MCID: SND002
MIFTS: 45

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:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Sneddon Syndrome:

Name: Sneddon Syndrome 50 11 46 13 52 68 48 37 66
Livedo Reticularis and Cerebrovascular Accidents 46 52 68
Idiopathic Livedo Reticularis with Systemic Involvement 11 25
Livedo Racemosa and Cerebrovascular Accidents 46 52
 
Ehrmann-Sneddon Syndrome 46 52
Cerebro-Vascular Lesions and Livedo Reticularis 46
Sneddon's Syndrome 46
Sndds 68

Characteristics:

Orphanet epidemiological data:

52
sneddon syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult

HPO:

62
sneddon syndrome:
Inheritance: autosomal dominant inheritance, sporadic
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM50 182410
Disease Ontology11 DOID:13096
MeSH37 D018860
Orphanet52 ORPHA820
SNOMED-CT60 238776001
ICD10 via Orphanet29 I77.8
MESH via Orphanet38 D018860
UMLS via Orphanet67 C0282492
MedGen35 C0282492

Summaries for Sneddon Syndrome

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UniProtKB/Swiss-Prot:68 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.

MalaCards based summary: Sneddon Syndrome, also known as livedo reticularis and cerebrovascular accidents, 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 Collagen biosynthesis and modifying enzymes and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include skin, heart and brain.

NIH Rare Diseases:46 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

OMIM:50 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 117)
idRelated DiseaseScoreTop Affiliating Genes
1adenosine deaminase 2 deficiency11.4
2central gyrate choroidal dystrophy10.2APOH, CECR1
3coenzyme q cytochrome c reductase deficiency of10.2APOH, F5
4onychocytic matricoma10.2APOH, F5
5hepatic fibrosis renal cysts mental retardation10.2F5, SERPINC1
6pregnancy loss, recurrent 110.2APOH, F5
7catatrichy10.1APOH, F5
8cerebritis10.1
9childhood central nervous system germinoma10.1APOH, F5
10retinitis10.1
11ariboflavinosis10.0F2, SERPINC1
12myiasis10.0F2, SERPINC1
13cavernous hemangioma of face10.0F2, SERPINC1
14marek disease10.0F2, SERPINC1
15ovarian gonadoblastoma10.0F2, SERPINC1
16milk allergy10.0F2, SERPINC1
17hypertensive heart disease10.0F2, SERPINC1
18cholesterol embolism10.0APOH, F2
19spleen cancer9.9F2, SERPINC1
20dmd-related dilated cardiomyopathy9.9F2, SERPINC1
21lateral cystocele9.9F2, SERPINC1
22posterolateral myocardial infarction9.9F2, SERPINC1
23facial hemiatrophy9.9F2, SERPINC1
24lymphatic system cancer9.9F2, SERPINC1
25histoplasmosis9.9F2, SERPINC1
26antiphospholipid syndrome9.9
27retinal artery occlusion9.9
28elejalde disease9.9APOH, F2
29lujo hemorrhagic fever9.9F2, SERPINC1
30perichondritis of auricle9.9F2, SERPINC1
31anterior foramen magnum meningioma9.9F2, SERPINC1
32acute zonal occult outer retinopathy9.9F2, F5
33dermatitis9.9F2, SERPINC1
34bartholin's gland adenoma9.9F2, F5
35tympanosclerosis9.8F2, F5
36homocystinuria due to defect in methylation cbl g9.8F2, F5
37c1 inhibitor deficiency9.8APOH, F2
38primary pigmented nodular adrenocortical disease9.8F2, F5
39platelet storage pool deficiency9.8F2, SERPINC1
40facioscapulohumeral muscular dystrophy 19.8F2, F5
41alpha-2-plasmin inhibitor deficiency9.8F2, SERPINC1
42west nile fever9.8F2, F5
43pes anserinus tendinitis or bursitis9.8F2, SERPINC1
44hepatocellular adenoma9.8F2, F5
45microcytic anemia9.8F2, SERPINC1
46idiopathic central precocious puberty9.8F2, F5
47focal epilepsy9.8F2, SERPINC1
48infantile-onset ascending hereditary spastic paralysis9.8F2, F5
49ovarian insufficiency, familial9.8F2, SERPINC1
50irak4 deficiency9.8F2, F5

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:

 52 (show all 24)
  • nephropathy
  • behavioral abnormality
  • dementia
  • hypertension
  • cutis marmorata
  • visual field defect
  • seizures
  • mental deterioration
  • hemiparesis
  • motor delay
  • muscle weakness
  • tremor
  • thromboembolic stroke
  • chorea
  • migraine
  • intracranial hemorrhage
  • vertigo
  • memory impairment
  • developmental regression
  • aphasia
  • antiphospholipid antibody positivity
  • vascular skin abnormality
  • arterial stenosis
  • amaurosis fugax

HPO human phenotypes related to Sneddon Syndrome:

(show all 32)
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 visual impairment typical (50%) HP:0000505
8 hypertension typical (50%) HP:0000822
9 acrocyanosis typical (50%) HP:0001063
10 muscle weakness typical (50%) HP:0001324
11 neurological speech impairment typical (50%) HP:0002167
12 developmental regression typical (50%) HP:0002376
13 hemiplegia/hemiparesis typical (50%) HP:0004374
14 amaurosis fugax typical (50%) HP:0100576
15 nephropathy occasional (7.5%) HP:0000112
16 seizures occasional (7.5%) HP:0001250
17 tremor occasional (7.5%) HP:0001337
18 chorea occasional (7.5%) HP:0002072
19 neurological speech impairment occasional (7.5%) HP:0002167
20 intracranial hemorrhage occasional (7.5%) HP:0002170
21 autoimmunity occasional (7.5%) HP:0002960
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 facial palsy HP:0010628

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 Involvement25

Anatomical Context for Sneddon Syndrome

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MalaCards organs/tissues related to Sneddon Syndrome:

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

68
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)single nucleotide variantPathogenicrs775440641GRCh37Chr 22, 17669232: 17669232
2CECR1NM_177405.2(CECR1): c.424G> A (p.Gly142Ser)single nucleotide variantPathogenicrs770689762GRCh38Chr 22, 17182696: 17182696

Expression for genes affiliated with Sneddon Syndrome

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Search GEO for disease gene expression data for Sneddon Syndrome.

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
1extracellular spaceGO:00056157.5APOH, CECR1, F2, F5, SERPINC1
2extracellular regionGO:00055767.2APOH, CECR1, F2, F5, SERPINC1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1platelet degranulationGO:00025769.8APOH, F5
2blood coagulation, intrinsic pathwayGO:00075979.6APOH, F2
3regulation of blood coagulationGO:00301939.6APOH, F2
4negative regulation of fibrinolysisGO:00519189.5APOH, F2
5cellular protein metabolic processGO:00442679.4CECR1, F2
6platelet activationGO:00301689.3F2, F5
7positive regulation of blood coagulationGO:00301949.2APOH, F2
8blood coagulationGO:00075968.5F2, F5, SERPINC1

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet