Superficial siderosis
Synonyms: Hemosiderosis of the central nervous system · Superficial hemosiderosis of the CNS · Superficial hemosiderosis of the central nervous system · Superficial siderosis of the CNS · Superficial siderosis of the central nervous system
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Superficial siderosis | Hemosiderosis of the central nervous system · Superficial hemosiderosis of the CNS · Superficial hemosiderosis of the central nervous system · Superficial siderosis of the CNS · Superficial siderosis of the central nervous system |
| fr | Sidérose superficielle | Hémosidérose du SNC · Hémosidérose du névraxe · Hémosidérose du système nerveux central · Hémosidérose marginale du névraxe · Hémosidérose superficielle du névraxe · Sidérose superficielle du système nerveux central |
| de | Superfizielle Siderose | Superfizielle Hämosiderose des Zentralnervensystems · Superfizielle Siderose des ZNS · Superfizielle Siderose des Zentralnervensystems · Hämosiderose des Zentralnervensystems · Superfizielle Hämosiderose des ZNS |
| es | Siderosis superficial | Hemosiderosis del sistema nervioso central · Hemosiderosis superficial del SNC · Hemosiderosis superficial del sistema nervioso central · Siderosis superficial del SNC · Siderosis superficial del sistema nervioso central |
| it | Siderosi superficiale | |
| nl | Oppervlakkige siderose | Hemosiderose van centraal zenuwstelsel · Oppervlakkige hemosiderose van CZS · Oppervlakkige hemosiderose van centraal zenuwstelsel · Oppervlakkige siderose van CZS · Oppervlakkige siderose van centraal zenuwstelsel |
| pt | Siderose superficial | |
| pl | Sideroza powierzchowna | = en |
| cs | Superficiální sideróza | = en |
| uk | Поверхневий сидероз | Гемосидероз центральної нервової системи · Поверхневий гемосидероз центральної нервової системи · Поверхневий гемосидероз ЦНС · Поверхневий сидероз центральної нервової системи · Поверхневий сидероз ЦНС |
| zh | 浅表肺沉着病 | 中枢神经系统浅表含铁血黄素沉着症 |
| tr | Yüzeysel sideroz | CNS'nin yüzeysel siderozu · CNS'nin yüzeysel hemosiderozu · Merkezi sinir sisteminin hemosiderozu · Merkezi sinir sisteminin yüzeysel siderozu · Merkezi sinir sisteminin yüzeysel hemosiderozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | I69.0 | NTBT | attributed | validated |
| MONDO | 0016594 | E | validated | |
| UMLS | C2938918 | E | validated | |
| GARD | 9484 | E | validated | |
| MedDRA | 10070564 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:247242Acquired ataxia
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 20083040[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
49 annotations · validated 2021-03-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009591 | Abnormality of the vestibulocochlear nerve | |
| HP:0001251 | Ataxia | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0011029 | Internal hemorrhage | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0007240 | Progressive gait ataxia | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002334 | Abnormality of the cerebellar vermis | |
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0002143 | Abnormality of the spinal cord | |
| HP:0009916 | Anisocoria | |
| HP:0000458 | Anosmia | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0003487 | Babinski sign | |
| HP:0003418 | Back pain | |
| HP:0000726 | Dementia | |
| HP:0003698 | Difficulty standing | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0032398 | Dysgyria | |
| HP:0001310 | Dysmetria | |
| HP:0100952 | Enlarged sylvian cistern | |
| HP:0002359 | Frequent falls | |
| HP:0000009 | Functional abnormality of the bladder | |
| HP:0002315 | Headache | |
| HP:0007328 | Impaired pain sensation | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0002070 | Limb ataxia | |
| HP:0002354 | Memory impairment | |
| HP:0002018 | Nausea | |
| HP:0100006 | Neoplasm of the central nervous system | |
| HP:0003401 | Paresthesia | |
| HP:0010633 | Partial anosmia | |
| HP:0001934 | Persistent bleeding after trauma | |
| HP:0001350 | Slurred speech | |
| HP:0002138 | Subarachnoid hemorrhage | |
| HP:0002317 | Unsteady gait | |
| HP:0002321 | Vertigo | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0030321 | Abnormal vertebral artery morphology | |
| HP:0045052 | Abnormality of the brachial nerve plexus | |
| HP:0001250 | Seizure | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 29160113[PMID]_21822983[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247245
- This record as JSON: /data/d/247245.json