MCID: SND002
MIFTS: 59

Sneddon Syndrome malady

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

Summaries for Sneddon Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:48 182410

Aliases & Classifications for Sneddon Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 36MeSH, 59SNOMED-CT, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
sneddon syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

sneddon syndrome 9 44 46 50 48 63
livedo reticularis and cerebrovascular accidents 44 50
idiopathic livedo reticularis with systemic involvement 9
cerebro-vascular lesions and livedo reticularis 44
livedo racemosa and cerebrovascular accidents 50
ehrmann-sneddon syndrome 50
sneddon's syndrome 44


External Ids:

Disease Ontology9 DOID:13096
MeSH36 D018860
OMIM48 182410
ICD10 via Orphanet27 I77.8
SNOMED-CT59 238776001
SNOMED-CT via Orphanet60 238776001
UMLS via Orphanet64 C0282492
MESH via Orphanet37 D018860

Related Diseases for Sneddon Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

182410

Clinical features from OMIM:

182410

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

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Anatomical Context for Sneddon Syndrome

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34MalaCards
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MalaCards organs/tissues related to Sneddon Syndrome:

34
Skin, Heart, Brain, Bone, Smooth muscle

Animal Models for Sneddon Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Sneddon Syndrome:

38
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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Sources:
53PubMed
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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, 16Gene 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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Sources:
51PathCards, 13EMD Millipore, 56Reactome, 52PharmGKB, 39NCBI BioSystems Database, 54QIAGEN, 31KEGG, 55R&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 Pathway39
Complement and Coagulation Cascades39
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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46Novoseek, 12DrugBank, 52PharmGKB, 3BitterDB, 25HMDB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Sneddon Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 147)
idCompoundScoreTop Affiliating Genes
1polybrene469.3PF4, SERPINC1, F2
2fibrinopeptide a469.2SERPINC1, F2, PF4
3organon469.2SERPINC1, F9, F2
4inogatran469.0F2, F5, SERPINC1
5hirugen469.0F2, F5, SERPINC1
6ecarin469.0SERPINC1, F2, F5
7spectrozyme469.0F2, SERPINC1, F5
8rfviii469.0F9, F8, F5
9tranexamic acid46 129.9SERPINC1, F8, F2, F9
10ximelagatran46 129.9F5, SERPINC1, F2
11ancrod468.9F5, SERPINC1, F2
12heparinoids468.8F2, SERPINC1, F5
13argatroban46 129.7F5, SERPINC1, F2
14coumarins468.6F2, F9, APOH, F5
15acenocoumarol46 52 1210.6F2, F5, F9
16coumarin46 3 52 2511.6F9, F2, SERPINC1, F5
17danaparoid468.6F2, SERPINC1, PF4, F5
18bivalirudin46 129.6F5, F2, SERPINC1
19protamine sulfate468.5F2, F5, SERPINC1, PF4
20cardiolipin46 129.5F2, APOH, F8, F5
21gamma-carboxyglutamic acid468.4F2, F5, PF4, F9
22protamine468.4SERPINC1, PF4, F5, F2
23dextran sulfate468.4PF4, F5, F9, APOH, SERPINC1
24prostacyclin468.2F8, F5, PF4, SERPINC1, APOH
25pge1468.2F5, APOH, PF4, F2
26polyacrylamide468.2ARSA, F8, APOH, F9, F5
27acetaminophen46 3 52 25 1212.2F5, F2, F9, F8
28kaolin468.2F2, F5, F8, APOH, F9
29phosphatidylethanolamine46 129.1APOH, F5, F8, F9, F2
30fondaparinux468.1PF4, F9, F2, SERPINC1, F5
31ristocetin468.1F2, F9, SERPINC1, F8, F5
32desmopressin46 62 30 1211.1SERPINC1, F9, F2, F8, F5
33dermatan sulfate468.1F9, SERPINC1, PF4, F5, F2
34aprotinin46 129.1F5, F2, F9, SERPINC1, PF4
35phosphatidylserine46 30 1210.0F5, F2, F9, F8, APOH
36phosphatidylcholine468.0F2, F9, APOH, F8, F5
37polyethylene glycol468.0F8, F2, PF4, SERPINC1, F5
38polysaccharide468.0ARSA, F8, PF4, SERPINC1, F5
39kininogen467.8F5, SERPINC1, PF4, F2, F9, APOH
40homocysteine46 258.8F5, F9, F2, APOH, SERPINC1, F8
41aspirin46 52 30 2510.7APOH, F2, F5, F8, PF4, SERPINC1
42hirudin467.6F2, F9, SERPINC1, PF4, F5, F8
43lactate467.6F5, ARSA, F8, PF4, APOH, F2
44citrate467.6F2, SERPINC1, F5, PF4, F8, F9
45phospholipid467.4F8, APOH, F5, F9, F2
46warfarin46 52 25 1210.3APOH, F2, F5, F8, F9, PF4
47fibrinogen467.2APOH, F5, SERPINC1, F8, PF4, F9
48heparin46 30 25 1210.2F8, SERPINC1, APOH, F2, PF4, F5
49alanine467.1ARSA, F8, F5, F9, F2, PF4
50creatinine466.8F2, F5, F8, SERPINC1, APOH, F9

GO Terms for genes affiliated with Sneddon Syndrome

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet