General Information of Disease (ID: DIS5FJHE)

Disease Name Sneddon syndrome
Synonyms
livedo racemosa and cerebrovascular accidents; Sneddon's syndrome; cerebro-vascular lesions and livedo reticularis; livedo reticularis and cerebrovascular accidents; livedo racemosa-cerebrovascular accident syndrome; idiopathic livedo reticularis with systemic involvement; livedo reticularis-cerebrovascular accident syndrome; Ehrmann-Sneddon syndrome; Sneddon syndrome
Definition Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.
Disease Hierarchy
DISRVYPK: Deficiency of adenosine deaminase 2
DIS2TMQU: Skin vascular disease
DISLG4XS: Arterial disorder
DISSCALK: Hereditary skin disorder
DIS5FJHE: Sneddon syndrome
Disease Identifiers
MONDO ID
MONDO_0008436
MESH ID
D018860
UMLS CUI
C0282492
OMIM ID
182410
MedGen ID
76449
Orphanet ID
820
SNOMED CT ID
238776001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADA2 OTGCV24S Moderate Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.