MCID: SND002
MIFTS: 51

Sneddon Syndrome malady

Neuronal, Bone, Skin, Cardiovascular categories

Summaries for Sneddon Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Sneddon syndrome is a progressive condition characterized by livedo reticularis (bluish net-like patterns of discoloration on the skin) and neurological abnormalities. symptoms may include headache, dizziness, high blood pressure, heart disease, mini-strokes and/or stroke. reduced blood flow to the brain may cause lesions to develop within the central nervous system. this can lead to reduced mental capacity, memory loss and other neurological symptoms. the exact cause of sneddon syndrome is unknown. some familial cases have been described. it has also been associated with obliterating vasculitis and antiphospholipid antibody syndrome.   last updated: 2/22/2012

MalaCards: Sneddon Syndrome, also known as livedo reticularis and cerebrovascular accidents, is related to antiphospholipid syndrome and central retinal vein occlusion, and has symptoms including dizziness, cutis marmorata/marbled skin/livedo and vascular anomalies of skin/mucosae. An important gene associated with Sneddon Syndrome is APOH (apolipoprotein H (beta-2-glycoprotein I)), and among its related pathways are Selected targets of C/EBPalpha and Gamma-carboxylation, transport, and amino-terminal cleavage of proteins. The compounds coumarins and dextran sulfate have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and smooth muscle, and related mouse phenotypes are hematopoietic system and homeostasis/metabolism.

Description from OMIM:47 182410

Aliases & Classifications for Sneddon Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 57SNOMED-CT, 35MeSH, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Bone, Skin, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
sneddon syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

sneddon syndrome 8 43 45 49 47 61
livedo reticularis and cerebrovascular accidents 43 49
idiopathic livedo reticularis with systemic involvement 8
cerebro-vascular lesions and livedo reticularis 43
livedo racemosa and cerebrovascular accidents 49
ehrmann-sneddon syndrome 49
sneddon's syndrome 43


External Ids:

Disease Ontology8 DOID:13096
OMIM47 182410
MeSH35 D018860
ICD10 via Orphanet26 I77.8
SNOMED-CT57 238776001
SNOMED-CT via Orphanet58 238776001
UMLS via Orphanet62 C0282492
MESH via Orphanet36 D018860

Related Diseases for Sneddon Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1antiphospholipid syndrome30.3F5, F8, PF4, APOH, CD79A, SERPINC1
2central retinal vein occlusion30.0APOH, F5
3protein s deficiency30.0F9, F5, SERPINC1
4dysfibrinogenemia30.0F5, SERPINC1, F2
5vasculitis30.0F2, APOH, CD79A
6systemic lupus erythematosus30.0APOH, CD79A, F8, F2
7n syndrome10.3
8transient global amnesia10.0
9young syndrome10.0
10angiomatosis10.0
11retinal artery occlusion10.0APOH
12migraine10.0APOH
13cerebrovascular disease10.0APOH
14eclampsia10.0SERPINC1
15hemorrhagic disease10.0F9
16fabry disease10.0ARSA
17wilson disease10.0ARSA
18polycythemia vera10.0PF4
19uremia10.0PF4
20intermittent claudication10.0PF4
21dementia10.0ARSA
22ischemia10.0PF4
23respiratory failure10.0SERPINC1
24acquired immunodeficiency syndrome10.0F8
25ovarian hyperstimulation syndrome10.0F5
26patent foramen ovale10.0F5
27intermediate coronary syndrome10.0SERPINC1
28cardiac tamponade10.0F8
29coronary thrombosis10.0SERPINC1
30peripheral vascular disease10.0CD79A
31sinusitis10.0CD79A
32neuropathy10.0CD79A
33essential hypertension10.0PF4
34pneumonia10.0CD79A
35factor xii deficiency10.0F5
36branch retinal artery occlusion10.0F5
37inflammatory bowel disease10.0CD79A
38glomerulonephritis10.0CD79A
39schistosomiasis10.0CD79A
40coronary heart disease10.0SERPINC1, PF4
41q fever10.0CD79A
42homocysteinemia10.0F5
43autoimmune hemolytic anemia10.0CD79A
44acute myocardial infarction10.0SERPINC1, PF4
45thrombophlebitis10.0F8, APOH
46sickle cell disease10.0PF4, F9
47purpura fulminans10.0SERPINC1, F5
48retinal vascular occlusion10.0APOH, F5
49interstitial lung disease10.0CD79A
50mondor disease10.0F5, APOH

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



Diseases related to sneddon syndrome

Clinical Features for Sneddon Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

182410

Clinical synopsis from OMIM:

182410

Symptoms:

49 (show all 24)
  • dizziness
  • cutis marmorata/marbled skin/livedo
  • vascular anomalies of skin/mucosae
  • arterial stenosis/occlusion
  • facial pain/cephalalgia/migraine
  • transient cerebral ischemia/stroke
  • troubles of memory/amnesia/hypermnesia
  • psychic/behavioural troubles
  • visual loss/blindness/amblyopia
  • transient amaurosis/acute visual trouble
  • chronic arterial hypertension
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • elocution disorders/dysarthria/dysphonia
  • psychic/psychomotor regression/dementia/intellectual decline
  • muscle weakness/flaccidity
  • renal disease/nephropathy
  • tremor
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • autoimmunity/autoimmune reaction/autoantibodies
  • intracranial/cerebral/meningeal hemorrhage
  • autosomal dominant inheritance

Drugs & Therapeutics for Sneddon Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Sneddon Syndrome

Drug clinical trials:

Search ClinicalTrials for Sneddon Syndrome

Search NIH Clinical Center for Sneddon Syndrome

Search CenterWatch for Sneddon Syndrome

Genetic Tests for Sneddon Syndrome

Anatomical Context for Sneddon Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Sneddon Syndrome:

33
Brain, Heart, Smooth muscle, Kidney, Skin

Animal Models for Sneddon Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Sneddon Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.6F8, ARSA, CD79A, PF4, F2, SERPINC1
2MP:00053766.4SERPINC1, F9, APOH, F8, ARSA, F5

