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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:0000112 | Nephropathy |
| HP:0002076 | Migraine |
| HP:0001250 | Seizure |
| HP:0002376 | Developmental regression |
| HP:0000726 | Dementia |
| HP:0001324 | Muscle weakness |
| HP:0003613 | Antiphospholipid antibody positivity |
| HP:0001269 | Hemiparesis |
| HP:0002321 | Vertigo |
| HP:0000965 | Cutis marmorata |
