Schilder disease
diseaseOn this page
Also known as myelinoclastic diffuse sclerosisSchilder's disease
Summary
Schilder disease (MONDO:0010085) is a disease. A subtype of demyelinating disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide)
- Phenotypes (HPO): 19
Clinical features
Signs & symptoms
Clinical features (HPO)
19 HPO clinical features (Orphanet curated; top 19 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001347 | Hyperreflexia | Frequent (30-79%) |
| HP:0002315 | Headache | Frequent (30-79%) |
| HP:0002344 | Progressive neurologic deterioration | Frequent (30-79%) |
| HP:0002922 | Increased CSF protein concentration | Frequent (30-79%) |
| HP:0007305 | CNS demyelination | Frequent (30-79%) |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | Frequent (30-79%) |
| HP:0000565 | Esotropia | Occasional (5-29%) |
| HP:0000651 | Diplopia | Occasional (5-29%) |
| HP:0001250 | Seizure | Occasional (5-29%) |
| HP:0001251 | Ataxia | Occasional (5-29%) |
| HP:0001298 | Encephalopathy | Occasional (5-29%) |
| HP:0001324 | Muscle weakness | Occasional (5-29%) |
| HP:0002013 | Vomiting | Occasional (5-29%) |
| HP:0002018 | Nausea | Occasional (5-29%) |
| HP:0002172 | Postural instability | Occasional (5-29%) |
| HP:0002321 | Vertigo | Occasional (5-29%) |
| HP:0002516 | Increased intracranial pressure | Occasional (5-29%) |
| HP:0011448 | Ankle clonus | Occasional (5-29%) |
| HP:0012229 | CSF pleocytosis | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Schilder disease |
| Mondo ID | MONDO:0010085 |
| OMIM | 272100 |
| Orphanet | 59298 |
| ICD-10-CM | G37.0 |
| SNOMED CT | 49692006 |
| UMLS | C0007795 |
| MedGen | 3324 |
| GARD | 0016661 |
| Is cancer (heuristic) | no |
Also known as: myelinoclastic diffuse sclerosis · Schilder disease · Schilder’s disease
Disease family
This is a subtype of demyelinating 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 › demyelinating disease › Schilder disease
Related subtypes (7): demyelinating polyneuropathy, central pontine myelinolysis, polyradiculoneuropathy, Balo concentric sclerosis, acute disseminated encephalomyelitis, demyelinating disease of central nervous system, boylan dew greco syndrome
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.