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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:0001268 | Mental deterioration |
| HP:0002170 | Intracranial hemorrhage |
| HP:0000822 | Hypertension |
| HP:0002381 | Aphasia |
| HP:0001337 | Tremor |
| HP:0000708 | Atypical behavior |
| HP:0002072 | Chorea |
| HP:0001123 | Visual field defect |
| HP:0002354 | Memory impairment |
| HP:0001270 | Motor delay |
