MCID: SND002
MIFTS: 54

Sneddon Syndrome malady

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

Aliases & Classifications for Sneddon Syndrome

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Sources:
46OMIM, 8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 61UMLS, 56SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Sneddon Syndrome:

Name: Sneddon Syndrome 46 8 42 21 44 48 61
Livedo Reticularis and Cerebrovascular Accidents 42 48
Livedo Racemosa and Cerebrovascular Accidents 42 48
Childhood-Onset Polyarteritis Nodosa 42 21
Adenosine Deaminase 2 Deficiency 42 21
Ehrmann-Sneddon Syndrome 42 48
 
Ada2 Deficiency 42 21
Dada2 42 21
Idiopathic Livedo Reticularis with Systemic Involvement 8
Cerebro-Vascular Lesions and Livedo Reticularis 42
Sneddon's Syndrome 42
Deficiency of Ada2 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
sneddon syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult


External Ids:

OMIM46 182410
Disease Ontology8 DOID:13096
MeSH33 D018860
Orphanet48 820
SNOMED-CT56 238776001
MESH via Orphanet34 D018860
ICD10 via Orphanet26 I77.8
UMLS via Orphanet62 C0282492

Summaries for Sneddon Syndrome

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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 based summary: 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 behavioral abnormality, cutis marmorata and migraine. 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 organon 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.

Genetics Home Reference:21 Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues, particularly the blood vessels (vasculitis). Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family.

OMIM:46 Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade... (182410) more...

Related Diseases for Sneddon Syndrome

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

(show top 50)    (show all 102)
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
12polyarteritis nodosa, childhood-onset10.5
13purpura10.5SERPINC1
14coumarin resistance10.4F9
15cerebritis10.4
16vasculitis due to ada2 deficiency10.4
17cardiac tamponade10.4F8
18polyarteritis nodosa10.4CECR1
19retinitis10.4
20hypersplenism10.4F2
21thrombophlebitis10.3APOH, F8
22branch retinal artery occlusion10.3F5
23raynaud disease10.3APOH, PF4
24factor xiii deficiency10.3F5
25homocysteinemia10.3F5
26patent foramen ovale10.3F5
27thrombotic thrombocytopenic purpura, acquired10.3APOH, F8
28gaucher's disease10.2ARSA, F9
29hemarthrosis10.2F8, F9
30myelofibrosis10.2F8, PF4
31mondor disease10.2F5, APOH
32vitamin k deficiency hemorrhagic disease10.2F2, F8
33post-thrombotic syndrome10.1F5, SERPINC1
34retinal vascular occlusion10.1APOH, F5
35sickle cell disease10.1PF4, F9
36legg-calve-perthes disease10.1SERPINC1, F5
37placental abruption10.1SERPINC1, F5
38sagittal sinus thrombosis10.1SERPINC1, F5
39hepatitis a10.1F8, F2
40bilirubin metabolic disorder10.1F9, F2
41meningococcemia10.1SERPINC1, F5
42galactosemia10.1SERPINC1, F2
43atrial fibrillation10.1F2, PF4
44blood platelet disease10.1SERPINC1, PF4, F8
45homocystinuria10.1F5, SERPINC1
46central retinal artery occlusion10.1
47transient global amnesia10.1
48cranial nerve palsy10.1
49dementia10.1
50vasculitis10.1

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



Diseases related to sneddon syndrome

Symptoms for Sneddon Syndrome

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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

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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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MalaCards organs/tissues related to Sneddon Syndrome:

31
Skin, Brain, Heart, Bone, Smooth muscle

Animal Models for Sneddon Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Sneddon Syndrome:

35
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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Articles related to Sneddon Syndrome:

