Sneddon Syndrome (SNDDS)

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OMIM 57 182410 Disease Ontology 12 DOID:13096 MeSH 44 D018860 Orphanet 59 ORPHA820 MESH via Orphanet 45 D018860

UMLS via Orphanet 74 C0282492 ICD10 via Orphanet 34 I77.8 MedGen 42 C0282492 SNOMED-CT via HPO 69 263681008 258211005 90708001 25786006 277843001 52448006 24184005 38341003 26825009 12184005 128613002 246545002 313307000 84757009 91175000 8011004 127377003 20022000 230690007 26544005 26079004 271700006 37796009 1386000 50582007 25064002 271789005 399090003 399153001 404640003 386807006 55533009 609225004 87486003 252157006 255314001 193093009 95666008 68109007 88032003 more UMLS 73 C0282492

NIH Rare Diseases : ⁵³ Sneddon syndrome is a rare, progressive condition that affects blood vessels. It is primarily characterized by livedo reticularis (net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include transient ischemic attacks (mini-strokes) and strokes; headache; dizziness; high blood pressure; and heart disease. Reduced blood flow to the brain may cause reduced intellectual ability, memory loss, personality changes, and/or other neurological symptoms. The cause of Sneddon syndrome is often unknown, but it is sometimes associated with an autoimmune disease. Most cases are sporadic but some familial cases with autosomal dominant inheritance have been reported. Some researchers separate Sneddon syndrome into two different types depending on whether an underlying cause has been identified (primary versus idiopathic), while others suggest a classification based on whether certain symptoms of autoimmune disease are present or not (aPL-positive versus aPL negative). Treatment usually involves anticoagulation (blood-thinning) with warfarin, and/or the use of other medications.

MalaCards based summary : Sneddon Syndrome, also known as idiopathic livedo reticularis with systemic involvement, is related to marantic endocarditis and dysfibrinogenemia, and has symptoms including seizures, tremor and headache. An important gene associated with Sneddon Syndrome is ADA2 (Adenosine Deaminase 2), and among its related pathways/superpathways are Complement and coagulation cascades and Gamma carboxylation, hypusine formation and arylsulfatase activation. Affiliated tissues include skin, brain and heart, and related phenotypes are hypertension and seizures

OMIM : ⁵⁷ Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987). (182410)

UniProtKB/Swiss-Prot : ⁷⁵ Sneddon syndrome: A systemic non-inflammatory thrombotic vasculopathy characterized by the association of livedo racemosa, and in some cases livedo reticularis, with cerebrovascular disease. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting the legs, the arms, the buttocks and the trunk; livedo reticularis is limited to the extremities and is visible only in the cold. Cerebrovascular features include recurrent transient ischemic attacks, infarcts, and rarely spinal strokes or intracranial or subarachnoid hemorrhages. Headache and vertigo may precede the onset of livedo racemosa and cerebrovascular manifestations by several years. Rare neurologic symptoms include seizures, chorea, or myelopathies.

Wikipedia : ⁷⁶ Sneddon''s syndrome is a form of arteriopathy characterized by several symptoms,... more...

Clinical features from OMIM:

182410

Search Clinical Trials , NIH Clinical Center for Sneddon Syndrome

Search GEO for disease gene expression data for Sneddon Syndrome.