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
Displaying 1 entry
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P15289 Arylsulfatase A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024