:0003631 9.77 ABCD1 ADARB1 ALDH7A1 COPB2 DIAPH1 F2
5 normal MP:0002873 9.23 ABCD1 ADARB1 ALDH7A1 COPB2 F2 F3

Drugs & Therapeutics for Cortical Blindness

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study to Determine the Effect on Intraocular Pressure, Optic Nerve Imaging and Other Markers of Venous Congestion of Volunteer Subjects in the Prone Position for a Period of Five Hours Completed NCT00875043

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:

40
Cortex, Eye, Heart, Kidney, Occipital Lobe, Liver, Bone Marrow

Publications for Cortical Blindness

Articles related to Cortical Blindness:

(show top 50) (show all 1149)
# Title Authors PMID Year
1
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 6
27108799 2016
2
Transient cortical blindness secondary to contrast-induced encephalopathy following diagnostic cerebral angiography: report of 2 cases. 61
33123949 2021
3
Contrast-induced encephalopathy mimicking total anterior circulation stroke: a case report and review of the literature. 61
33089478 2021
4
Loss of DIAPH1 causes SCBMS, combined immunodeficiency and mitochondrial dysfunction. 61
33662367 2021
5
[Reversible Cerebral Vasoconstriction Syndrome(RCVS)and Posterior Reversible Encephalopathy Syndrome(PRES)]. 61
33762455 2021
6
Ozone-induced encephalopathy: A novel iatrogenic entity. 61
33657263 2021
7
Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene. 61
32617873 2021
8
Transient cortical blindness in fat embolism syndrome---a diagnostic enigma. 61
33627294 2021
9
Persistent Cortical Blindness Following Posterior Reversible Encephalopathy Syndrome (PRES) as a Complication of COVID-19 Pneumonia. 61
33500867 2021
10
Mitochondrial Myopathy, Encephalopathy, Lactic acidosis and Stroke-Like Episodes Syndrome Presenting With Anton-Babinski Syndrome and Concurrent Occipital Lobe Seizures. 61
33654593 2021
11
Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy. 61
33471954 2021
12
Early discrimination of cognitive motor dissociation from disorders of consciousness: pitfalls and clues. 61
32754829 2021
13
Transient Cortical Blindness After Coronary Angiography, Bypass Graft Angiography, and Coronary Angioplasty. 61
33425567 2021
14
Contrast-induced neurotoxicity related to neurological endovascular procedures: a systematic review. 61
32997325 2020
15
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease. 61
32904102 2020
16
Anton's syndrome as a presentation of Trousseau syndrome involving the bilateral optic radiation. 61
33233982 2020
17
A core outcome set for pre-eclampsia research: an international consensus development study. 61
32416644 2020
18
Surgical Treatment of a Child With Acute Cortical Blindness Caused by Depressed Skull Fracture. 61
32649557 2020
19
SARS-COV-2 infection during pregnancy, a risk factor for eclampsia or neurological manifestations of COVID-19? Case report. 61
33023500 2020
20
[Contrast induced encephalopathy; a rare but dramatic side effect of contrast media]. 61
33150578 2020
21
Bilateral posterior cerebral artery territory infarction in a SARS-Cov-2 infected patient: discussion about an unusual case. 61
32807489 2020
22
Development and validation of a prediction model on severe maternal outcomes among pregnant women with pre-eclampsia: a 10-year cohort study. 61
32973289 2020
23
Delayed cerebral ischemia causing cortical blindness due to repeat cocaine use weeks subsequent to aneurysmal subarachnoid hemorrhage. 61
32642017 2020
24
Ongoing sleep disruption in a 5-year-old child with cerebral palsy, cortical blindness and a history of pre-natal cerebral haemorrhage. 61
31943456 2020
25
Rare Cases of Contrast-Induced Encephalopathies. 61
33145256 2020
26
Transient contrast induced neurotoxicity after coronary angiography: A contrast re-challenge case. 61
32704302 2020
27
Pediatric abusive head trauma. 61
32330675 2020
28
Cerebellar Parieto-occipital Posterior Reversible Encephalopathy Syndrome and Cerebral Metamorphopsia Associated with Asymptomatic Atrial Septum Vegetation and Renal Disease: Case Report. 61
32516303 2020
29
Transient cortical blindness in COVID-19 pneumonia; a PRES-like syndrome: Case report. 61
32387762 2020
30
Anton's Syndrome associated with autotopagnosia. 61
30661390 2020
31
Cortical Laminar Necrosis as a Result of Status Epilepticus After Resection of Parafalcal Meningioma. 61
32243562 2020
32
[Clinical and imaging course of posterior reversible encephalopathy syndrome in a patient with endocarditis and arterial hypertension]. 61
32086534 2020
33
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms. 61
31735425 2020
34
Recurrent epileptic seizures following cardiac catheterization with iodixanol: a case report. 61
32054458 2020
35
Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia. 61
32612635 2020
36
Neurotoxicity Associated with Radiological Contrast Agents Used during Coronary Angiography: A Systematic Review. 61
32440532 2020
37
The Superior Colliculus and Amygdala Support Evaluation of Face Trait in Blindsight. 61
32765417 2020
38
Moyamoya Disease Associated With Morning Glory Disc Anomaly and Other Ophthalmic Findings: A Mini-Review. 61
32499749 2020
39
[POSTERIOR REVERSIBLE ENCEPHALOPATHY SYNDROME IN CHILDREN (CASE REPORT)]. 61
32141847 2020
40
Cyclosporine-A-Based Immunosuppressive Therapy-Induced Neurotoxicity: A Case Report. 61
32431553 2020
41
Rapid Recovery From Cortical Blindness Caused by an Old Cerebral Infarction. 61
32117028 2020
42
Reversible Cortical Blindness in Pediatric Native Valve Endocarditis. 61
31929392 2020
43
Accelerated visual recovery from protracted hypoxic cortical blindness in a child. 61
31517136 2019
44
Anton's syndrome: a rare and unusual form of blindness. 61
31801772 2019
45
Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes. 61
31904124 2019
46
Right Anterior Parasagittal Craniotomy and Interhemispheric Approach for Resection of a Falcontentorial Junction Meningioma: 2-Dimensional Operative Video. 61
31728548 2019
47
[A case of adult-onset mitochondrial encephalopathy due to m.4296G>A gene abnormality]. 61
31564700 2019
48
Cortical blindness due to cerebral infarct in advanced pancreatic cancer. 61
31371327 2019
49
Recovery from cortical blindness with mepivacaïne. 61
31402624 2019
50
Reversible posterior encephalopathy syndrome in a 10-year-old child. 61
30281063 2019

