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:
45OMIM, 9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Sneddon Syndrome, Aliases & Descriptions:

Name: Sneddon Syndrome 45 9 41 21 43 47 60
Livedo Reticularis and Cerebrovascular Accidents 41 47
Livedo Racemosa and Cerebrovascular Accidents 41 47
Childhood-Onset Polyarteritis Nodosa 41 21
Adenosine Deaminase 2 Deficiency 41 21
Ehrmann-Sneddon Syndrome 41 47
 
Ada2 Deficiency 41 21
Dada2 41 21
Idiopathic Livedo Reticularis with Systemic Involvement 9
Cerebro-Vascular Lesions and Livedo Reticularis 41
Sneddon's Syndrome 41
Deficiency of Ada2 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
sneddon syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult


External Ids:

OMIM45 182410
Disease Ontology9 DOID:13096
MeSH33 D018860
Orphanet47 820
SNOMED-CT55 238776001
MESH via Orphanet34 D018860
ICD10 via Orphanet26 I77.8
UMLS via Orphanet61 C0282492

Summaries for Sneddon Syndrome

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NIH Rare Diseases:41 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 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.

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:45 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:

 47 (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:

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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:

62
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
1polybrene439.3PF4, SERPINC1, F2
2fibrinopeptide a439.2SERPINC1, F2, PF4
3organon439.2SERPINC1, F9, F2
4inogatran439.0F2, F5, SERPINC1
5hirugen439.0F2, F5, SERPINC1
6ecarin439.0SERPINC1, F2, F5
711-dehydrothromboxane b2439.0PF4, APOH, F2
8spectrozyme439.0F2, SERPINC1, F5
9rfviii439.0F9, F8, F5
10tranexamic acid43 129.9SERPINC1, F8, F2, F9
11ximelagatran43 129.9F5, SERPINC1, F2
12ancrod438.9F5, SERPINC1, F2
13heparinoids438.8F2, SERPINC1, F5
14coumarins438.6F2, F9, APOH, F5
15acenocoumarol43 49 1210.6F2, F5, F9
16coumarin43 2 49 2411.6F9, F2, SERPINC1, F5
17danaparoid438.6F2, SERPINC1, PF4, F5
18bivalirudin43 129.6F5, F2, SERPINC1
19protamine sulfate438.5F2, F5, SERPINC1, PF4
20cardiolipin43 129.5F2, APOH, F8, F5
21gamma-carboxyglutamic acid438.4F2, F5, PF4, F9
22protamine438.4SERPINC1, PF4, F5, F2
23dextran sulfate438.4PF4, F5, F9, APOH, SERPINC1
24prostacyclin438.2F8, F5, PF4, SERPINC1, APOH
25pge1438.2F5, APOH, PF4, F2
26polyacrylamide438.2ARSA, F8, APOH, F9, F5
27acetaminophen43 2 49 24 1212.2F5, F2, F9, F8
28kaolin438.2F2, F5, F8, APOH, F9
29phosphatidylethanolamine43 129.1APOH, F5, F8, F9, F2
30fondaparinux438.1PF4, F9, F2, SERPINC1, F5
31ristocetin438.1F2, F9, SERPINC1, F8, F5
32desmopressin43 59 28 1211.1SERPINC1, F9, F2, F8, F5
33dermatan sulfate438.1F9, SERPINC1, PF4, F5, F2
34aprotinin43 129.1F5, F2, F9, SERPINC1, PF4
35phosphatidylserine43 28 1210.0F5, F2, F9, F8, APOH
36phosphatidylcholine438.0F2, F9, APOH, F8, F5
37polyethylene glycol438.0F8, F2, PF4, SERPINC1, F5
38polysaccharide438.0ARSA, F8, PF4, SERPINC1, F5
39kininogen437.8F5, SERPINC1, PF4, F2, F9, APOH
40homocysteine43 248.8F5, F9, F2, APOH, SERPINC1, F8
41aspirin43 49 28 2410.7APOH, F2, F5, F8, PF4, SERPINC1
42hirudin437.6F2, F9, SERPINC1, PF4, F5, F8
43lactate437.6F5, ARSA, F8, PF4, APOH, F2
44citrate437.6F2, SERPINC1, F5, PF4, F8, F9
45phospholipid437.4F8, APOH, F5, F9, F2
46warfarin43 49 24 1210.3APOH, F2, F5, F8, F9, PF4
47fibrinogen437.2APOH, F5, SERPINC1, F8, PF4, F9
48heparin43 28 24 1210.2F8, SERPINC1, APOH, F2, PF4, F5
49alanine437.1ARSA, F8, F5, F9, F2, PF4
50creatinine436.8F2, F5, F8, SERPINC1, APOH, F9

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:00310938.5F5, F8, PF4
3extracellular regionGO:00055766.9F2, F9, SERPINC1, PF4, F8, F5
4extracellular spaceGO:00056156.5PF4, F8, F5, ARSA, SERPINC1, APOH

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:00165259.6APOH, PF4
3positive regulation of blood coagulationGO:00301949.5F2, APOH
4peptidyl-glutamic acid carboxylationGO:00171879.5F2, F9
5acute-phase responseGO:00069539.0F2, F8
6post-translational protein modificationGO:00436878.9ARSA, F9, F2
7platelet degranulationGO:00025768.8PF4, F8, F5
8blood coagulation, intrinsic pathwayGO:00075978.8F8, APOH, F2, F9
9platelet activationGO:00301688.2PF4, F8, F5, F2
10blood coagulationGO:00075967.4F2, SERPINC1, PF4, F8, F5, F9

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

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

Products for genes affiliated with Sneddon Syndrome

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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet