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MCID: SND002
MIFTS: 48
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Sneddon Syndrome
Categories:
Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Bone diseases, Skin diseases
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MalaCards integrated aliases for Sneddon Syndrome:
Characteristics:Orphanet epidemiological data:59
sneddon syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder incidence of 4 per million per year secondary features include arterial hypertension and renal involvement women are more often affected onset in young adulthood one family with confirmed cecr1 mutation has been reported (last curated august 2014) HPO:32
sneddon syndrome:
Onset and clinical course progressive Inheritance autosomal recessive inheritance autosomal dominant inheritance sporadic Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Cardiovascular diseases Bone diseases Skin diseases
ICD10:
34
Orphanet: 59
Rare neurological diseases
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare skin diseases
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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. 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 headache, hemiplegia and seizures. An important gene associated with Sneddon Syndrome is ADA2 (Adenosine Deaminase 2), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include skin, heart and brain, and related phenotypes are nephropathy and behavioral abnormality 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... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:182410Human phenotypes related to Sneddon Syndrome:59 32 (show all 29)
UMLS symptoms related to Sneddon Syndrome:headache, hemiplegia, seizures, tremor |
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Cochrane evidence based reviews: sneddon syndrome |
MalaCards organs/tissues related to Sneddon Syndrome:41
Skin,
Heart,
Brain,
Bone,
Smooth Muscle
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Articles related to Sneddon Syndrome:(show top 50) (show all 51)
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Genes related to Sneddon Syndrome (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Sneddon Syndrome:75
ClinVar genetic disease variations for Sneddon Syndrome:6
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Search
GEO
for disease gene expression data for Sneddon Syndrome.
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Cellular components related to Sneddon Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Sneddon Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Sneddon Syndrome according to GeneCards Suite gene sharing:
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