MCID: SND002
MIFTS: 48

Sneddon Syndrome

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

Aliases & Classifications for Sneddon Syndrome

MalaCards integrated aliases for Sneddon Syndrome:

Name: Sneddon Syndrome 53 12 49 55 71 51 41 14 69
Livedo Reticularis and Cerebrovascular Accidents 53 49 71
Idiopathic Livedo Reticularis with Systemic Involvement 12 28
Livedo Reticularis-Cerebrovascular Accident Syndrome 49 55
Livedo Racemosa-Cerebrovascular Accident Syndrome 49 55
Ehrmann-Sneddon Syndrome 49 55
Sneddon's Syndrome 72 49
Cerebro-Vascular Lesions and Livedo Reticularis 49
Livedo Racemosa and Cerebrovascular Accidents 49
Sndds 71

Characteristics:

Orphanet epidemiological data:

55
sneddon syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
incidence of 4 per million per year
secondary features include arterial hypertension and renal involvement
women are more often affected
onset in young adulthood
one family with confirmed cecr1 mutation has been reported (last curated august 2014)


HPO:

31
sneddon syndrome:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Sneddon Syndrome

NIH Rare Diseases : 49 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 anticoagulationĀ (blood-thinning) with warfarin, and/or the use of other medications. Last updated: 11/15/2016

MalaCards based summary : Sneddon Syndrome, also known as livedo reticularis and cerebrovascular accidents, is related to dysfibrinogenemia and retinal artery occlusion, and has symptoms including seizures, vertigo and tremor. An important gene associated with Sneddon Syndrome is ADA2 (Adenosine Deaminase 2), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include skin, brain and heart.

OMIM : 53 Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987). (182410)

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 Sneddon\'s syndrome is a form of arteriopathy characterized by several symptoms,... more...

Related Diseases for Sneddon Syndrome

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

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 dysfibrinogenemia 28.9 F2 F5 SERPINC1
2 retinal artery occlusion 28.5 APOH F2 F5 SERPINC1
3 antiphospholipid syndrome 28.5 APOH F2 F5 SERPINC1
4 central retinal vein occlusion 28.3 APOH F2 F5 SERPINC1
5 protein s deficiency 28.3 APOH F2 F5 SERPINC1
6 retinal vein occlusion 28.3 APOH F2 F5 SERPINC1
7 thrombosis 28.3 APOH F2 F5 SERPINC1
8 stroke, ischemic 28.3 APOH F2 F5 SERPINC1
9 adenosine deaminase 2 deficiency 11.7
10 sticky platelet syndrome 10.2 F5 SERPINC1
11 meningococcemia 10.1 F5 SERPINC1
12 may-thurner syndrome 10.1 APOH F5
13 legg-calve-perthes disease 10.1 F5 SERPINC1
14 acanthamoeba keratitis 10.1 APOH F5
15 cerebritis 10.1
16 pregnancy loss, recurrent 1 10.1 APOH F5
17 catastrophic antiphospholipid syndrome 10.1 APOH F5
18 polyarteritis nodosa 10.1 ADA2 APOH
19 retinitis 10.0
20 carotid artery occlusion 10.0 APOH F5
21 paracetamol poisoning 9.9 F2 F5
22 intestinal impaction 9.9 F2 SERPINC1
23 fournier gangrene 9.9 F2 SERPINC1
24 blood protein disease 9.9 F2 SERPINC1
25 leech infestation 9.9 F2 SERPINC1
26 alpha-2-plasmin inhibitor deficiency 9.9 F2 SERPINC1
27 hemoglobin e disease 9.9 F2 F5
28 giant hemangioma 9.9 F2 SERPINC1
29 blue toe syndrome 9.9 F2 SERPINC1
30 intracranial embolism 9.9 F2 SERPINC1
31 cryptogenic cirrhosis 9.9 F2 F5
32 anterior spinal artery syndrome 9.9 F2 SERPINC1
33 subendocardial myocardial infarction 9.9 F2 SERPINC1
34 factor viii deficiency 9.9 F2 F5
35 marantic endocarditis 9.9 F2 SERPINC1
36 porencephaly 9.9 F2 F5
37 purpura fulminans 9.9 F2 SERPINC1
38 homocystinuria 9.9 F5 SERPINC1
39 esophageal varix 9.9 F2 SERPINC1
40 korean hemorrhagic fever 9.9 F2 SERPINC1
41 inherited blood coagulation disease 9.9 F2 SERPINC1
42 factor v deficiency 9.9 F2 F5
43 hypersplenism 9.9 F2 SERPINC1
44 hemorrhagic fever 9.9 F2 SERPINC1
45 scott syndrome 9.9 F2 F5
46 factor xi deficiency 9.9 F2 SERPINC1
47 splenic infarction 9.9 APOH F2
48 arteritic anterior ischemic optic neuropathy 9.8 F2 F5
49 hepatic vascular disease 9.8 F2 SERPINC1
50 papilledema 9.8 APOH F2

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



Diseases related to Sneddon Syndrome

Symptoms & Phenotypes for Sneddon Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
tremor
hemiplegia
dysarthria
facial palsy
more
Skin Nails Hair Skin:
livedo racemosa (usually on trunk and/or lower extremities)
erythematous, irregular netlike pattern of vessels

Laboratory Abnormalities:
associated with serum anti-phospholipid antibodies in about 50% of patients

Cardiovascular Vascular:
hypertension
cerebrovascular ischemic attacks
cerebrovascular hemorrhagic attacks

Skin Nails Hair Skin Histology:
intimal proliferation of small arteries
occlusion of small arteries


Clinical features from OMIM:

182410

Human phenotypes related to Sneddon Syndrome:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 vertigo 55 31 hallmark (90%) Very frequent (99-80%) HP:0002321
3 tremor 55 31 occasional (7.5%) Occasional (29-5%) HP:0001337
4 muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0001324
5 amaurosis fugax 55 31 frequent (33%) Frequent (79-30%) HP:0100576
6 hemiparesis 55 31 frequent (33%) Frequent (79-30%) HP:0001269
7 hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0000822
8 chorea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002072
9 developmental regression 55 31 frequent (33%) Frequent (79-30%) HP:0002376
10 behavioral abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0000708
11 nephropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000112
12 visual field defect 55 31 frequent (33%) Frequent (79-30%) HP:0001123
13 migraine 55 31 hallmark (90%) Very frequent (99-80%) HP:0002076
14 memory impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002354
15 aphasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002381
16 dementia 55 31 frequent (33%) Frequent (79-30%) HP:0000726
17 intracranial hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002170
18 arterial stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100545
19 mental deterioration 55 31 Frequent (79-30%) HP:0001268
20 motor delay 55 31 frequent (33%) Frequent (79-30%) HP:0001270
21 cutis marmorata 55 31 hallmark (90%) Very frequent (99-80%) HP:0000965
22 thromboembolic stroke 55 31 hallmark (90%) Very frequent (99-80%) HP:0001727
23 antiphospholipid antibody positivity 55 31 occasional (7.5%) Occasional (29-5%) HP:0003613
24 headache 31 HP:0002315
25 hemiplegia 31 HP:0002301
26 dysarthria 31 HP:0001260
27 facial palsy 31 HP:0010628
28 vascular skin abnormality 55 Very frequent (99-80%)
29 stroke 31 HP:0001297

UMLS symptoms related to Sneddon Syndrome:


tremor, seizures, hemiplegia, headache

Drugs & Therapeutics for Sneddon Syndrome

Search Clinical Trials , NIH Clinical Center for Sneddon Syndrome

Cochrane evidence based reviews: sneddon syndrome

Genetic Tests for Sneddon Syndrome

Genetic tests related to Sneddon Syndrome:

# Genetic test Affiliating Genes
1 Idiopathic Livedo Reticularis with Systemic Involvement 28 ADA2

Anatomical Context for Sneddon Syndrome

MalaCards organs/tissues related to Sneddon Syndrome:

38
Skin, Brain, Heart, Bone, Smooth Muscle

Publications for Sneddon Syndrome

Articles related to Sneddon Syndrome:

(show all 47)
# Title Authors Year
1
Treatment of Skin Ulcers Secondary to Sneddon Syndrome With Alprostadil (Prostaglandin E1). ( 26982963 )
2016
2
The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review. ( 27084221 )
2016
3
Psychosis with suicide attempt in Sneddon syndrome. ( 27891710 )
2016
4
Strokes in Sneddon syndrome without antiphospholipid antibodies. ( 25628239 )
2015
5
Sneddon syndrome - imaging findings. ( 26486491 )
2015
6
Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis. ( 24513089 )
2014
7
Cardiac valve degeneration in a patient with Sneddon syndrome. ( 25479820 )
2014
8
Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case. ( 25341280 )
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
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
Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. ( 20849802 )
2010
16
The Sneddon syndrome. ( 18541809 )
2008
17
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. ( 18474464 )
2008
18
Perioperative management of Sneddon syndrome during thyroidectomy. ( 18929289 )
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
The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. ( 12640088 )
2003
23
[Clotting factor VIII in Sneddon syndrome]. ( 14598591 )
2003
24
Factor V Leiden mutation in Sneddon syndrome. ( 12765305 )
2003
25
Sneddon syndrome revealing dysfibrinogenemia. ( 12839611 )
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
The mystery of Sneddon syndrome: relationship with antiphospholipid syndrome and systemic lupus erythematosus. ( 10968900 )
2000
29
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. ( 11042423 )
2000
30
Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. ( 10424203 )
1999
31
Sneddon syndrome and dementia. ( 10593361 )
1999
32
[Antiphospholipid antibodies in a female patient with the Sneddon syndrome]. ( 9769746 )
1998
33
The natural course of cerebral lesions in Sneddon syndrome. ( 9006414 )
1997
34
Atrial myxoma syndrome mimicking Ehrmann-Sneddon syndrome. ( 9529569 )
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 presenting with hemicranic attacks: a case report. ( 1815538 )
1991
39
General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome). ( 1947326 )
1991
40
Sneddon syndrome: cerebral perfusion studies by Tc99m HM-PAO and SPECT. ( 2013522 )
1991
41
Cutaneous thrombosis, cerebrovascular thrombosis, and lupus anticoagulant--the Sneddon syndrome. Report of 10 cases. ( 2109736 )
1990
42
Sneddon syndrome: a diagnosis you do not want to miss. ( 2121654 )
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

UniProtKB/Swiss-Prot genetic disease variations for Sneddon Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 ADA2 p.Val119Ala VAR_072562
2 ADA2 p.Gly142Ser VAR_072563

ClinVar genetic disease variations for Sneddon Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADA2 NM_177405.2(ADA2): c.355A> G (p.Thr119Ala) single nucleotide variant Pathogenic rs775440641 GRCh37 Chromosome 22, 17669232: 17669232
2 ADA2 NM_177405.2(ADA2): c.424G> A (p.Gly142Ser) single nucleotide variant Pathogenic rs770689762 GRCh38 Chromosome 22, 17182696: 17182696

Expression for Sneddon Syndrome

Search GEO for disease gene expression data for Sneddon Syndrome.

Pathways for Sneddon Syndrome

GO Terms for Sneddon Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 ADA2 APOH F2 F5 SERPINC1
2 endoplasmic reticulum lumen GO:0005788 9.33 F2 F5 SERPINC1
3 extracellular space GO:0005615 9.02 ADA2 APOH F2 F5 SERPINC1

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.54 F2 F5 SERPINC1
2 platelet degranulation GO:0002576 9.43 APOH F5
3 blood coagulation, intrinsic pathway GO:0007597 9.4 APOH F2
4 hemostasis GO:0007599 9.33 F2 F5 SERPINC1
5 positive regulation of blood coagulation GO:0030194 9.32 APOH F2
6 negative regulation of fibrinolysis GO:0051918 9.26 APOH F2
7 cellular protein metabolic process GO:0044267 9.26 ADA2 F2 F5 SERPINC1
8 regulation of blood coagulation GO:0030193 8.8 APOH F2 SERPINC1

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.92 ADA2 APOH F2 SERPINC1

Sources for Sneddon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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