MCID: SND002
MIFTS: 58

Sneddon Syndrome malady

Neuronal diseases, Bone diseases, Skin diseases, Cardiovascular diseases categories

Summaries for Sneddon Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 retinal artery occlusion, and has symptoms including renal disease/nephropathy, tremor and chorea/athetosis/choreoathetosis/choreic syndrome. 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 skin, heart and brain, and related mouse phenotypes are hematopoietic system and homeostasis/metabolism.

Description from OMIM:46 182410

Aliases & Classifications for Sneddon Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 56SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
sneddon syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

sneddon syndrome 8 42 44 48 46 60
livedo reticularis and cerebrovascular accidents 42 48
idiopathic livedo reticularis with systemic involvement 8
cerebro-vascular lesions and livedo reticularis 42
livedo racemosa and cerebrovascular accidents 48
ehrmann-sneddon syndrome 48
sneddon's syndrome 42


External Ids:

Disease Ontology8 DOID:13096
OMIM46 182410
MeSH34 D018860
ICD10 via Orphanet26 I77.8
SNOMED-CT56 238776001
SNOMED-CT via Orphanet57 238776001
UMLS via Orphanet61 C0282492
MESH via Orphanet35 D018860

Related Diseases for Sneddon Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Sneddon Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1antiphospholipid syndrome30.3F8, F5, CD79A, PF4, F2, SERPINC1
2retinal artery occlusion30.0APOH
3dementia30.0ARSA
4central retinal vein occlusion30.0APOH, F5
5retinal vein occlusion30.0SERPINC1, F5, APOH
6protein s deficiency30.0F9, F5, SERPINC1
7vasculitis30.0APOH, CD79A, F2
8systemic lupus erythematosus30.0F2, CD79A, F8, APOH
9lupus erythematosus30.0SERPINC1, F2, CD79A, F5, APOH
10cerebritis10.4
11retinitis10.2
12image syndrome10.2
13central retinal artery occlusion10.0
14transient global amnesia10.0
15cranial nerve palsy10.0
16migraine10.0APOH
17cerebrovascular disease10.0APOH
18eclampsia10.0SERPINC1
19hemorrhagic disease10.0F9
20fabry disease10.0ARSA
21wilson disease10.0ARSA
22polycythemia vera10.0PF4
23uremia10.0PF4
24intermittent claudication10.0PF4
25ischemia10.0PF4
26respiratory failure10.0SERPINC1
27acquired immunodeficiency syndrome10.0F8
28ovarian hyperstimulation syndrome10.0F5
29patent foramen ovale10.0F5
30intermediate coronary syndrome10.0SERPINC1
31cardiac tamponade10.0F8
32coronary thrombosis10.0SERPINC1
33peripheral vascular disease10.0CD79A
34sinusitis10.0CD79A
35neuropathy10.0CD79A
36essential hypertension10.0PF4
37pneumonia10.0CD79A
38factor xii deficiency10.0F5
39branch retinal artery occlusion10.0F5
40inflammatory bowel disease10.0CD79A
41glomerulonephritis10.0CD79A
42schistosomiasis10.0CD79A
43coronary heart disease10.0SERPINC1, PF4
44q fever10.0CD79A
45homocysteinemia10.0F5
46autoimmune hemolytic anemia10.0CD79A
47acute myocardial infarction10.0PF4, SERPINC1
48thrombophlebitis10.0F8, APOH
49sickle cell disease10.0PF4, F9
50purpura fulminans10.0F5, SERPINC1

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



Diseases related to sneddon syndrome

Clinical Features for Sneddon Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

182410

Clinical synopsis from OMIM:

182410

Symptoms:

48 (show all 24)
  • 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
  • muscle weakness/flaccidity
  • psychic/psychomotor regression/dementia/intellectual decline
  • elocution disorders/dysarthria/dysphonia
  • 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
  • dizziness

Drugs & Therapeutics for Sneddon Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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Genetic Tests for Sneddon Syndrome

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Anatomical Context for Sneddon Syndrome

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32MalaCards
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MalaCards organs/tissues related to Sneddon Syndrome:

32
Skin, Heart, Brain, Bone, Smooth muscle

Animal Models for Sneddon Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Sneddon Syndrome:

36
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

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50PubMed
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Articles related to Sneddon Syndrome:

(show all 38)
idTitleAuthorsYear
1
Sneddon Syndrome Presenting With Unilateral Third Cranial Nerve Palsy. (24051423)
2013
2
A suicide attempt in a context of bipolar symptoms leading to a diagnosis of Sneddon syndrome. (24026725)
2013
3
Sneddon syndrome associated with Protein S deficiency. (22565458)
2012
4
Detection of lupus anticoagulant and successful anticoagulation in familial Sneddon syndrome. (20237126)
2010
5
Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. (20849802)
2010
6
Improvement of neurological symptoms and memory and emotional status in a case of seronegative Sneddon syndrome with cyclophosphamide. (20444540)
2010
7
The Sneddon syndrome. (18541809)
2008
8
Perioperative management of Sneddon syndrome during thyroidectomy. (18929289)
2008
9
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. (18474464)
2008
10
Central retinal vein occlusion as a possible presenting manifestation of Sneddon syndrome. (17895826)
2007
11
Mitral valve replacement in a patient with Sneddon syndrome. (16202906)
2005
12
Factor V Leiden mutation in Sneddon syndrome. (12765305)
2003
13
Sneddon syndrome revealing dysfibrinogenemia. (12839611)
2003
14
The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. (12640088)
2003
15
Clotting factor VIII in Sneddon syndrome]. (14598591)
2003
16
Therapy of Sneddon syndrome. (12373028)
2002
17
Sneddon syndrome with multiple cerebral infarctions 12 years after the onset of livedo vasculitis: a possible involvement of platelet activation. (11603394)
2001
18
The mystery of Sneddon syndrome: relationship with antiphospholipid syndrome and systemic lupus erythematosus. (10968900)
2000
19
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. (11042423)
2000
20
Sneddon syndrome and dementia. (10593361)
1999
21
Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. (10424203)
1999
22
Antiphospholipid antibodies in a female patient with the Sneddon syndrome]. (9769746)
1998
23
Atrial myxoma syndrome mimicking Ehrmann-Sneddon syndrome. (9529569)
1997
24
Subcorneal pustular dermatosis (Sneddon-Wilkinson syndrome): another cutaneous manifestation of SAPHO syndrome? (9189065)
1997
25
The natural course of cerebral lesions in Sneddon syndrome. (9006414)
1997
26
Familial Binswanger-type encephalopathy with Sneddon syndrome]. (8752690)
1996
27
Sneddon syndrome. (7640198)
1995
28
Cerebral blood flow in Sneddon syndrome. (8113897)
1994
29
General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome). (1947326)
1991
30
Sneddon syndrome: cerebral perfusion studies by Tc99m HM-PAO and SPECT. (2013522)
1991
31
Sneddon syndrome presenting with hemicranic attacks: a case report. (1815538)
1991
32
Sneddon syndrome: a diagnosis you do not want to miss. (2121654)
1990
33
Cutaneous thrombosis, cerebrovascular thrombosis, and lupus anticoagulant--the Sneddon syndrome. Report of 10 cases. (2109736)
1990
34
Sneddon syndrome: CT, arteriography, and MR imaging. (2910928)
1989
35
Sneddon syndrome: another mendelian etiology of stroke. (3239961)
1988
36
Simultaneous bilateral central retinal arterial occlusion in a patient with Sneddon syndrome: case history. (3826753)
1987
37
Generalized racemose livedo with cerebrovascular lesions (Sneddon syndrome): an occlusive arteriolopathy due to proliferation and migration of medial smooth muscle cells. (4005168)
1985
38
Recurrent transient global amnesia in a case with cerebrovascular lesions and livedo reticularis (Sneddon Syndrome). (92541)
1979

Genetic Variations for Sneddon Syndrome

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Expression for genes affiliated with Sneddon Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sneddon Syndrome