Variations for Cortical Blindness

ClinVar genetic disease variations for Cortical Blindness:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTEN NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) SNV Pathogenic 233777 rs876660634 GRCh37: 10:89685308-89685308
GRCh38: 10:87925551-87925551
2 GNB1 NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) SNV Pathogenic 224715 rs752746786 GRCh37: 1:1737942-1737942
GRCh38: 1:1806503-1806503
3 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) SNV Pathogenic 224716 rs869312824 GRCh37: 1:1736004-1736004
GRCh38: 1:1804565-1804565
4 ALG13 NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn) SNV Likely pathogenic 598969 rs1569508922 GRCh37: X:110924496-110924496
GRCh38: X:111681268-111681268
5 QARS1 NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) SNV Likely pathogenic 598952 rs185476065 GRCh37: 3:49137655-49137655
GRCh38: 3:49100222-49100222
6 QARS1 NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys) SNV Likely pathogenic 598953 rs1172486173 GRCh37: 3:49137039-49137039
GRCh38: 3:49099606-49099606
7 POLG NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) SNV Uncertain significance 458712 rs140079523 GRCh37: 15:89862193-89862193
GRCh38: 15:89318962-89318962
8 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) SNV Likely benign 68638 rs121918808 GRCh37: 2:166850674-166850674
GRCh38: 2:165994164-165994164

Expression for Cortical Blindness

Search GEO for disease gene expression data for Cortical Blindness.

Pathways for Cortical Blindness

Pathways related to Cortical Blindness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 MT-ND6 MT-ND5 MT-ND4 MT-ND1 GRIN1
2
Show member pathways
11.54 MT-ND6 MT-ND5 MT-ND4 MT-ND1 GNB1

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 mitochondrial inner membrane GO:0005743 9.72 TIMM8A MT-ND6 MT-ND5 MT-ND4 MT-ND1
2 mitochondrion GO:0005739 9.61 TIMM8A PTEN POLG MT-ND6 MT-ND5 MT-ND4
3 mitochondrial membrane GO:0031966 9.56 MT-ND6 MT-ND4 MT-ND1 ABCD1
4 mitochondrial respiratory chain complex I GO:0005747 9.33 MT-ND5 MT-ND4 MT-ND1
5 respiratory chain GO:0070469 8.92 MT-ND6 MT-ND5 MT-ND4 MT-ND1

Biological processes related to Cortical Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.5 PTEN MT-ND4 GRIN1
2 ATP synthesis coupled electron transport GO:0042773 9.26 MT-ND5 MT-ND4
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 MT-ND6 MT-ND5 MT-ND4 MT-ND1
4 electron transport coupled proton transport GO:0015990 9.16 MT-ND5 MT-ND4
5 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.92 MT-ND6 MT-ND5 MT-ND4 MT-ND1

Molecular functions related to Cortical Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase activity GO:0003954 9.13 MT-ND5 MT-ND4 MT-ND1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 MT-ND6 MT-ND5 MT-ND4 MT-ND1

Sources for Cortical Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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