Schilder disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SCHILDER DISEASE Schilder' s disease Myelinoclastic diffuse sclerosis |
| Number of Symptoms | 4 |
| OrphanetNr: | 59298 |
| OMIM Id: |
272100
|
| ICD-10: |
G37.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
49692006 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple sclerosis variant
-Rare neurologic disease |
Symptom Information:
|
|
(HPO:0100704) | Cortical visual impairment | 28 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
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(OMIM) | Sudanophilic cerebral sclerosis | 1 / 7739 | ||||
|
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(HPO:0006918) | Diffuse cerebral sclerosis | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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