Visual cortex disorder
diseaseOn this page
Also known as disease of visual cortexdisease or disorder of visual cortexdisorder of visual cortexvisual cortex diseasevisual cortex disease or disorder
Summary
Visual cortex disorder (MONDO:0003584) is a disease. A subtype of visual pathway disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 41
Clinical features
Signs & symptoms
Clinical features (HPO)
41 HPO clinical features (Orphanet curated; top 41 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002500 | Abnormal cerebral white matter morphology | Frequent (30-79%) |
| HP:0100021 | Cerebral palsy | Frequent (30-79%) |
| HP:0010794 | Impaired visuospatial constructive cognition | Frequent (30-79%) |
| HP:0001249 | Intellectual disability | Frequent (30-79%) |
| HP:0001622 | Premature birth | Frequent (30-79%) |
| HP:0410263 | Brain imaging abnormality | Frequent (30-79%) |
| HP:0002060 | Abnormal cerebral morphology | Occasional (5-29%) |
| HP:0000238 | Hydrocephalus | Occasional (5-29%) |
| HP:0011450 | Unusual CNS infection | Occasional (5-29%) |
| HP:0001250 | Seizure | Occasional (5-29%) |
| HP:0025315 | Exacerbated by head trauma | Occasional (5-29%) |
| HP:0002180 | Neurodegeneration | Occasional (5-29%) |
| HP:0000252 | Microcephaly | Occasional (5-29%) |
| HP:0007009 | Central nervous system degeneration | Occasional (5-29%) |
| HP:0000486 | Strabismus | Occasional (5-29%) |
| HP:0000539 | Abnormality of refraction | Occasional (5-29%) |
| HP:0000639 | Nystagmus | Occasional (5-29%) |
| HP:0012796 | Increased cup-to-disc ratio | Occasional (5-29%) |
| HP:0000543 | Optic disc pallor | Occasional (5-29%) |
| HP:0001141 | Severely reduced visual acuity | Occasional (5-29%) |
| HP:0025405 | Visual fixation instability | Occasional (5-29%) |
| HP:0007772 | Impaired smooth pursuit | Occasional (5-29%) |
| HP:0001123 | Visual field defect | Occasional (5-29%) |
| HP:0000736 | Short attention span | Occasional (5-29%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Occasional (5-29%) |
| HP:0000729 | Autistic behavior | Occasional (5-29%) |
| HP:0002312 | Clumsiness | Occasional (5-29%) |
| HP:0000496 | Abnormality of eye movement | Occasional (5-29%) |
| HP:0002140 | Ischemic stroke | Occasional (5-29%) |
| HP:0001998 | Neonatal hypoglycemia | Occasional (5-29%) |
| HP:0002170 | Intracranial hemorrhage | Occasional (5-29%) |
| HP:0032046 | Focal cortical dysplasia | Occasional (5-29%) |
| HP:0001287 | Meningitis | Occasional (5-29%) |
| HP:0002383 | Infectious encephalitis | Occasional (5-29%) |
| HP:0012443 | Abnormality of brain morphology | Occasional (5-29%) |
| HP:0030800 | Abnormal visual accommodation | Occasional (5-29%) |
| HP:0500049 | Retinopathy of prematurity | Occasional (5-29%) |
| HP:0000609 | Optic nerve hypoplasia | Occasional (5-29%) |
| HP:0000648 | Optic atrophy | Occasional (5-29%) |
| HP:0000641 | Dysmetric saccades | Occasional (5-29%) |
| HP:0000657 | Oculomotor apraxia | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | visual cortex disorder |
| Mondo ID | MONDO:0003584 |
| Orphanet | 447788 |
| DOID | DOID:5691 |
| ICD-10-CM | H47.6 |
| NCIT | C35275 |
| SNOMED CT | 128329001 |
| UMLS | C0234398 |
| MedGen | 66699 |
| GARD | 0027642 |
| Anatomy (UBERON) | UBERON:0000411 |
| Is cancer (heuristic) | no |
Also known as: disease of visual cortex · disease or disorder of visual cortex · disorder of visual cortex · visual cortex disease · visual cortex disease or disorder · visual cortex disorder
Disease family
This is a subtype of visual pathway disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › visual pathway disorder › visual cortex disorder
Related subtypes (4): retinal nerve fiber layer disorder, coloboma of optic nerve, optic pathway glioma, optic tract meningioma
Subtypes (2): cortical blindness, visual epilepsy
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.