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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:0002301 | Hemiplegia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002315 | Headache |
| HP:0003676 | Progressive |
| HP:0001647 | Bicuspid aortic valve |
| HP:0006937 | Impaired distal tactile sensation |
| HP:0003593 | Infantile onset |
| HP:0002140 | Ischemic stroke |
| HP:0100545 | Arterial stenosis |
| HP:0100576 | Amaurosis fugax |
