Isolated optic neuritis
disease diseaseOn this page
Also known as ION
Summary
Isolated optic neuritis (MONDO:0044688) is a disease. A subtype of autoimmune/inflammatory optic neuropathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Phenotypes (HPO): 12
Clinical features
Signs & symptoms
Clinical features (HPO)
12 HPO clinical features (Orphanet curated; top 12 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001123 | Visual field defect | Very frequent (80-99%) |
| HP:0007641 | Dyschromatopsia | Very frequent (80-99%) |
| HP:0030857 | Eye movement-induced pain | Very frequent (80-99%) |
| HP:0032036 | Reduced contrast sensitivity | Very frequent (80-99%) |
| HP:0200026 | Ocular pain | Very frequent (80-99%) |
| HP:0000572 | Visual loss | Frequent (30-79%) |
| HP:0000603 | Central scotoma | Frequent (30-79%) |
| HP:0001085 | Papilledema | Frequent (30-79%) |
| HP:0002315 | Headache | Frequent (30-79%) |
| HP:0200057 | Marcus Gunn pupil | Frequent (30-79%) |
| HP:0030786 | Photopsia | Occasional (5-29%) |
| HP:0033342 | Anti-aquaporin 4 antibody positivity | Excluded (0%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | isolated optic neuritis |
| Mondo ID | MONDO:0044688 |
| Orphanet | 499096 |
| UMLS | C5848152 |
| MedGen | 1864429 |
| GARD | 0022039 |
| Is cancer (heuristic) | no |
Also known as: ION · ion
Disease family
An umbrella term covering 4 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › autoimmune/inflammatory optic neuropathy › isolated optic neuritis
Related subtypes (4): neuromyelitis optica, chronic relapsing inflammatory optic neuropathy, recurrent idiopathic neuroretinitis, optic perineuritis
Subtypes (4): isolated optic neuritis without anti-MOG antibodies, isolated optic neuritis with anti-MOG antibodies, single isolated optic neuritis, relapsing isolated optic neuritis
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.