MCID: SND002
MIFTS: 60

Sneddon Syndrome malady

Rare diseases, Neuronal diseases, Cardiovascular diseases, Bone diseases, Skin diseases categories
Download this MalaCard

Summaries for Sneddon Syndrome

About this section


Fully expand this MalaCard
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 based summary: Sneddon Syndrome, also known as idiopathic livedo reticularis with systemic involvement, is related to retinal artery occlusion 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 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, brain and heart, and related mouse phenotypes are mortality/aging and hematopoietic system.

Description from OMIM:46 182410

Aliases & Classifications for Sneddon Syndrome

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Sneddon Syndrome, Aliases & Descriptions:

Name: Sneddon Syndrome 8 42 46 44 48 62
Idiopathic Livedo Reticularis with Systemic Involvement 8 62
Livedo Reticularis and Cerebrovascular Accidents 42 48
Cerebro-Vascular Lesions and Livedo Reticularis 42
 
Livedo Racemosa and Cerebrovascular Accidents 48
Ehrmann-Sneddon Syndrome 48
Sneddon's Syndrome 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:13096
MeSH34 D018860
OMIM46 182410
SNOMED-CT57 238776001
MESH via Orphanet35 D018860
ICD10 via Orphanet26 I77.8
UMLS via Orphanet63 C0282492

Related Diseases for Sneddon Syndrome

About this section

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

(show top 50)    (show all 98)
idRelated DiseaseScoreTop Affiliating Genes
1retinal artery occlusion31.2APOH
2central retinal vein occlusion30.4F5, APOH
3retinal vein occlusion30.1APOH, SERPINC1, F5
4systemic lupus erythematosus30.0F8, APOH, F2
5dysfibrinogenemia29.9F2, SERPINC1, F5
6lupus erythematosus29.7F5, SERPINC1, APOH, F2
7protein s deficiency29.4F5, F8, SERPINC1, APOH, F2
8antiphospholipid syndrome29.4F2, APOH, SERPINC1, PF4, F8, F5
9eclampsia10.5SERPINC1
10intermediate coronary syndrome10.5SERPINC1
11coronary thrombosis10.5SERPINC1
12purpura10.5SERPINC1
13warfarin sensitivity10.4F9
14cerebritis10.4
15cardiac tamponade10.4F8
16polyarteritis nodosa10.4CECR1
17retinitis10.4
18hypersplenism10.4F2
19thrombophlebitis10.3APOH, F8
20branch retinal artery occlusion10.3F5
21factor xii deficiency10.3F5
22homocysteinemia10.3F5
23patent foramen ovale10.3F5
24thrombotic thrombocytopenic purpura, acquired10.3APOH, F8
25gaucher's disease10.2ARSA, F9
26hemarthrosis10.2F8, F9
27myelofibrosis10.2F8, PF4
28mondor disease10.2F5, APOH
29vitamin k deficiency hemorrhagic disease10.2F2, F8
30post-thrombotic syndrome10.2F5, SERPINC1
31sickle cell disease10.2PF4, F9
32retinal vascular occlusion10.2APOH, F5
33legg-calve-perthes disease10.2SERPINC1, F5
34placental abruption10.1SERPINC1, F5
35sagittal sinus thrombosis10.1SERPINC1, F5
36hepatitis a10.1F8, F2
37bilirubin metabolic disorder10.1F9, F2
38meningococcemia10.1SERPINC1, F5
39galactosemia10.1SERPINC1, F2
40blood platelet disease10.1SERPINC1, PF4, F8
41homocystinuria10.1F5, SERPINC1
42combined factor v and viii deficiency10.1F8, F5
43arthropathy10.1F8, F9
44central retinal artery occlusion10.1
45transient global amnesia10.1
46cranial nerve palsy10.1
47dementia10.1
48vasculitis10.1
49angiomatosis10.1
50thrombocytosis10.1PF4, SERPINC1, F2

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



Diseases related to sneddon syndrome

Symptoms for Sneddon Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

182410

Clinical features from OMIM:

182410

Symptoms:

48 (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

HPO human phenotypes related to Sneddon Syndrome:

(show all 34)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 cutis marmorata hallmark (90%) HP:0000965
3 migraine hallmark (90%) HP:0002076
4 vertigo hallmark (90%) HP:0002321
5 memory impairment hallmark (90%) HP:0002354
6 cerebral ischemia hallmark (90%) HP:0002637
7 hypertension typical (50%) HP:0000822
8 acrocyanosis typical (50%) HP:0001063
9 muscle weakness typical (50%) HP:0001324
10 neurological speech impairment typical (50%) HP:0002167
11 developmental regression typical (50%) HP:0002376
12 hemiplegia/hemiparesis typical (50%) HP:0004374
13 amaurosis fugax typical (50%) HP:0100576
14 nephropathy occasional (7.5%) HP:0000112
15 seizures occasional (7.5%) HP:0001250
16 tremor occasional (7.5%) HP:0001337
17 chorea occasional (7.5%) HP:0002072
18 neurological speech impairment occasional (7.5%) HP:0002167
19 intracranial hemorrhage occasional (7.5%) HP:0002170
20 autoimmunity occasional (7.5%) HP:0002960
21 autosomal dominant inheritance HP:0000006
22 hypertension HP:0000822
23 cutis marmorata HP:0000965
24 seizures HP:0001250
25 dysarthria HP:0001260
26 mental deterioration HP:0001268
27 stroke HP:0001297
28 tremor HP:0001337
29 hemiplegia HP:0002301
30 headache HP:0002315
31 antiphospholipid antibody positivity HP:0003613
32 progressive disorder HP:0003676
33 sporadic HP:0003745
34 facial palsy HP:0010628

Drugs & Therapeutics for Sneddon Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Sneddon Syndrome

Search NIH Clinical Center for Sneddon Syndrome

Genetic Tests for Sneddon Syndrome

About this section

Anatomical Context for Sneddon Syndrome

About this section

MalaCards organs/tissues related to Sneddon Syndrome:

32
Skin, Brain, Heart, Bone, Smooth muscle

Animal Models for Sneddon Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Sneddon Syndrome:

36
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

About this section

Articles related to Sneddon Syndrome:

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

Variations for Sneddon Syndrome

About this section

Expression for genes affiliated with Sneddon Syndrome

About this section
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

About this section

Pathways related to Sneddon Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SERPINC1, F9
29.6F8, APOH
3
Show member pathways
9.0ARSA, F9, F2
4
Show member pathways
8.6PF4, F8, F5
5
Show member pathways
7.7F2, F9, SERPINC1, F8, F5
6
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
7.7F2, F9, SERPINC1, F8, F5
7
Show member pathways
7.2F2, F9, SERPINC1, PF4, F8, F5
8
Show member pathways
7.2F5, F8, PF4, SERPINC1, F9, F2

Compounds for genes affiliated with Sneddon Syndrome

About this section

Compounds related to Sneddon Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 147)
idCompoundScoreTop Affiliating Genes
1polybrene449.3PF4, SERPINC1, F2
2fibrinopeptide a449.2SERPINC1, F2, PF4
3organon449.2SERPINC1, F9, F2
4inogatran449.0F2, F5, SERPINC1
5hirugen449.0F2, F5, SERPINC1
6ecarin449.0SERPINC1, F2, F5
7spectrozyme449.0F2, SERPINC1, F5
8rfviii449.0F9, F8, F5
9tranexamic acid44 119.9SERPINC1, F8, F2, F9
10ximelagatran44 119.9F5, SERPINC1, F2
11ancrod448.9F5, SERPINC1, F2
12heparinoids448.8F2, SERPINC1, F5
13argatroban44 119.7F5, SERPINC1, F2
14coumarins448.6F2, F9, APOH, F5
15acenocoumarol44 50 1110.6F2, F5, F9
16coumarin44 2 50 2411.6F9, F2, SERPINC1, F5
17danaparoid448.6F2, SERPINC1, PF4, F5
18bivalirudin44 119.6F5, F2, SERPINC1
19protamine sulfate448.5F2, F5, SERPINC1, PF4
20cardiolipin44 119.5F2, APOH, F8, F5
21gamma-carboxyglutamic acid448.4F2, F5, PF4, F9
22protamine448.4SERPINC1, PF4, F5, F2
23dextran sulfate448.4PF4, F5, F9, APOH, SERPINC1
24prostacyclin448.2F8, F5, PF4, SERPINC1, APOH
25pge1448.2F5, APOH, PF4, F2
26polyacrylamide448.2ARSA, F8, APOH, F9, F5
27acetaminophen44 2 50 24 1112.2F5, F2, F9, F8
28kaolin448.2F2, F5, F8, APOH, F9
29phosphatidylethanolamine44 119.1APOH, F5, F8, F9, F2
30fondaparinux448.1PF4, F9, F2, SERPINC1, F5
31ristocetin448.1F2, F9, SERPINC1, F8, F5
32desmopressin44 61 28 1111.1SERPINC1, F9, F2, F8, F5
33dermatan sulfate448.1F9, SERPINC1, PF4, F5, F2
34aprotinin44 119.1F5, F2, F9, SERPINC1, PF4
35phosphatidylserine44 28 1110.0F5, F2, F9, F8, APOH
36phosphatidylcholine448.0F2, F9, APOH, F8, F5
37polyethylene glycol448.0F8, F2, PF4, SERPINC1, F5
38polysaccharide448.0ARSA, F8, PF4, SERPINC1, F5
39kininogen447.8F5, SERPINC1, PF4, F2, F9, APOH
40homocysteine44 248.8F5, F9, F2, APOH, SERPINC1, F8
41aspirin44 50 28 2410.7APOH, F2, F5, F8, PF4, SERPINC1
42hirudin447.6F2, F9, SERPINC1, PF4, F5, F8
43lactate447.6F5, ARSA, F8, PF4, APOH, F2
44citrate447.6F2, SERPINC1, F5, PF4, F8, F9
45phospholipid447.4F8, APOH, F5, F9, F2
46warfarin44 50 24 1110.3APOH, F2, F5, F8, F9, PF4
47fibrinogen447.2APOH, F5, SERPINC1, F8, PF4, F9
48heparin44 28 24 1110.2F8, SERPINC1, APOH, F2, PF4, F5
49alanine447.1ARSA, F8, F5, F9, F2, PF4
50creatinine446.8F2, F5, F8, SERPINC1, APOH, F9

GO Terms for genes affiliated with Sneddon Syndrome

About this section

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:0310938.5PF4, F8, F5
3extracellular regionGO:0055766.9F2, F9, SERPINC1, PF4, F8, F5
4extracellular spaceGO:0056156.5ARSA, F5, F8, CECR1, PF4, SERPINC1

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:0165259.6PF4, APOH
3positive regulation of blood coagulationGO:0301949.5APOH, F2
4peptidyl-glutamic acid carboxylationGO:0171879.5F9, F2
5acute-phase responseGO:0069539.0F8, F2
6post-translational protein modificationGO:0436878.9F2, F9, ARSA
7platelet degranulationGO:0025768.8PF4, F8, F5
8blood coagulation, intrinsic pathwayGO:0075978.8F8, APOH, F9, F2
9platelet activationGO:0301688.2F5, F8, PF4, F2
10blood coagulationGO:0075967.4F2, F9, SERPINC1, PF4, F8, F5

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

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

Products for genes affiliated with Sneddon Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Sneddon Syndrome

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet