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:
49OMIM, 10Disease Ontology, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Sneddon Syndrome:

Name: Sneddon Syndrome 49 10 45 47 12 51 67 36 65
Livedo Reticularis and Cerebrovascular Accidents 45 51 67
Idiopathic Livedo Reticularis with Systemic Involvement 10 24
Livedo Racemosa and Cerebrovascular Accidents 45 51
 
Ehrmann-Sneddon Syndrome 45 51
Cerebro-Vascular Lesions and Livedo Reticularis 45
Sneddon's Syndrome 45
Sndds 67

Characteristics:

Orphanet epidemiological data:

51
sneddon syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult

HPO:

61
sneddon syndrome:
Inheritance: sporadic, autosomal dominant inheritance
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM49 182410
Disease Ontology10 DOID:13096
MeSH36 D018860
Orphanet51 820
SNOMED-CT59 238776001
ICD10 via Orphanet28 I77.8
MESH via Orphanet37 D018860
UMLS via Orphanet66 C0282492
MedGen34 C0282492
UMLS65 C0282492

Summaries for Sneddon Syndrome

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UniProtKB/Swiss-Prot:67 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 protein s deficiency and adenosine deaminase 2 deficiency, and has symptoms including cerebral ischemia, memory impairment and vertigo. 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:45 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:49 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 98)
idRelated DiseaseScoreTop Affiliating Genes
1protein s deficiency28.8APOH, F5, SERPINC1
2adenosine deaminase 2 deficiency11.4
3partial circumpapillary choroid dystrophy10.3APOH, CECR1
4sarcomatous intrahepatic cholangiocarcinoma10.2APOH, F8
5thumb absent short stature immune deficiency10.2APOH, F8
6fowler's syndrome10.2F8, SERPINC1
7cerebritis10.1
8glycerol kinase deficiency, adult form10.1F8, SERPINC1
9retinitis10.1
10intraocular lymphoma10.0APOH, SERPINC1
11mayer-rokitansky-kuster-hauser syndrome10.0APOH, F5
12acquired hypoprothrombinemia10.0F5, F8
13acquired hemophilia a10.0F5, F8
14tall stature-scoliosis-macrodactyly of the great toes syndrome10.0APOH, F5
15liver failure acute infantile10.0APOH, F5
16sugarman brachydactyly10.0APOH, F5
17factor v and factor viii, combined deficiency of10.0F5, F8
18catatrichy10.0APOH, F5
19pregnancy loss, recurrent 110.0APOH, F5
20dysthymic disorder9.9F5, F8
21facioscapulohumeral muscular dystrophy 19.9F5, F8
22pneumoconiosis9.9APOH, SERPINC1
23moderately severe hemophilia a9.9F5, F8
24skeletal muscle regeneration9.9F5, F8
25antiphospholipid syndrome9.9
26retinal artery occlusion9.9
27perichondritis of auricle9.9F8, SERPINC1
28nutmeg liver9.9APOH, F5
29heterotopia, periventricular9.9F5, F8
30islet cell tumor9.9APOH, F5
31lateral sinus thrombosis9.9F5, SERPINC1
32pericardial mesothelioma9.9F5, SERPINC1
33sertoli cell tumor9.9F5, SERPINC1
34fissured tongue9.9F5, SERPINC1
35cerebrovascular disease9.9F5, SERPINC1
36pre-malignant neoplasm9.8F5, SERPINC1
37angioedema, hereditary, type iii9.8F5, SERPINC1
38stickler sydrome, type i, nonsyndromic ocular9.8F5, SERPINC1
39meningoencephalocele9.8F5, SERPINC1
40agammaglobulinemia x-linked type 29.8F5, F8
41heart cancer9.8F5, SERPINC1
42thrombophilia9.8F5, SERPINC1
43hypermobility of coccyx9.8F5, F8
44acrodermatitis9.8F5, SERPINC1
45senile cataract9.8F5, SERPINC1
46postcricoid region cancer9.8F5, SERPINC1
47systemic lupus erythematosus9.8
48retinal vein occlusion9.8
49transient global amnesia9.8
50dementia9.8

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:

 51 (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 32)
id Description Frequency HPO Source Accession
1 cerebral ischemia hallmark (90%) HP:0002637
2 memory impairment hallmark (90%) HP:0002354
3 vertigo hallmark (90%) HP:0002321
4 migraine hallmark (90%) HP:0002076
5 cutis marmorata hallmark (90%) HP:0000965
6 behavioral abnormality hallmark (90%) HP:0000708
7 amaurosis fugax typical (50%) HP:0100576
8 hemiplegia/hemiparesis typical (50%) HP:0004374
9 developmental regression typical (50%) HP:0002376
10 neurological speech impairment typical (50%) HP:0002167
11 muscle weakness typical (50%) HP:0001324
12 acrocyanosis typical (50%) HP:0001063
13 hypertension typical (50%) HP:0000822
14 visual impairment typical (50%) HP:0000505
15 autoimmunity occasional (7.5%) HP:0002960
16 intracranial hemorrhage occasional (7.5%) HP:0002170
17 neurological speech impairment occasional (7.5%) HP:0002167
18 chorea occasional (7.5%) HP:0002072
19 tremor occasional (7.5%) HP:0001337
20 seizures occasional (7.5%) HP:0001250
21 nephropathy occasional (7.5%) HP:0000112
22 facial palsy HP:0010628
23 antiphospholipid antibody positivity HP:0003613
24 headache HP:0002315
25 hemiplegia HP:0002301
26 tremor HP:0001337
27 stroke HP:0001297
28 mental deterioration HP:0001268
29 dysarthria HP:0001260
30 seizures HP:0001250
31 cutis marmorata HP:0000965
32 hypertension HP:0000822

UMLS symptoms related to Sneddon Syndrome:


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

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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Anatomical Context for Sneddon Syndrome

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MalaCards organs/tissues related to Sneddon Syndrome:

33
Skin, Heart, Brain, Neutrophil, Bone, Prostate, Breast

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
Strokes in Sneddon syndrome without antiphospholipid antibodies. (25628239)
2015
4
Sneddon syndrome - imaging findings. (26486491)
2015
5
Cardiac valve degeneration in a patient with Sneddon syndrome. (25479820)
2014
6
Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis. (24513089)
2014
7
Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case. (25341280)
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
Sneddon syndrome associated with Protein S deficiency. (22565458)
2012
11
Transient retinal venous and arterial occlusive events in a case of sneddon syndrome. (25389744)
2012
12
Detection of lupus anticoagulant and successful anticoagulation in familial Sneddon syndrome. (20237126)
2010
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
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
Central retinal vein occlusion as a possible presenting manifestation of Sneddon syndrome. (17895826)
2007
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
Mitral valve replacement in a patient with Sneddon syndrome. (16202906)
2005
21
Factor V Leiden mutation in Sneddon syndrome. (12765305)
2003
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
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
The mystery of Sneddon syndrome: relationship with antiphospholipid syndrome and systemic lupus erythematosus. (10968900)
2000
28
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. (11042423)
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
General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome). (1947326)
1991
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
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:

67
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
1endoplasmic reticulum lumenGO:00057889.1F5, F8
2endoplasmic reticulum-Golgi intermediate compartment membraneGO:00331168.8F5, F8

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

idNameGO IDScoreTop Affiliating Genes
1COPII vesicle coatingGO:00482089.1F5, F8
2protein N-linked glycosylation via asparagineGO:00182799.1F5, F8

Sources for Sneddon Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet