ORPHA:59298
Schilder disease
Synonyms: Myelinoclastic diffuse sclerosis
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
Schilder's disease is a progressive demyelinating disorder of the central nervous system.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schilder disease | Myelinoclastic diffuse sclerosis |
| fr | Maladie de Schilder | Sclérose myélinoclastique diffuse |
| de | Schilder-Krankheit | Myelinoklastische diffuse Sklerose |
| es | Enfermedad de Schilder | |
| it | Malattia di Schilder | Sclerosi mielinoclastica diffusa |
| nl | Ziekte van Schilder | Myelinoclastische diffuse sclerose |
| pt | Doença de Schilder | Esclerose mielinoclástica difusa |
| pl | Choroba Schildera | Mielinoklastyczne rozlane stwardnienie mózgu |
| cs | Schilderova choroba | Myelinoklastická difuzní skleróza · Schilderova nemoc |
| uk | Хвороба Шильдера | Мієлінокластичний дифузний склероз |
| zh | Schilder病 | 脱髓鞘弥漫性硬化 |
| tr | Schilder hastalığı | Miyelinoklastik yaygın skleroz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272100 | E | validated | |
| ICD-10 | G37.0 | E | specific | validated |
| ICD-11 | 8A40.Y | NTBT | index | validated |
| MONDO | 0010085 | E | validated | |
| MeSH | D002549 | E | validated | |
| UMLS | C0007795 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:228145Multiple sclerosis variant
rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
19 annotations · validated 2021-09-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007305 | CNS demyelination | |
| HP:0002315 | Headache | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0001347 | Hyperreflexia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0002344 | Progressive neurologic deterioration | |
| Occasional (29-5%) | ||
| HP:0011448 | Ankle clonus | |
| HP:0001251 | Ataxia | |
| HP:0012229 | CSF pleocytosis | |
| HP:0000651 | Diplopia | |
| HP:0001298 | Encephalopathy | |
| HP:0000565 | Esotropia | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0001324 | Muscle weakness | |
| HP:0002018 | Nausea | |
| HP:0002172 | Postural instability | |
| HP:0001250 | Seizure | |
| HP:0002321 | Vertigo | |
| HP:0002013 | Vomiting | |
Annotation source: 30212769[PMID]_30819213[PMID]_28427702[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/59298
- This record as JSON: /data/d/59298.json