Sneddon Syndrome (SNDNS)

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Disease Ontology 12 DOID:13096 OMIM® 57 182410 MeSH 44 D018860 SNOMED-CT 67 716745004 MESH via Orphanet 45 D018860 ICD10 via Orphanet 33 I77.8

UMLS via Orphanet 71 C0282492 Orphanet 58 ORPHA820 MedGen 41 C0282492 SNOMED-CT via HPO 68 12184005 127377003 128613002 1386000 193093009 20022000 230690007 24184005 246545002 25064002 252157006 255314001 25786006 258211005 26079004 26544005 271700006 271789005 277843001 313307000 37796009 38341003 386807006 399090003 399153001 404640003 50582007 52448006 55533009 609225004 68109007 8011004 84757009 87486003 88032003 90708001 91175000 95666008 more EFO 17 EFO_1001186 UMLS 70 C0282492

GARD : ²⁰ 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 antiphospholipid syndrome and pregnancy loss, recurrent 1, 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 Metabolism of proteins and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include skin, cortex and smooth muscle, and related phenotypes are behavioral abnormality and vertigo

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : ⁷² Sneddon syndrome: An autosomal recessive, 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 : ⁷³ Sneddon's syndrome is a form of arteriopathy characterized by several symptoms,... more...

Clinical features from OMIM®:

182410 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Sneddon Syndrome

Search GEO for disease gene expression data for Sneddon Syndrome.