Publications for Sneddon Syndrome

Sources:
51PubMed
See all sources

Articles related to Sneddon Syndrome:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
Acute central retinal artery occlusion associated with livedoid vasculopathy: a variant of Sneddon's syndrome. (24082777)
2013
2
Sneddon Syndrome Presenting With Unilateral Third Cranial Nerve Palsy. (24051423)
2013
3
Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. (20849802)
2010
4
Improvement of neurological symptoms and memory and emotional status in a case of seronegative Sneddon syndrome with cyclophosphamide. (20444540)
2010
5
A rarely seen syndrome in rehabilitation of hemiplegia: antiphospholipid antibody-negative Sneddon's syndrome. (19697034)
2010
6
The Sneddon syndrome. (18541809)
2008
7
Perioperative management of Sneddon syndrome during thyroidectomy. (18929289)
2008
8
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. (18474464)
2008
9
Central retinal vein occlusion as a possible presenting manifestation of Sneddon syndrome. (17895826)
2007
10
Mitral valve replacement in a patient with Sneddon syndrome. (16202906)
2005
11
Familial inflammatory Sneddon's syndrome-case report and review of the literature. (15340865)
2005
12
Antibodies to glutamate receptor subtype 3 (GluR3) are found in some patients suffering from epilepsy as the main disease, but not in patients whose epilepsy accompanies antiphospholipid syndrome or Sneddon's syndrome. (16278146)
2005
13
Factor V Leiden mutation in Sneddon syndrome. (12765305)
2003
14
Sneddon syndrome revealing dysfibrinogenemia. (12839611)
2003
15
The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. (12640088)
2003
16
Clotting factor VIII in Sneddon syndrome]. (14598591)
2003
17
Therapy of Sneddon syndrome. (12373028)
2002
18
Sneddon syndrome with multiple cerebral infarctions 12 years after the onset of livedo vasculitis: a possible involvement of platelet activation. (11603394)
2001
19
The mystery of Sneddon syndrome: relationship with antiphospholipid syndrome and systemic lupus erythematosus. (10968900)
2000
20
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. (11042423)
2000
21
Sneddon syndrome and dementia. (10593361)
1999
22
Livedo reticularis and cerebrovascular accidents (Sneddon's syndrome) as a clinical expression of antiphospholipid syndrome. (10343946)
1999
23
Moyamoya syndrome associated with Sneddon's syndrome and antiphospholipid-protein antibodies. (17895140)
1999
24
Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. (10424203)
1999
25
Sneddon's syndrome and antithrombin III. (10487010)
1999
26
High levels of IgA anticardiolipin antibodies in patients with systemic lupus erythematosus, Henoch-Schoenlein purpura, Sneddon's syndrome and recurrent pregnancy loss. (10613673)
1999
27
Antiphospholipid antibodies in a female patient with the Sneddon syndrome]. (9769746)
1998
28
Atrial myxoma syndrome mimicking Ehrmann-Sneddon syndrome. (9529569)
1997
29
Subcorneal pustular dermatosis (Sneddon-Wilkinson syndrome): another cutaneous manifestation of SAPHO syndrome? (9189065)
1997
30
The natural course of cerebral lesions in Sneddon syndrome. (9006414)
1997
31
Annular atrophic lichen planus and Sneddon's syndrome. (9529568)
1997
32
Familial Binswanger-type encephalopathy with Sneddon syndrome]. (8752690)
1996
33
A combination of livedo racemosa, occlusion of cerebral blood vessels, and nephropathy: kidney involvement in Sneddon's syndrome. (7645561)
1995
34
Sneddon syndrome. (7640198)
1995
35
Cerebral blood flow in Sneddon syndrome. (8113897)
1994
36
Familial Sneddon's syndrome: clinical, hematologic, and radiographic findings in two brothers. (8145905)
1994
37
Study of antiphospholipid antibodies in a patient with Sneddon's syndrome and her family. (8165682)
1994
38
Anti-beta 2-glycoprotein I antibodies in Sneddon's syndrome. (8513196)
1993
39
Sneddon's syndrome with anticardiolipin antibodies--complications and treatment. (8310361)
1993
40
Sneddon's syndrome, anticardiolipin antibodies and anticardiolipin cofactor. A case report. (1414558)
1992
41
Sneddon's syndrome associated with anticardiolipin antibody: a case report. (1441902)
1992
42
General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome). (1947326)
1991
43
Sneddon syndrome presenting with hemicranic attacks: a case report. (1815538)
1991
44
Sneddon syndrome: a diagnosis you do not want to miss. (2121654)
1990
45
Cutaneous thrombosis, cerebrovascular thrombosis, and lupus anticoagulant--the Sneddon syndrome. Report of 10 cases. (2109736)
1990
46
Anticardiolipin antibodies in Sneddon's syndrome. (2314589)
1990
47
Sneddon syndrome: CT, arteriography, and MR imaging. (2910928)
1989
48
Sneddon syndrome: another mendelian etiology of stroke. (3239961)
1988
49
Simultaneous bilateral central retinal arterial occlusion in a patient with Sneddon syndrome: case history. (3826753)
1987
50
Recurrent transient global amnesia in a case with cerebrovascular lesions and livedo reticularis (Sneddon Syndrome). (92541)
1979

Genetic Variations for Sneddon Syndrome

Expression for genes affiliated with Sneddon Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Sneddon Syndrome

Search GEO for disease gene expression data for Sneddon Syndrome.

Pathways for genes affiliated with Sneddon Syndrome

Sources:
12EMD Millipore, 54Reactome, 50PharmGKB, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 53R&D Systems
See all sources

Compounds for genes affiliated with Sneddon Syndrome

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 2BitterDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Sneddon Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 140)
idCompoundScoreTop Affiliating Genes
1coumarins4510.2APOH, F9
2dextran sulfate459.6F5, APOH, F9
3organon459.5F2, F9, SERPINC1
4polybrene459.4SERPINC1, F2, PF4
5rfviii459.4F8, F5, F9
6fibrinopeptide a459.4PF4, F2, SERPINC1
7inogatran459.4SERPINC1, F5, F2
8ecarin459.4SERPINC1, F2, F5
9hirugen459.4SERPINC1, F2, F5
10spectrozyme459.3F5, F2, SERPINC1
11tranexamic acid45 1110.3SERPINC1, F2, F8, F9
12ancrod459.2SERPINC1, F2, F5
13ximelagatran45 1110.2SERPINC1, F5, F2
14heparinoids459.1SERPINC1, F2, F5
15ivig459.0F9, APOH, F8, CD79A
16aprotinin45 1110.0F9, SERPINC1, PF4, F5
17bivalirudin45 1110.0F5, SERPINC1, F2
18warfarin45 50 11 2412.0PF4, SERPINC1, CD79A, APOH, F9
19coumarin45 2 50 2412.0SERPINC1, F9, F2, F5
20danaparoid458.9F5, PF4, F2, SERPINC1
21protamine sulfate458.9PF4, F2, SERPINC1, F5
22heparin45 29 11 2411.9PF4, F8, CD79A, F9, APOH
23gamma-carboxyglutamic acid458.8F2, PF4, F5, F9
24Drotrecogin alfa118.8F8, PF4, F2, F5
25protamine458.7SERPINC1, PF4, F2, F5
26kaolin458.7F2, F5, F8, APOH, F9
27ristocetin458.7F2, SERPINC1, F9, F8, F5
28galactose458.7CD79A, F8, APOH, F9, F5
29phosphatidylethanolamine45 119.7F5, F8, APOH, F2, F9
30desmopressin45 60 29 1111.7F8, F5, F9, F2, SERPINC1
31acenocoumarol45 50 1110.7F9, F5, F2
32fondaparinux458.6SERPINC1, F9, F2, PF4, F5
33dermatan sulfate458.6F9, F5, PF4, F2, SERPINC1
34prostacyclin458.6APOH, F8, F5, PF4, SERPINC1
35homocysteine45 249.4F9, APOH, SERPINC1, F8, F5, F2
36polyacrylamide458.4F8, ARSA, F5, F9, APOH
37kininogen458.3F5, APOH, PF4, F2, SERPINC1, F9
38phosphatidylserine45 29 1110.2APOH, F8, F5, F9, F2, CD79A
39phosphatidylcholine458.2APOH, F2, F5, F8, CD79A, F9
40hirudin458.2PF4, F2, F5, F8, F9, SERPINC1
41polysaccharide458.2ARSA, F5, CD79A, PF4, SERPINC1, F8
42polyethylene glycol458.1PF4, CD79A, F8, F5, F2, SERPINC1
43arginine457.8CD79A, F9, APOH, PF4, F8, F5
44aspirin45 50 29 2410.8SERPINC1, F8, APOH, CD79A, F5, PF4
45citrate457.7SERPINC1, F9, F8, PF4, CD79A, F5
46lactate457.7F5, PF4, CD79A, ARSA, F8, APOH
47estrogen457.5F8, CD79A, F2, APOH, F9, SERPINC1
48fibrinogen457.5APOH, F9, F5, CD79A, F2, F8
49alanine457.3F5, F9, CD79A, SERPINC1, PF4, F2
50creatinine457.1F9, F8, F5, CD79A, F2, APOH

GO Terms for genes affiliated with Sneddon Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Sneddon Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.3F2, ARSA, F9
2platelet alpha granule lumenGO:0310938.9F8, F5, PF4
3extracellular spaceGO:0056157.9SERPINC1, F2, PF4, F5, F8, APOH
4extracellular regionGO:0055767.5F9, F8, F5, PF4, F2, SERPINC1
5plasma membraneGO:0058867.0F9, F8, ARSA, F5, GRIA3, CD79A

Biological processes related to Sneddon Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fibrinolysisGO:0519189.7F2, APOH
2positive regulation of blood coagulationGO:0301949.6APOH, F2
3peptidyl-glutamic acid carboxylationGO:0171879.3F9, F2
4post-translational protein modificationGO:0436879.3F2, ARSA, F9
5blood coagulation, intrinsic pathwayGO:0075979.1F2, F8, APOH, F9
6platelet degranulationGO:0025769.0PF4, F5, F8
7platelet activationGO:0301688.5F8, F5, PF4, F2
8blood coagulationGO:0075967.9F9, F8, F5, PF4, F2, SERPINC1

Molecular functions related to Sneddon Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.4SERPINC1, PF4, APOH

Products for genes affiliated with Sneddon Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sneddon Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet