MCID: SND002
MIFTS: 44

Sneddon Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Bone diseases, Skin diseases

Aliases & Classifications for Sneddon Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Sneddon Syndrome:

Name: Sneddon Syndrome 51 11 47 53 69 49 38 13 67
Idiopathic Livedo Reticularis with Systemic Involvement 11 26
Livedo Reticularis-Cerebrovascular Accident Syndrome 47 53
Livedo Racemosa-Cerebrovascular Accident Syndrome 47 53
Livedo Reticularis and Cerebrovascular Accidents 47 69
 
Ehrmann-Sneddon Syndrome 47 53
Cerebro-Vascular Lesions and Livedo Reticularis 47
Livedo Racemosa and Cerebrovascular Accidents 47
Sneddon's Syndrome 47
Sndds 69

Characteristics:

Orphanet epidemiological data:

53
sneddon syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult

HPO:

63
sneddon syndrome:
Inheritance: autosomal dominant inheritance, sporadic
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM51 182410
Disease Ontology11 DOID:13096
MeSH38 D018860
Orphanet53 ORPHA820
SNOMED-CT61 238776001
MESH via Orphanet39 D018860
UMLS via Orphanet68 C0282492
ICD10 via Orphanet30 I77.8
MedGen36 C0282492

Summaries for Sneddon Syndrome

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NIH Rare Diseases:47 Sneddon syndrome is a rare, progressive condition that affects blood vessels. It is primarily characterized by livedo reticularis (net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include transient ischemic attacks (mini-strokes) and strokes; headache; dizziness; high blood pressure; and heart disease. Reduced blood flow to the brain may cause reduced intellectual ability, memory loss, personality changes, and/or other neurological symptoms. The cause of Sneddon syndrome is often unknown, but it is sometimes associated with an autoimmune disease. Most cases are sporadic but some familial cases with autosomal dominant inheritance have been reported. Treatment usually involves anticoagulation (blood-thinning) with warfarin, and/or the use of other medications. Last updated: 11/15/2016

MalaCards based summary: Sneddon Syndrome, also known as idiopathic livedo reticularis with systemic involvement, is related to adenosine deaminase 2 deficiency and central gyrate choroidal dystrophy, 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 Gamma carboxylation, hypusine formation and arylsulfatase activation and Complement and coagulation cascades. Affiliated tissues include skin, heart and brain.

OMIM:51 Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade... (182410) more...

UniProtKB/Swiss-Prot:69 Sneddon syndrome: A systemic non-inflammatory thrombotic vasculopathy characterized by the association of livedo racemosa, and in some cases livedo reticularis, with cerebrovascular disease. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting the legs, the arms, the buttocks and the trunk; livedo reticularis is limited to the extremities and is visible only in the cold. Cerebrovascular features include recurrent transient ischemic attacks, infarcts, and rarely spinal strokes or intracranial or subarachnoid hemorrhages. Headache and vertigo may precede the onset of livedo racemosa and cerebrovascular manifestations by several years. Rare neurologic symptoms include seizures, chorea, or myelopathies.

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 92)
idRelated DiseaseScoreTop Affiliating Genes
1adenosine deaminase 2 deficiency11.0
2central gyrate choroidal dystrophy10.1APOH, CECR1
3angioedema, hereditary, type iii10.1APOH, SERPINC1
4cerebritis10.0
5choroid necrotic melanoma10.0APOH, SERPINC1
6ariboflavinosis9.9F2, SERPINC1
7retinitis9.9
8myiasis9.9F2, SERPINC1
9cavernous hemangioma of face9.9F2, SERPINC1
10marek disease9.9F2, SERPINC1
11ovarian gonadoblastoma9.9F2, SERPINC1
12thyroid hyalinizing trabecular adenoma9.9F2, SERPINC1
13milk allergy9.9F2, SERPINC1
14hypertensive heart disease9.9F2, SERPINC1
15spleen cancer9.9F2, SERPINC1
16dmd-related dilated cardiomyopathy9.9F2, SERPINC1
17preeclampsia/eclampsia 19.9APOH, SERPINC1
18lateral cystocele9.9F2, SERPINC1
19posterolateral myocardial infarction9.9F2, SERPINC1
20lymphatic system cancer9.9F2, SERPINC1
21polyhydramnios9.9F2, SERPINC1
22histoplasmosis9.9F2, SERPINC1
23functional colonic disease9.9F2, SERPINC1
24lujo hemorrhagic fever9.9F2, SERPINC1
25perichondritis of auricle9.9F2, SERPINC1
26angular blepharoconjunctivitis9.9F2, SERPINC1
27anterior foramen magnum meningioma9.9F2, SERPINC1
28pseudohermaphroditism9.9F2, SERPINC1
29dermatitis9.9F2, SERPINC1
30lip carcinoma in situ9.9F2, SERPINC1
31unicentric castleman disease9.8APOH, F2
32classic congenital lipoid adrenal hyperplasia due to star deficency9.8APOH, F2
33exophthalmic ophthalmoplegia9.8F2, SERPINC1
34platelet storage pool deficiency9.8F2, SERPINC1
35cholesterol embolism9.8APOH, F2
36alpha-2-plasmin inhibitor deficiency9.8F2, SERPINC1
37spinocerebellar ataxia 279.8F2, SERPINC1
38pes anserinus tendinitis or bursitis9.8F2, SERPINC1
39elejalde disease9.8APOH, F2
40antiphospholipid syndrome9.8
41retinal artery occlusion9.8
42microcytic anemia9.8F2, SERPINC1
43focal epilepsy9.8F2, SERPINC1
44noma9.8APOH, F2
45ovarian insufficiency, familial9.8F2, SERPINC1
46c1 inhibitor deficiency9.8APOH, F2
47angina pectoris9.7F2, SERPINC1
48borderline glaucoma9.7F2, SERPINC1
49factor v deficiency9.7APOH, F2
50frontal sinus cancer9.6F2, SERPINC1

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

Human phenotypes related to Sneddon Syndrome:

 63 53 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0000708
2 cutis marmorata63 53 hallmark (90%) Very frequent (99-80%) HP:0000965
3 migraine63 53 hallmark (90%) Very frequent (99-80%) HP:0002076
4 vertigo63 53 hallmark (90%) Very frequent (99-80%) HP:0002321
5 memory impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002354
6 cerebral ischemia63 hallmark (90%) HP:0002637
7 visual impairment63 typical (50%) HP:0000505
8 hypertension63 53 typical (50%) Frequent (79-30%) HP:0000822
9 acrocyanosis63 typical (50%) HP:0001063
10 muscle weakness63 53 typical (50%) Frequent (79-30%) HP:0001324
11 neurological speech impairment63 typical (50%) HP:0002167
12 developmental regression63 53 typical (50%) Frequent (79-30%) HP:0002376
13 hemiplegia/hemiparesis63 typical (50%) HP:0004374
14 amaurosis fugax63 53 typical (50%) Frequent (79-30%) HP:0100576
15 nephropathy63 53 occasional (7.5%) Occasional (29-5%) HP:0000112
16 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
17 tremor63 53 occasional (7.5%) Occasional (29-5%) HP:0001337
18 chorea63 53 occasional (7.5%) Occasional (29-5%) HP:0002072
19 intracranial hemorrhage63 53 occasional (7.5%) Occasional (29-5%) HP:0002170
20 autoimmunity63 occasional (7.5%) HP:0002960
21 dysarthria63 HP:0001260
22 mental deterioration63 53 Frequent (79-30%) HP:0001268
23 stroke63 HP:0001297
24 hemiplegia63 HP:0002301
25 headache63 HP:0002315
26 antiphospholipid antibody positivity63 53 Occasional (29-5%) HP:0003613
27 facial palsy63 HP:0010628
28 dementia53 Frequent (79-30%)
29 visual field defect53 Frequent (79-30%)
30 hemiparesis53 Frequent (79-30%)
31 motor delay53 Frequent (79-30%)
32 thromboembolic stroke53 Very frequent (99-80%)
33 aphasia53 Occasional (29-5%)
34 vascular skin abnormality53 Very frequent (99-80%)
35 arterial stenosis53 Very frequent (99-80%)

UMLS symptoms related to Sneddon Syndrome:


flushing, headache, hemiplegia, seizures, tremor, mitral facies, cardiovascular symptoms, vascular pain

Drugs & Therapeutics for Sneddon Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin DiseasesRecruitingNCT01952275

Search NIH Clinical Center for Sneddon Syndrome


Cochrane evidence based reviews: sneddon syndrome

Genetic Tests for Sneddon Syndrome

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Genetic tests related to Sneddon Syndrome:

id Genetic test Affiliating Genes
1 Idiopathic Livedo Reticularis with Systemic Involvement26

Anatomical Context for Sneddon Syndrome

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MalaCards organs/tissues related to Sneddon Syndrome:

35
Skin, Heart, Brain, Bone, Neutrophil, Smooth muscle

Animal Models for Sneddon Syndrome or affiliated genes

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Publications for Sneddon Syndrome

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Articles related to Sneddon Syndrome:

(show all 47)
idTitleAuthorsYear
1
Psychosis with suicide attempt in Sneddon syndrome. (27891710)
2016
2
The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review. (27084221)
2016
3
Treatment of Skin Ulcers Secondary to Sneddon Syndrome With Alprostadil (Prostaglandin E1). (26982963)
2016
4
Sneddon syndrome - imaging findings. (26486491)
2015
5
Strokes in Sneddon syndrome without antiphospholipid antibodies. (25628239)
2015
6
Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case. (25341280)
2014
7
Cardiac valve degeneration in a patient with Sneddon syndrome. (25479820)
2014
8
Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis. (24513089)
2014
9
Sneddon Syndrome Presenting With Unilateral Third Cranial Nerve Palsy. (24051423)
2013
10
A suicide attempt in a context of bipolar symptoms leading to a diagnosis of Sneddon syndrome. (24026725)
2013
11
Transient retinal venous and arterial occlusive events in a case of sneddon syndrome. (25389744)
2012
12
Sneddon syndrome associated with Protein S deficiency. (22565458)
2012
13
Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. (20849802)
2010
14
Improvement of neurological symptoms and memory and emotional status in a case of seronegative Sneddon syndrome with cyclophosphamide. (20444540)
2010
15
Detection of lupus anticoagulant and successful anticoagulation in familial Sneddon syndrome. (20237126)
2010
16
The Sneddon syndrome. (18541809)
2008
17
Perioperative management of Sneddon syndrome during thyroidectomy. (18929289)
2008
18
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. (18474464)
2008
19
Diffuse retinal arterial occlusion, neovascularization, and vitreous hemorrhage as the presenting sign of sneddon syndrome: a 7.5-year angiographic follow-up. (25390485)
2007
20
Central retinal vein occlusion as a possible presenting manifestation of Sneddon syndrome. (17895826)
2007
21
Mitral valve replacement in a patient with Sneddon syndrome. (16202906)
2005
22
Sneddon syndrome revealing dysfibrinogenemia. (12839611)
2003
23
The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. (12640088)
2003
24
Factor V Leiden mutation in Sneddon syndrome. (12765305)
2003
25
Clotting factor VIII in Sneddon syndrome]. (14598591)
2003
26
Therapy of Sneddon syndrome. (12373028)
2002
27
Sneddon syndrome with multiple cerebral infarctions 12 years after the onset of livedo vasculitis: a possible involvement of platelet activation. (11603394)
2001
28
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. (11042423)
2000
29
The mystery of Sneddon syndrome: relationship with antiphospholipid syndrome and systemic lupus erythematosus. (10968900)
2000
30
Sneddon syndrome and dementia. (10593361)
1999
31
Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. (10424203)
1999
32
Antiphospholipid antibodies in a female patient with the Sneddon syndrome]. (9769746)
1998
33
Atrial myxoma syndrome mimicking Ehrmann-Sneddon syndrome. (9529569)
1997
34
The natural course of cerebral lesions in Sneddon syndrome. (9006414)
1997
35
Familial Binswanger-type encephalopathy with Sneddon syndrome]. (8752690)
1996
36
Sneddon syndrome. (7640198)
1995
37
Cerebral blood flow in Sneddon syndrome. (8113897)
1994
38
Sneddon syndrome: cerebral perfusion studies by Tc99m HM-PAO and SPECT. (2013522)
1991
39
Sneddon syndrome presenting with hemicranic attacks: a case report. (1815538)
1991
40
General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome). (1947326)
1991
41
Sneddon syndrome: a diagnosis you do not want to miss. (2121654)
1990
42
Cutaneous thrombosis, cerebrovascular thrombosis, and lupus anticoagulant--the Sneddon syndrome. Report of 10 cases. (2109736)
1990
43
Sneddon syndrome: CT, arteriography, and MR imaging. (2910928)
1989
44
Sneddon syndrome: another mendelian etiology of stroke. (3239961)
1988
45
Simultaneous bilateral central retinal arterial occlusion in a patient with Sneddon syndrome: case history. (3826753)
1987
46
Generalized racemose livedo with cerebrovascular lesions (Sneddon syndrome): an occlusive arteriolopathy due to proliferation and migration of medial smooth muscle cells. (4005168)
1985
47
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:

69
id Symbol AA change Variation ID SNP ID
1CECR1p.Val119AlaVAR_072562
2CECR1p.Gly142SerVAR_072563

Clinvar genetic disease variations for Sneddon Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CECR1NM_177405.2(CECR1): c.355A> G (p.Thr119Ala)SNVPathogenicrs775440641GRCh37Chr 22, 17669232: 17669232
2CECR1NM_177405.2(CECR1): c.424G> A (p.Gly142Ser)SNVPathogenicrs770689762GRCh38Chr 22, 17182696: 17182696

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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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
1blood microparticleGO:00725629.0F2, SERPINC1
2extracellular regionGO:00055768.0APOH, CECR1, F2, SERPINC1
3extracellular spaceGO:00056157.2APOH, ARSA, CECR1, F2, SERPINC1

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:00075979.5APOH, F2
2regulation of blood coagulationGO:00301939.4APOH, F2
3response to nutrientGO:00075849.4ARSA, SERPINC1
4negative regulation of fibrinolysisGO:00519189.4APOH, F2
5positive regulation of blood coagulationGO:00301949.1APOH, F2
6cellular protein metabolic processGO:00442678.9CECR1, F2

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

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082018.9APOH, CECR1, SERPINC1

Sources for Sneddon Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet