Mucopolysaccharidosis type 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MPS1 Alpha-L-iduronidase deficiency |
| Number of Symptoms | 0 |
| OrphanetNr: | 579 |
| OMIM Id: |
607014
607015 607016 |
| ICD-10: |
E76.0 |
| UMLs: |
C0023786 C2713321 |
| MeSH: |
D008059 |
| MedDRA: |
10056886 |
| Snomed: |
75610003 |
Prevalence, inheritance and age of onset:
| Prevalence: | 1 |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Eyebrow hypertrophy
-Rare eye disease -Rare genetic disease Lysosomal storage disease with skeletal involvement -Rare bone disease -Rare genetic disease Metabolic disease with corneal opacity -Rare eye disease -Rare genetic disease Mucopolysaccharidosis -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Neurometabolic disease -Rare genetic disease -Rare neurologic disease |
Comment:
| This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. Mucopolysaccharidosis type 1 comprises the following Phenodis entries: Phenodis:7364 Hurler syndrome Orphanet:93473; Phenodis:7365 Scheie syndrome Orphanet:93474; Phenodis:7366 Hurler-Scheie syndrome Orphanet:93476; |
Symptom Information:
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|