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Pathways for genes affiliated with Sneddon Syndrome

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12EMD Millipore, 53Reactome, 49PharmGKB, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 52R&D Systems
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Compounds for genes affiliated with Sneddon Syndrome

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44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 2BitterDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Sneddon Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 140)
idCompoundScoreTop Affiliating Genes
1coumarins4410.2APOH, F9
2dextran sulfate449.6F5, APOH, F9
3organon449.5F2, F9, SERPINC1
4polybrene449.4SERPINC1, F2, PF4
5rfviii449.4F8, F5, F9
6fibrinopeptide a449.4PF4, F2, SERPINC1
7inogatran449.4SERPINC1, F5, F2
8ecarin449.4SERPINC1, F2, F5
9hirugen449.4SERPINC1, F2, F5
10spectrozyme449.3F5, F2, SERPINC1
11tranexamic acid44 1110.3SERPINC1, F2, F8, F9
12ancrod449.2SERPINC1, F2, F5
13ximelagatran44 1110.2SERPINC1, F5, F2
14heparinoids449.1SERPINC1, F2, F5
15ivig449.0F9, APOH, F8, CD79A
16aprotinin44 1110.0F9, SERPINC1, PF4, F5
17bivalirudin44 1110.0F5, SERPINC1, F2
18warfarin44 49 11 2412.0PF4, SERPINC1, CD79A, APOH, F9
19coumarin44 2 49 2412.0SERPINC1, F9, F2, F5
20danaparoid448.9F5, PF4, F2, SERPINC1
21protamine sulfate448.9PF4, F2, SERPINC1, F5
22heparin44 28 11 2411.9PF4, F8, CD79A, F9, APOH
23gamma-carboxyglutamic acid448.8F2, PF4, F5, F9
24Drotrecogin alfa118.8F8, PF4, F2, F5
25protamine448.7SERPINC1, PF4, F2, F5
26kaolin448.7F2, F5, F8, APOH, F9
27ristocetin448.7F2, SERPINC1, F9, F8, F5
28galactose448.7CD79A, F8, APOH, F9, F5
29phosphatidylethanolamine44 119.7F5, F8, APOH, F2, F9
30desmopressin44 59 28 1111.7F8, F5, F9, F2, SERPINC1
31acenocoumarol44 49 1110.7F9, F5, F2
32fondaparinux448.6SERPINC1, F9, F2, PF4, F5
33dermatan sulfate448.6F9, F5, PF4, F2, SERPINC1
34prostacyclin448.6APOH, F8, F5, PF4, SERPINC1
35homocysteine44 249.4F9, APOH, SERPINC1, F8, F5, F2
36polyacrylamide448.4F8, ARSA, F5, F9, APOH
37kininogen448.3F5, APOH, PF4, F2, SERPINC1, F9
38phosphatidylserine44 28 1110.2APOH, F8, F5, F9, F2, CD79A
39phosphatidylcholine448.2APOH, F2, F5, F8, CD79A, F9
40hirudin448.2PF4, F2, F5, F8, F9, SERPINC1
41polysaccharide448.2ARSA, F5, CD79A, PF4, SERPINC1, F8
42polyethylene glycol448.1PF4, CD79A, F8, F5, F2, SERPINC1
43arginine447.8CD79A, F9, APOH, PF4, F8, F5
44aspirin44 49 28 2410.8SERPINC1, F8, APOH, CD79A, F5, PF4
45citrate447.7SERPINC1, F9, F8, PF4, CD79A, F5
46lactate447.7F5, PF4, CD79A, ARSA, F8, APOH
47estrogen447.5F8, CD79A, F2, APOH, F9, SERPINC1
48fibrinogen447.5APOH, F9, F5, CD79A, F2, F8
49alanine447.3F5, F9, CD79A, SERPINC1, PF4, F2
50creatinine447.1F9, F8, F5, CD79A, F2, APOH

GO Terms for genes affiliated with Sneddon Syndrome

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Sneddon Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet