PedAM

Pediatric Disease Annotations & Medicines


	cortical blindness

Disease ID	1548
Disease	cortical blindness
Definition	Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)
Synonym	blindness cortical blindness, cortical blindness, cortical [disease/finding] cortical blindness (disorder)
DOID	DOID:11831
UMLS	C0155320
MeSH	D019575
SNOMED-CT	SNOMEDCT_US_2016_09_01:68574006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:19) C0040053 \| thrombosis \| 2 C0037198 \| sinus thrombosis \| 2 C0456909 \| vision loss \| 1 C0234507 \| anosognosia \| 1 C0162565 \| acute intermittent porphyria \| 1 C0021843 \| intestinal obstruction \| 1 C0268542 \| ornithine transcarbamylase deficiency \| 1 C0013537 \| eclampsia \| 1 C0034152 \| henoch-schonlein purpura \| 1 C0024534 \| cerebral malaria \| 1 C0014060 \| encephalitis c \| 1 C0032708 \| porphyria \| 1 C0032001 \| pituitary apoplexy \| 1 C0038522 \| subacute sclerosing panencephalitis \| 1 C0024530 \| malaria \| 1 C0338575 \| sagittal sinus thrombosis \| 1 C0017658 \| glomerulonephritis \| 1 C0014038 \| encephalitis \| 1 C0018991 \| hemiplegia \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:51) 2067 \| ERCC1 \| DISEASES 440 \| ASNS \| DISEASES 26517 \| TIMM13 \| DISEASES 10005 \| ACOT8 \| DISEASES 57617 \| VPS18 \| DISEASES 2218 \| FKTN \| DISEASES 6299 \| SALL1 \| DISEASES 10343 \| PKDREJ \| DISEASES 6737 \| TRIM21 \| DISEASES 51124 \| IER3IP1 \| DISEASES 6496 \| SIX3 \| DISEASES 6741 \| SSB \| DISEASES 23531 \| MMD \| DISEASES 10133 \| OPTN \| DISEASES 23523 \| CABIN1 \| DISEASES 23476 \| BRD4 \| DISEASES 2651 \| GCNT2 \| DISEASES 5286 \| PIK3C2A \| DISEASES 775 \| CACNA1C \| DISEASES 5428 \| POLG \| DISEASES 127829 \| ARL8A \| DISEASES 2041 \| EPHA1 \| DISEASES 3439 \| IFNA1 \| DISEASES 3176 \| HNMT \| DISEASES 64843 \| ISL2 \| DISEASES 1476 \| CSTB \| DISEASES 178 \| AGL \| DISEASES 4760 \| NEUROD1 \| DISEASES 9317 \| PTER \| DISEASES 2562 \| GABRB3 \| DISEASES 1632 \| ECI1 \| DISEASES 171558 \| PTCRA \| DISEASES 375611 \| SLC26A5 \| DISEASES 5340 \| PLG \| DISEASES 85440 \| DOCK7 \| DISEASES 29920 \| PYCR2 \| DISEASES 2547 \| XRCC6 \| DISEASES 4512 \| MT-CO1 \| DISEASES 4537 \| MT-ND3 \| DISEASES 2902 \| GRIN1 \| DISEASES 1678 \| TIMM8A \| DISEASES 8518 \| IKBKAP \| DISEASES 256297 \| PTF1A \| DISEASES 5621 \| PRNP \| DISEASES 3446 \| IFNA10 \| DISEASES 3030 \| HADHA \| DISEASES 83650 \| SLC35G5 \| DISEASES 23041 \| MON2 \| DISEASES 501 \| ALDH7A1 \| DISEASES 9742 \| IFT140 \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	(Waiting for update.)

Disease ID	1548
Disease	cortical blindness
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0000572 \| Visual loss \| 5 HP:0001297 \| Cerebral vascular events \| 2 HP:0012416 \| Hypercarbia \| 1 HP:0002301 \| Hemiplegia \| 1 HP:0002315 \| Headaches \| 1 HP:0002383 \| Encephalitis \| 1 HP:0002013 \| Emesis \| 1 HP:0006859 \| Posterior leukoencephalopathy \| 1 HP:0100601 \| Eclampsia \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0000505 \| Poor vision \| 1

Disease ID	1548
Disease	cortical blindness
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0234507 \| anosognosia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:12)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0155320	acetaminophen	D000082	103-90-2	blindness, cortical	MESH:D019575	marker/mechanism	8960081
C0155320	acetylcysteine	D000111	616-91-1	blindness, cortical	MESH:D019575	marker/mechanism	8960081
C0155320	bleomycin	D001761	11056-06-7	blindness, cortical	MESH:D019575	marker/mechanism	6085288
C0155320	bupivacaine	D002045	2180-92-9	blindness, cortical	MESH:D019575	marker/mechanism	20068456
C0155320	cyclosporine	D016572	59865-13-3	blindness, cortical	MESH:D019575	marker/mechanism	8832009
C0155320	cisplatin	D002945	15663-27-1	blindness, cortical	MESH:D019575	marker/mechanism	6085288
C0155320	gemcitabine	C056507	103882-84-4	blindness, cortical	MESH:D019575	marker/mechanism	17164233
C0155320	nitroprusside	D009599	15078-28-1	blindness, cortical	MESH:D019575	marker/mechanism	6650540
C0155320	tacrolimus	D016559	109581-93-3	blindness, cortical	MESH:D019575	marker/mechanism	10338054
C0155320	vinblastine	D014747	865-21-4	blindness, cortical	MESH:D019575	marker/mechanism	6085288
C0155320	vincristine	D014750	-	blindness, cortical	MESH:D019575	marker/mechanism	14515391
C0155320	vindesine	D014751	53643-48-4	blindness, cortical	MESH:D019575	marker/mechanism	2312856

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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