(show all 42)
idTitleAuthorsYear
1
Cardiac valve degeneration in a patient with Sneddon syndrome. (25479820)
2014
2
Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis. (24513089)
2014
3
Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case. (25341280)
2014
4
Sneddon Syndrome Presenting With Unilateral Third Cranial Nerve Palsy. (24051423)
2013
5
A suicide attempt in a context of bipolar symptoms leading to a diagnosis of Sneddon syndrome. (24026725)
2013
6
Sneddon syndrome associated with Protein S deficiency. (22565458)
2012
7
Transient retinal venous and arterial occlusive events in a case of sneddon syndrome. (25389744)
2012
8
Detection of lupus anticoagulant and successful anticoagulation in familial Sneddon syndrome. (20237126)
2010
9
Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. (20849802)
2010
10
Improvement of neurological symptoms and memory and emotional status in a case of seronegative Sneddon syndrome with cyclophosphamide. (20444540)
2010
11
The Sneddon syndrome. (18541809)
2008
12
Perioperative management of Sneddon syndrome during thyroidectomy. (18929289)
2008
13
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. (18474464)
2008
14
Central retinal vein occlusion as a possible presenting manifestation of Sneddon syndrome. (17895826)
2007
15
Diffuse retinal arterial occlusion, neovascularization, and vitreous hemorrhage as the presenting sign of sneddon syndrome: a 7.5-year angiographic follow-up. (25390485)
2007
16
Mitral valve replacement in a patient with Sneddon syndrome. (16202906)
2005
17
Factor V Leiden mutation in Sneddon syndrome. (12765305)
2003
18
Sneddon syndrome revealing dysfibrinogenemia. (12839611)
2003
19
The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. (12640088)
2003
20
Clotting factor VIII in Sneddon syndrome]. (14598591)
2003
21
Therapy of Sneddon syndrome. (12373028)
2002
22
Sneddon syndrome with multiple cerebral infarctions 12 years after the onset of livedo vasculitis: a possible involvement of platelet activation. (11603394)
2001
23
The mystery of Sneddon syndrome: relationship with antiphospholipid syndrome and systemic lupus erythematosus. (10968900)
2000
24
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. (11042423)
2000
25
Sneddon syndrome and dementia. (10593361)
1999
26
Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. (10424203)
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
The natural course of cerebral lesions in Sneddon syndrome. (9006414)
1997
30
Familial Binswanger-type encephalopathy with Sneddon syndrome]. (8752690)
1996
31
Sneddon syndrome. (7640198)
1995
32
Cerebral blood flow in Sneddon syndrome. (8113897)
1994
33
General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome). (1947326)
1991
34
Sneddon syndrome: cerebral perfusion studies by Tc99m HM-PAO and SPECT. (2013522)
1991
35
Sneddon syndrome presenting with hemicranic attacks: a case report. (1815538)
1991
36
Sneddon syndrome: a diagnosis you do not want to miss. (2121654)
1990
37
Cutaneous thrombosis, cerebrovascular thrombosis, and lupus anticoagulant--the Sneddon syndrome. Report of 10 cases. (2109736)
1990
38
Sneddon syndrome: CT, arteriography, and MR imaging. (2910928)
1989
39
Sneddon syndrome: another mendelian etiology of stroke. (3239961)
1988
40
Simultaneous bilateral central retinal arterial occlusion in a patient with Sneddon syndrome: case history. (3826753)
1987
41
Generalized racemose livedo with cerebrovascular lesions (Sneddon syndrome): an occlusive arteriolopathy due to proliferation and migration of medial smooth muscle cells. (4005168)
1985
42
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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UniProtKB/Swiss-Prot genetic disease variations for Sneddon Syndrome:

63
id Symbol AA change Variation ID SNP ID
1CECR1p.Val119AlaVAR_072562
2CECR1p.Gly142SerVAR_072563

Expression for genes affiliated with Sneddon Syndrome

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Search GEO for disease gene expression data for Sneddon Syndrome.

Pathways for genes affiliated with Sneddon Syndrome

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Pathways related to Sneddon Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0ARSA, F9, F2
2
Show member pathways
8.6PF4, F8, F5
3
Show member pathways
7.7F2, F9, SERPINC1, F8, F5
4
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
7.7F2, F9, SERPINC1, F8, F5
5
Show member pathways
7.2F2, F9, SERPINC1, PF4, F8, F5
6
Show member pathways
7.2F5, F8, PF4, SERPINC1, F9, F2

Compounds for genes affiliated with Sneddon Syndrome

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Compounds related to Sneddon Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 147)
idCompoundScoreTop Affiliating Genes
1polybrene449.3PF4, SERPINC1, F2
2organon449.3F2, F9, SERPINC1
3fibrinopeptide a449.2F2, SERPINC1, PF4
4inogatran449.0F2, F5, SERPINC1
5ecarin449.0SERPINC1, F2, F5
6hirugen449.0F5, SERPINC1, F2
7rfviii449.0F5, F8, F9
8spectrozyme449.0SERPINC1, F5, F2
9hydroxyethyl starch449.0F2, F8, SERPINC1
10tranexamic acid44 119.9F8, SERPINC1, F9, F2
11ancrod448.9SERPINC1, F5, F2
12ximelagatran44 119.9F2, SERPINC1, F5
13heparinoids448.8F2, SERPINC1, F5
14coumarins448.6F5, APOH, F9, F2
15acenocoumarol44 50 1110.6F9, F2, F5
16coumarin44 1 50 2411.6F5, SERPINC1, F9, F2
17danaparoid448.6F5, F2, SERPINC1, PF4
18bivalirudin44 119.6F2, F5, SERPINC1
19protamine sulfate448.5F2, F5, SERPINC1, PF4
20cardiolipin44 119.5F5, F2, APOH, F8
21gamma-carboxyglutamic acid448.4F2, F9, F5, PF4
22protamine448.4F2, F5, PF4, SERPINC1
23dextran sulfate448.4F5, PF4, SERPINC1, APOH, F9
24prostacyclin448.2F5, F8, PF4, APOH, SERPINC1
25pge1448.2PF4, F2, APOH, F5
26polyacrylamide448.2F5, APOH, ARSA, F8, F9
27acetaminophen44 1 50 24 1112.2F8, F5, F9, F2
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 60 28 1111.1SERPINC1, F9, F2, F8, F5
33dermatan sulfate448.1F9, SERPINC1, PF4, F5, F2
34aprotinin44 119.1F5, SERPINC1, F2, F9, PF4
35phosphatidylserine44 28 1110.0F2, F5, F8, APOH, F9
36phosphatidylcholine448.0F2, F9, APOH, F8, F5
37polyethylene glycol448.0F2, PF4, F8, F5, SERPINC1
38polysaccharide448.0F8, ARSA, F5, SERPINC1, PF4
39kininogen447.8F5, SERPINC1, PF4, F2, F9, APOH
40homocysteine44 248.8F5, F9, F2, APOH, SERPINC1, F8
41aspirin44 50 28 2410.7F8, F5, PF4, SERPINC1, F2, APOH
42hirudin447.6F2, F9, SERPINC1, PF4, F5, F8
43lactate447.6F2, F5, F8, PF4, APOH, ARSA
44citrate447.6SERPINC1, F2, F5, PF4, F8, F9
45phospholipid447.4F9, F5, F8, F2, APOH
46warfarin44 50 24 1110.3APOH, F2, F5, F8, F9, PF4
47fibrinogen447.2APOH, F5, SERPINC1, F8, PF4, F9
48heparin44 28 24 1110.2F9, APOH, F5, SERPINC1, PF4, F8
49alanine447.1F5, PF4, SERPINC1, ARSA, F2, F9
50creatinine446.8F2, F5, ARSA, PF4, SERPINC1, APOH

GO Terms for genes affiliated with Sneddon Syndrome

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Cellular components related to Sneddon Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.0ARSA, F9, F2
2platelet alpha granule lumenGO:00310938.5PF4, F8, F5
3extracellular regionGO:00055766.9F2, F9, SERPINC1, PF4, F8, F5
4extracellular spaceGO:00056156.5ARSA, F5, F8, CECR1, PF4, SERPINC1

Biological processes related to Sneddon Syndrome according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fibrinolysisGO:00519189.6APOH, F2
2negative regulation of angiogenesisGO:00165259.6PF4, APOH
3positive regulation of blood coagulationGO:00301949.5APOH, F2
4peptidyl-glutamic acid carboxylationGO:00171879.5F9, F2
5acute-phase responseGO:00069539.0F8, F2
6post-translational protein modificationGO:00436878.9F2, F9, ARSA
7platelet degranulationGO:00025768.8PF4, F8, F5
8blood coagulation, intrinsic pathwayGO:00075978.8F8, APOH, F9, F2
9platelet activationGO:00301688.2F5, F8, PF4, F2
10blood coagulationGO:00075967.4F2, F9, SERPINC1, PF4, F8, F5

Molecular functions related to Sneddon Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.1F5, F8
2heparin bindingGO:00082018.8CECR1, PF4, SERPINC1, APOH
3serine-type endopeptidase activityGO:00042527.8F2, F9, F8, F5

Sources for Sneddon Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet