SNDDS
MCID: SND002
MIFTS: 44

Sneddon Syndrome (SNDDS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Bone diseases, Skin diseases

Aliases & Classifications for Sneddon Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Sneddon Syndrome:

Name: Sneddon Syndrome 52 11 48 54 70 50 39 13 68
Idiopathic Livedo Reticularis with Systemic Involvement 11 27
Livedo Reticularis-Cerebrovascular Accident Syndrome 48 54
Livedo Racemosa-Cerebrovascular Accident Syndrome 48 54
Livedo Reticularis and Cerebrovascular Accidents 48 70
 
Ehrmann-Sneddon Syndrome 48 54
Cerebro-Vascular Lesions and Livedo Reticularis 48
Livedo Racemosa and Cerebrovascular Accidents 48
Sneddon's Syndrome 48
Sndds 70

Characteristics:

Orphanet epidemiological data:

54
sneddon syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult

HPO:

64
sneddon syndrome:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance, sporadic
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM52 182410
Disease Ontology11 DOID:13096
MeSH39 D018860
Orphanet54 ORPHA820
SNOMED-CT62 238776001
MESH via Orphanet40 D018860
UMLS via Orphanet69 C0282492
ICD10 via Orphanet31 I77.8
MedGen37 C0282492

Summaries for Sneddon Syndrome

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NIH Rare Diseases:48 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. last updated: 11/15/2016

MalaCards based summary: Sneddon Syndrome, also known as idiopathic livedo reticularis with systemic involvement, is related to central retinal artery occlusion and adenosine deaminase 2 deficiency, and has symptoms including headache, headache and hemiplegia. An important gene associated with Sneddon Syndrome is ADA2 (Adenosine Deaminase 2), and among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Complement and coagulation cascades. Affiliated tissues include skin, heart and brain.

OMIM:52 Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade... (182410) more...

UniProtKB/Swiss-Prot:70 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.

Related Diseases for Sneddon Syndrome

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Diseases related to Sneddon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1central retinal artery occlusion29.1APOH, F2, SERPINC1
2adenosine deaminase 2 deficiency11.6
3hypertrichosis10.1APOH, SERPINC1
4esotropia10.1ADA2, APOH
5neuronopathy, distal hereditary motor, type iid10.1APOH, SERPINC1
6czech dysplasia10.1APOH, SERPINC1
7spinal multifocal clear cell meningioma10.0APOH, SERPINC1
8miller-dieker lissencephaly syndrome10.0F2, SERPINC1
9influenza10.0F2, SERPINC1
10freiberg's disease10.0F2, SERPINC1
11pancreatic ductal carcinoma10.0F2, SERPINC1
12mixed epithelial tumor of ovary10.0F2, SERPINC1
13chorioretinal scar10.0F2, SERPINC1
14exophthalmic ophthalmoplegia10.0APOH, SERPINC1
15mixed hepatoblastoma10.0F2, SERPINC1
16peanut allergy10.0F2, SERPINC1
17dmd-related dilated cardiomyopathy10.0F2, SERPINC1
18midline cystocele10.0F2, SERPINC1
19schwannoma of jugular foramen10.0F2, SERPINC1
20neuroaxonal dystrophy10.0F2, SERPINC1
21cerebellar astrocytoma10.0F2, SERPINC1
22periosteal chondrosarcoma10.0F2, SERPINC1
23angelucci's syndrome10.0F2, SERPINC1
24ductal carcinoma in situ10.0F2, SERPINC1
25cerebritis10.0
26essential thrombocythemia10.0F2, SERPINC1
27ovarian papillary cystadenoma10.0F2, SERPINC1
28epstein-barr virus hepatitis10.0F2, SERPINC1
29eagle syndrome10.0F2, SERPINC1
30hereditary alpha tryptasemia syndrome10.0F2, SERPINC1
31lubinsky syndrome10.0APOH, F2
32supraumbilical midabdominal raphe and facial cavernous hemangiomas10.0APOH, F2
33vaginal discharge10.0F2, SERPINC1
34scapuloperoneal myopathy, x-linked dominant10.0F2, SERPINC1
35landau-kleffner syndrome10.0APOH, F2
36hendra virus infection10.0APOH, F2
37alpha-2-plasmin inhibitor deficiency10.0F2, SERPINC1
38prostatitis10.0APOH, F2
39capillary hemangioma10.0F2, SERPINC1
40alcoholic gastritis10.0F2, SERPINC1
41hennekam lymphangiectasia-lymphedema syndrome 210.0F2, SERPINC1
42glutathionuria10.0APOH, F2
43hemolytic-uremic syndrome10.0F2, SERPINC1
44oguchi disease-29.9F2, SERPINC1
45retinitis9.9
46aids dementia complex9.9F2, SERPINC1
47autoimmune disease of central nervous system9.9APOH, F2
48pancreas adenocarcinoma9.9F2, SERPINC1
49welander distal myopathy9.9APOH, SERPINC1
50brill-zinsser disease9.9F2, SERPINC1

Graphical network of the top 20 diseases related to Sneddon Syndrome:



Diseases related to sneddon syndrome

Symptoms & Phenotypes for Sneddon Syndrome

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Symptoms by clinical synopsis from OMIM:

182410

Clinical features from OMIM:

182410

Human phenotypes related to Sneddon Syndrome:

 54 64 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy64 54 Occasional (29-5%) HP:0000112
2 behavioral abnormality64 54 Very frequent (99-80%) HP:0000708
3 dementia64 54 Frequent (79-30%) HP:0000726
4 hypertension64 54 Frequent (79-30%) HP:0000822
5 cutis marmorata64 54 Very frequent (99-80%) HP:0000965
6 visual field defect64 54 Frequent (79-30%) HP:0001123
7 seizures64 54 Occasional (29-5%) HP:0001250
8 mental deterioration64 54 Frequent (79-30%) HP:0001268
9 hemiparesis64 54 Frequent (79-30%) HP:0001269
10 motor delay64 54 Frequent (79-30%) HP:0001270
11 muscle weakness64 54 Frequent (79-30%) HP:0001324
12 tremor64 54 Occasional (29-5%) HP:0001337
13 thromboembolic stroke64 54 Very frequent (99-80%) HP:0001727
14 chorea64 54 Occasional (29-5%) HP:0002072
15 migraine64 54 Very frequent (99-80%) HP:0002076
16 intracranial hemorrhage64 54 Occasional (29-5%) HP:0002170
17 vertigo64 54 Very frequent (99-80%) HP:0002321
18 memory impairment64 54 Very frequent (99-80%) HP:0002354
19 developmental regression64 54 Frequent (79-30%) HP:0002376
20 aphasia64 54 Occasional (29-5%) HP:0002381
21 antiphospholipid antibody positivity64 54 Occasional (29-5%) HP:0003613
22 vascular skin abnormality54 Very frequent (99-80%)
23 arterial stenosis64 54 Very frequent (99-80%) HP:0100545
24 amaurosis fugax64 54 Frequent (79-30%) HP:0100576
25 dysarthria64 HP:0001260
26 stroke64 HP:0001297
27 hemiplegia64 HP:0002301
28 headache64 HP:0002315
29 facial palsy64 HP:0010628

UMLS symptoms related to Sneddon Syndrome:


headache, hemiplegia, seizures, tremor

Drugs & Therapeutics for Sneddon Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin DiseasesRecruitingNCT01952275

Search NIH Clinical Center for Sneddon Syndrome


Cochrane evidence based reviews: sneddon syndrome

Genetic Tests for Sneddon Syndrome

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Genetic tests related to Sneddon Syndrome:

id Genetic test Affiliating Genes
1 Idiopathic Livedo Reticularis with Systemic Involvement27

Anatomical Context for Sneddon Syndrome

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MalaCards organs/tissues related to Sneddon Syndrome:

36
Skin, Heart, Brain, Bone, Smooth muscle

Publications for Sneddon Syndrome

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Articles related to Sneddon Syndrome:

(show all 47)
idTitleAuthorsYear
1
The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review. (27084221)
2016
2
Treatment of Skin Ulcers Secondary to Sneddon Syndrome With Alprostadil (Prostaglandin E1). (26982963)
2016
3
Psychosis with suicide attempt in Sneddon syndrome. (27891710)
2016
4
Strokes in Sneddon syndrome without antiphospholipid antibodies. (25628239)
2015
5
Sneddon syndrome - imaging findings. (26486491)
2015
6
Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis. (24513089)
2014
7
Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case. (25341280)
2014
8
Cardiac valve degeneration in a patient with Sneddon syndrome. (25479820)
2014
9
A suicide attempt in a context of bipolar symptoms leading to a diagnosis of Sneddon syndrome. (24026725)
2013
10
Sneddon Syndrome Presenting With Unilateral Third Cranial Nerve Palsy. (24051423)
2013
11
Sneddon syndrome associated with Protein S deficiency. (22565458)
2012
12
Transient retinal venous and arterial occlusive events in a case of sneddon syndrome. (25389744)
2012
13
Improvement of neurological symptoms and memory and emotional status in a case of seronegative Sneddon syndrome with cyclophosphamide. (20444540)
2010
14
Detection of lupus anticoagulant and successful anticoagulation in familial Sneddon syndrome. (20237126)
2010
15
Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. (20849802)
2010
16
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. (18474464)
2008
17
The Sneddon syndrome. (18541809)
2008
18
Perioperative management of Sneddon syndrome during thyroidectomy. (18929289)
2008
19
Diffuse retinal arterial occlusion, neovascularization, and vitreous hemorrhage as the presenting sign of sneddon syndrome: a 7.5-year angiographic follow-up. (25390485)
2007
20
Central retinal vein occlusion as a possible presenting manifestation of Sneddon syndrome. (17895826)
2007
21
Mitral valve replacement in a patient with Sneddon syndrome. (16202906)
2005
22
Factor V Leiden mutation in Sneddon syndrome. (12765305)
2003
23
Sneddon syndrome revealing dysfibrinogenemia. (12839611)
2003
24
Clotting factor VIII in Sneddon syndrome]. (14598591)
2003
25
The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. (12640088)
2003
26
Therapy of Sneddon syndrome. (12373028)
2002
27
Sneddon syndrome with multiple cerebral infarctions 12 years after the onset of livedo vasculitis: a possible involvement of platelet activation. (11603394)
2001
28
The mystery of Sneddon syndrome: relationship with antiphospholipid syndrome and systemic lupus erythematosus. (10968900)
2000
29
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. (11042423)
2000
30
Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. (10424203)
1999
31
Sneddon syndrome and dementia. (10593361)
1999
32
Antiphospholipid antibodies in a female patient with the Sneddon syndrome]. (9769746)
1998
33
The natural course of cerebral lesions in Sneddon syndrome. (9006414)
1997
34
Atrial myxoma syndrome mimicking Ehrmann-Sneddon syndrome. (9529569)
1997
35
Familial Binswanger-type encephalopathy with Sneddon syndrome]. (8752690)
1996
36
Sneddon syndrome. (7640198)
1995
37
Cerebral blood flow in Sneddon syndrome. (8113897)
1994
38
General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome). (1947326)
1991
39
Sneddon syndrome presenting with hemicranic attacks: a case report. (1815538)
1991
40
Sneddon syndrome: cerebral perfusion studies by Tc99m HM-PAO and SPECT. (2013522)
1991
41
Sneddon syndrome: a diagnosis you do not want to miss. (2121654)
1990
42
Cutaneous thrombosis, cerebrovascular thrombosis, and lupus anticoagulant--the Sneddon syndrome. Report of 10 cases. (2109736)
1990
43
Sneddon syndrome: CT, arteriography, and MR imaging. (2910928)
1989
44
Sneddon syndrome: another mendelian etiology of stroke. (3239961)
1988
45
Simultaneous bilateral central retinal arterial occlusion in a patient with Sneddon syndrome: case history. (3826753)
1987
46
Generalized racemose livedo with cerebrovascular lesions (Sneddon syndrome): an occlusive arteriolopathy due to proliferation and migration of medial smooth muscle cells. (4005168)
1985
47
Recurrent transient global amnesia in a case with cerebrovascular lesions and livedo reticularis (Sneddon Syndrome). (92541)
1979

Variations for Sneddon Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Sneddon Syndrome:

70
id Symbol AA change Variation ID SNP ID
1ADA2p.Val119AlaVAR_072562
2ADA2p.Gly142SerVAR_072563

Clinvar genetic disease variations for Sneddon Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ADA2NM_ 177405.2(ADA2): c.355A> G (p.Thr119Ala)SNVPathogenicrs775440641GRCh37Chr 22, 17669232: 17669232
2ADA2NM_ 177405.2(ADA2): c.424G> A (p.Gly142Ser)SNVPathogenicrs770689762GRCh38Chr 22, 17182696: 17182696

Expression for genes affiliated with Sneddon Syndrome

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Search GEO for disease gene expression data for Sneddon Syndrome.

Pathways for genes affiliated with Sneddon Syndrome

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GO Terms for genes affiliated with Sneddon Syndrome

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Cellular components related to Sneddon Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1azurophil granule lumenGO:003557810.3ADA2, ARSA
2endoplasmic reticulum lumenGO:00057889.3ARSA, F2, SERPINC1
3extracellular regionGO:00055768.3ADA2, APOH, ARSA, F2, SERPINC1
4extracellular spaceGO:00056157.5ADA2, APOH, ARSA, F2, SERPINC1

Biological processes related to Sneddon Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:00075979.8APOH, F2
2negative regulation of fibrinolysisGO:00519189.7APOH, F2
3positive regulation of blood coagulationGO:00301949.7APOH, F2
4hemostasisGO:00075999.6F2, SERPINC1
5response to nutrientGO:00075849.3ARSA, SERPINC1
6cellular protein metabolic processGO:00442679.2ADA2, F2, SERPINC1
7regulation of blood coagulationGO:00301939.0APOH, F2, SERPINC1

Molecular functions related to Sneddon Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082018.1ADA2, APOH, F2, SERPINC1

Sources for Sneddon Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet