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
Disease Ontology
DOID:13096
Mondo Disease Ontology
MeSH
UMLS
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
51816 ADA2 adenosine deaminase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
373884 ada2a adenosine deaminase 2a
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
779128 ada2.L adenosine deaminase 2 L homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying entries 31 - 40 of 40 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
51816 ADA2 adenosine deaminase 2

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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: December 9, 2024