Superficial siderosis
disease diseaseOn this page
Also known as hemosiderosis of the central nervous systemsuperficial hemosiderosis of the central nervous systemsuperficial hemosiderosis of the CNSsuperficial siderosis of the central nervous systemsuperficial siderosis of the CNS
Summary
Superficial siderosis (MONDO:0016594) is a disease and 3 clinical trials. Top therapeutic interventions include inosine. A subtype of neurodegenerative disease — 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): 49
- Clinical trials: 3
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 300 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
49 HPO clinical features (Orphanet curated; top 49 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001251 | Ataxia | Very frequent (80-99%) |
| HP:0008619 | Bilateral sensorineural hearing impairment | Very frequent (80-99%) |
| HP:0009591 | Abnormality of the vestibulocochlear nerve | Very frequent (80-99%) |
| HP:0001272 | Cerebellar atrophy | Frequent (30-79%) |
| HP:0001273 | Abnormal corpus callosum morphology | Frequent (30-79%) |
| HP:0001892 | Abnormal bleeding | Frequent (30-79%) |
| HP:0007240 | Progressive gait ataxia | Frequent (30-79%) |
| HP:0007340 | Lower limb muscle weakness | Frequent (30-79%) |
| HP:0011029 | Internal hemorrhage | Frequent (30-79%) |
| HP:0100543 | Cognitive impairment | Frequent (30-79%) |
| HP:0000009 | Functional abnormality of the bladder | Occasional (5-29%) |
| HP:0000458 | Anosmia | Occasional (5-29%) |
| HP:0000726 | Dementia | Occasional (5-29%) |
| HP:0001260 | Dysarthria | Occasional (5-29%) |
| HP:0001310 | Dysmetria | Occasional (5-29%) |
| HP:0001350 | Slurred speech | Occasional (5-29%) |
| HP:0001934 | Persistent bleeding after trauma | Occasional (5-29%) |
| HP:0002013 | Vomiting | Occasional (5-29%) |
| HP:0002018 | Nausea | Occasional (5-29%) |
| HP:0002070 | Limb ataxia | Occasional (5-29%) |
| HP:0002075 | Dysdiadochokinesis | Occasional (5-29%) |
| HP:0002138 | Subarachnoid hemorrhage | Occasional (5-29%) |
| HP:0002143 | Abnormality of the spinal cord | Occasional (5-29%) |
| HP:0002315 | Headache | Occasional (5-29%) |
| HP:0002317 | Unsteady gait | Occasional (5-29%) |
| HP:0002321 | Vertigo | Occasional (5-29%) |
| HP:0002334 | Abnormality of the cerebellar vermis | Occasional (5-29%) |
| HP:0002354 | Memory impairment | Occasional (5-29%) |
| HP:0002359 | Frequent falls | Occasional (5-29%) |
| HP:0002921 | Abnormality of the cerebrospinal fluid | Occasional (5-29%) |
| HP:0002922 | Increased CSF protein concentration | Occasional (5-29%) |
| HP:0003401 | Paresthesia | Occasional (5-29%) |
| HP:0003418 | Back pain | Occasional (5-29%) |
| HP:0003487 | Babinski sign | Occasional (5-29%) |
| HP:0003698 | Difficulty standing | Occasional (5-29%) |
| HP:0006827 | Atrophy of the spinal cord | Occasional (5-29%) |
| HP:0007256 | Abnormal pyramidal sign | Occasional (5-29%) |
| HP:0007328 | Impaired pain sensation | Occasional (5-29%) |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | Occasional (5-29%) |
| HP:0009916 | Anisocoria | Occasional (5-29%) |
| HP:0010633 | Partial anosmia | Occasional (5-29%) |
| HP:0010829 | Impaired temperature sensition | Occasional (5-29%) |
| HP:0032398 | Dysgyria | Occasional (5-29%) |
| HP:0100006 | Neoplasm of the central nervous system | Occasional (5-29%) |
| HP:0100026 | Arteriovenous malformation | Occasional (5-29%) |
| HP:0100952 | Enlarged sylvian cistern | Occasional (5-29%) |
| HP:0001250 | Seizure | Very rare (<1-4%) |
| HP:0030321 | Abnormal vertebral artery morphology | Very rare (<1-4%) |
| HP:0045052 | Abnormality of the brachial nerve plexus | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | superficial siderosis |
| Mondo ID | MONDO:0016594 |
| Orphanet | 247245 |
| UMLS | C2938918 |
| MedGen | 1371500 |
| GARD | 0009484 |
| Is cancer (heuristic) | no |
Also known as: hemosiderosis of the central nervous system · superficial hemosiderosis of the central nervous system · superficial hemosiderosis of the CNS · superficial siderosis of the central nervous system · superficial siderosis of the CNS
Disease family
This is a subtype of neurodegenerative disease. 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 › neurodegenerative disease › superficial siderosis
Related subtypes (21): synucleinopathy, eyelid degenerative disorder, senile degeneration of brain, olivopontocerebellar atrophy, neuroaxonal dystrophy, demyelinating disease, choroidal sclerosis, tauopathy, secondary Parkinson disease, infantile bilateral striatal necrosis, Marchiafava-Bignami disease, primary progressive apraxia of speech, human prion disease, primary progressive freezing gait, primary progressive aphasia, motor neuron disorder, brachial amyotrophic diplegia, cerebellar degeneration, inherited neurodegenerative disorder, cerebral degeneration, hypertrophic olivary degeneration
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: 3.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 3 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04890808 | Not specified | NOT_YET_RECRUITING | Therapeutic Antioxidant Supplementation |
| NCT07098650 | Not specified | RECRUITING | Haemdall: Developing a Quantitative MRI Biomarker of Infratentorial Superficial Siderosis of the Central Nervous System |
| NCT01284127 | Not specified | COMPLETED | Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| INOSINE | 3 | 1 |
| CHEMBL462399 | 0 | 1 |
Related Atlas pages
- Drugs: Inosine