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Sneddon syndrome
Summary
- Synonym
-
- Idiopathic livedo reticularis with systemic involvement
- Definition
- An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11.
- Super Class
- artery disease
External Links
- Disease Ontology
- DOID:13096
- Mondo Disease Ontology
- MeSH
- UMLS
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001727 | Thromboembolic stroke |
| HP:0011276 | Vascular skin abnormality |
| HP:0002850 | Decreased circulating total IgM |
| HP:0001297 | Stroke |
| HP:0001075 | Atrophic scars |
| HP:0003745 | Sporadic |
| HP:0001888 | Lymphopenia |
| HP:0001342 | Cerebral hemorrhage |
| HP:0010628 | Facial palsy |
| HP:0001260 | Dysarthria |
