MCID: SND002
MIFTS: 59

Sneddon Syndrome malady

Rare diseases, Neuronal diseases, Bone diseases, Skin diseases, Cardiovascular diseases categories
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Summaries for Sneddon Syndrome

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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 retinal artery occlusion and central retinal vein occlusion, and has symptoms including renal disease/nephropathy, tremor and chorea/athetosis/choreoathetosis/choreic syndrome. An important gene associated with Sneddon Syndrome is CECR1 (cat eye syndrome chromosome region, candidate 1), and among its related pathways are Selected targets of C EBPalpha and Selected targets of HNF1. The compounds polybrene and fibrinopeptide a have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and brain, and related mouse phenotypes are mortality/aging and hematopoietic system.

Description from OMIM:47 182410

Aliases & Classifications for Sneddon Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 35MeSH, 58SNOMED-CT, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:



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 62
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
MeSH35 D018860
OMIM47 182410
ICD10 via Orphanet26 I77.8
SNOMED-CT58 238776001
SNOMED-CT via Orphanet59 238776001
UMLS via Orphanet63 C0282492
MESH via Orphanet36 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 99)
idRelated DiseaseScoreTop Affiliating Genes
1retinal artery occlusion30.3APOH
2central retinal vein occlusion30.1F5, APOH
3retinal vein occlusion30.1APOH, SERPINC1, F5
4protein s deficiency30.1F9, SERPINC1, F5
5systemic lupus erythematosus30.1F8, APOH, F2
6dysfibrinogenemia30.0F2, SERPINC1, F5
7lupus erythematosus30.0F5, SERPINC1, APOH, F2
8antiphospholipid syndrome29.9F2, APOH, SERPINC1, PF4, F8, F5
9cerebritis10.4
10retinitis10.2
11eclampsia10.1SERPINC1
12intermediate coronary syndrome10.1SERPINC1
13coronary thrombosis10.1SERPINC1
14purpura10.1SERPINC1
15warfarin sensitivity10.1F9
16cardiac tamponade10.1F8
17polyarteritis nodosa10.1CECR1
18hypersplenism10.1F2
19thrombophlebitis10.1APOH, F8
20branch retinal artery occlusion10.1F5
21factor xii deficiency10.1F5
22homocysteinemia10.1F5
23patent foramen ovale10.1F5
24thrombotic thrombocytopenic purpura, acquired10.1APOH, F8
25central retinal artery occlusion10.1
26transient global amnesia10.1
27cranial nerve palsy10.1
28dementia10.1
29vasculitis10.1
30angiomatosis10.1
31gaucher's disease10.1ARSA, F9
32hemarthrosis10.0F8, F9
33purpura fulminans10.0F5, SERPINC1
34myelofibrosis10.0F8, PF4
35mondor disease10.0F5, APOH
36vitamin k deficiency hemorrhagic disease10.0F2, F8
37post-thrombotic syndrome10.0F5, SERPINC1
38sickle cell disease10.0PF4, F9
39retinal vascular occlusion10.0APOH, F5
40legg-calve-perthes disease10.0SERPINC1, F5
41placental abruption10.0SERPINC1, F5
42sagittal sinus thrombosis10.0SERPINC1, F5
43hepatitis a10.0F8, F2
44bilirubin metabolic disorder10.0F9, F2
45meningococcemia10.0SERPINC1, F5
46galactosemia10.0SERPINC1, F2
47blood platelet disease10.0SERPINC1, PF4, F8
48homocystinuria10.0F5, SERPINC1
49combined factor v and viii deficiency10.0F8, F5
50arthropathy10.0F8, F9

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



Diseases related to sneddon syndrome

Symptoms for Sneddon Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

182410

Clinical features from OMIM:

182410

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Sneddon Syndrome

Search NIH Clinical Center for Sneddon Syndrome

Genetic Tests for Sneddon Syndrome

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Anatomical Context for Sneddon Syndrome

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33MalaCards
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MalaCards organs/tissues related to Sneddon Syndrome:

33
Skin, Heart, Brain, Bone, Smooth muscle

Animal Models for Sneddon Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Sneddon Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.3F5, F8, SERPINC1, APOH, F9, F2
2MP:00053977.3F2, F9, SERPINC1, PF4, F8, ARSA
3MP:00053766.3ARSA, F2, F9, APOH, SERPINC1, PF4

Publications for Sneddon Syndrome

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52PubMed
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Articles related to Sneddon Syndrome:

(show all 36)
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
The natural course of cerebral lesions in Sneddon syndrome. (9006414)
1997
25
Familial Binswanger-type encephalopathy with Sneddon syndrome]. (8752690)
1996
26
Sneddon syndrome. (7640198)
1995
27
Cerebral blood flow in Sneddon syndrome. (8113897)
1994
28
General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome). (1947326)
1991
29
Sneddon syndrome: cerebral perfusion studies by Tc99m HM-PAO and SPECT. (2013522)
1991
30
Sneddon syndrome: a diagnosis you do not want to miss. (2121654)
1990
31
Cutaneous thrombosis, cerebrovascular thrombosis, and lupus anticoagulant--the Sneddon syndrome. Report of 10 cases. (2109736)
1990
32
Sneddon syndrome: CT, arteriography, and MR imaging. (2910928)
1989
33
Sneddon syndrome: another mendelian etiology of stroke. (3239961)
1988
34
Simultaneous bilateral central retinal arterial occlusion in a patient with Sneddon syndrome: case history. (3826753)
1987
35
Generalized racemose livedo with cerebrovascular lesions (Sneddon syndrome): an occlusive arteriolopathy due to proliferation and migration of medial smooth muscle cells. (4005168)
1985
36
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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Expression for genes affiliated with Sneddon Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 12EMD Millipore, 55Reactome, 51PharmGKB, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG, 54R&D Systems
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Pathways related to Sneddon Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SERPINC1, F9
29.6APOH, F8
3
Show member pathways
9.0F2, F9, ARSA
4
Show member pathways
8.6PF4, F8, F5
5
Show member pathways
7.7F5, F8, SERPINC1, F9, F2
6
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
7.7F2, F9, SERPINC1, F8, F5
7
Show member pathways
7.2F5, F8, PF4, SERPINC1, F9, F2
8
Show member pathways
7.2F5, F2, F9, SERPINC1, PF4, F8

Compounds for genes affiliated with Sneddon Syndrome

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45Novoseek, 11DrugBank, 51PharmGKB, 3BitterDB, 24HMDB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Sneddon Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 147)
idCompoundScoreTop Affiliating Genes
1polybrene459.3PF4, SERPINC1, F2
2fibrinopeptide a459.2SERPINC1, F2, PF4
3organon459.2SERPINC1, F9, F2
4inogatran459.0F2, F5, SERPINC1
5hirugen459.0F2, F5, SERPINC1
6ecarin459.0SERPINC1, F2, F5
7spectrozyme459.0F2, SERPINC1, F5
8rfviii459.0F9, F8, F5
9tranexamic acid45 119.9SERPINC1, F8, F2, F9
10ximelagatran45 119.9F5, SERPINC1, F2
11ancrod458.9F5, SERPINC1, F2
12heparinoids458.8F2, SERPINC1, F5
13argatroban45 119.7F5, SERPINC1, F2
14coumarins458.6F2, F9, APOH, F5
15acenocoumarol45 51 1110.6F2, F5, F9
16coumarin45 3 51 2411.6F9, F2, SERPINC1, F5
17danaparoid458.6F2, SERPINC1, PF4, F5
18bivalirudin45 119.6F5, F2, SERPINC1
19protamine sulfate458.5F2, F5, SERPINC1, PF4
20cardiolipin45 119.5F2, APOH, F8, F5
21gamma-carboxyglutamic acid458.4F2, F5, PF4, F9
22protamine458.4SERPINC1, PF4, F5, F2
23dextran sulfate458.4PF4, F5, F9, APOH, SERPINC1
24prostacyclin458.2F8, F5, PF4, SERPINC1, APOH
25pge1458.2F5, APOH, PF4, F2
26polyacrylamide458.2ARSA, F8, APOH, F9, F5
27acetaminophen45 3 51 24 1112.2F5, F2, F9, F8
28kaolin458.2F2, F5, F8, APOH, F9
29phosphatidylethanolamine45 119.1APOH, F5, F8, F9, F2
30fondaparinux458.1PF4, F9, F2, SERPINC1, F5
31ristocetin458.1F2, F9, SERPINC1, F8, F5
32desmopressin45 61 29 1111.1SERPINC1, F9, F2, F8, F5
33dermatan sulfate458.1F9, SERPINC1, PF4, F5, F2
34aprotinin45 119.1F5, F2, F9, SERPINC1, PF4
35phosphatidylserine45 29 1110.0F5, F2, F9, F8, APOH
36phosphatidylcholine458.0F2, F9, APOH, F8, F5
37polyethylene glycol458.0F8, F2, PF4, SERPINC1, F5
38polysaccharide458.0ARSA, F8, PF4, SERPINC1, F5
39kininogen457.8F5, SERPINC1, PF4, F2, F9, APOH
40homocysteine45 248.8F5, F9, F2, APOH, SERPINC1, F8
41aspirin45 51 29 2410.7APOH, F2, F5, F8, PF4, SERPINC1
42hirudin457.6F2, F9, SERPINC1, PF4, F5, F8
43lactate457.6F5, ARSA, F8, PF4, APOH, F2
44citrate457.6F2, SERPINC1, F5, PF4, F8, F9
45phospholipid457.4F8, APOH, F5, F9, F2
46warfarin45 51 24 1110.3APOH, F2, F5, F8, F9, PF4
47fibrinogen457.2APOH, F5, SERPINC1, F8, PF4, F9
48heparin45 29 24 1110.2F8, SERPINC1, APOH, F2, PF4, F5
49alanine457.1ARSA, F8, F5, F9, F2, PF4
50creatinine456.8F2, F5, F8, SERPINC1, APOH, F9

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:0057889.0ARSA, F9, F2
2platelet alpha granule lumenGO:0310938.5F5, F8, PF4
3extracellular regionGO:0055766.9F2, F9, SERPINC1, PF4, F8, F5
4extracellular spaceGO:0056156.5PF4, F8, F5, ARSA, SERPINC1, APOH

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fibrinolysisGO:0519189.6APOH, F2
2negative regulation of angiogenesisGO:0165259.6APOH, PF4
3positive regulation of blood coagulationGO:0301949.5F2, APOH
4peptidyl-glutamic acid carboxylationGO:0171879.5F2, F9
5acute-phase responseGO:0069539.0F2, F8
6post-translational protein modificationGO:0436878.9ARSA, F9, F2
7platelet degranulationGO:0025768.8PF4, F8, F5
8blood coagulation, intrinsic pathwayGO:0075978.8F8, APOH, F2, F9
9platelet activationGO:0301688.2PF4, F8, F5, F2
10blood coagulationGO:0075967.4F2, SERPINC1, PF4, F8, F5, F9

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:0055079.1F5, F8
2heparin bindingGO:0082018.8APOH, SERPINC1, PF4, CECR1
3serine-type endopeptidase activityGO:0042527.8F5, F2, F9, F8

Products for genes affiliated with Sneddon Syndrome

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  • Antibodies
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  • Lysates
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Sources for Sneddon Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet