MCID: SND002
MIFTS: 48

Sneddon Syndrome

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

Aliases & Classifications for Sneddon Syndrome

MalaCards integrated aliases for Sneddon Syndrome:

Name: Sneddon Syndrome 57 12 53 59 75 55 44 15 73
Idiopathic Livedo Reticularis with Systemic Involvement 12 29 6
Livedo Reticularis and Cerebrovascular Accidents 57 53 75
Livedo Reticularis-Cerebrovascular Accident Syndrome 53 59
Livedo Racemosa-Cerebrovascular Accident Syndrome 53 59
Ehrmann-Sneddon Syndrome 53 59
Sneddon's Syndrome 76 53
Cerebro-Vascular Lesions and Livedo Reticularis 53
Livedo Racemosa and Cerebrovascular Accidents 53
Syndrome, Sneddon 40
Sndds 75

Characteristics:

Orphanet epidemiological data:

59
sneddon syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult;

OMIM:

57
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:

32
sneddon syndrome:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Sneddon Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Sneddon Syndrome, also known as idiopathic livedo reticularis with systemic involvement, is related to marantic endocarditis and dysfibrinogenemia, and has symptoms including headache, hemiplegia and seizures. 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, heart and brain, and related phenotypes are nephropathy and behavioral abnormality

OMIM : 57 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 : 75 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 : 76 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 125)
# Related Disease Score Top Affiliating Genes
1 marantic endocarditis 29.3 F2 SERPINC1
2 dysfibrinogenemia 28.5 F2 F5 SERPINC1
3 endocarditis 28.3 APOH F2 SERPINC1
4 retinal artery occlusion 27.7 APOH F2 F5 SERPINC1
5 antiphospholipid syndrome 27.7 APOH F2 F5 SERPINC1
6 central retinal vein occlusion 27.5 APOH F2 F5 SERPINC1
7 protein s deficiency 27.5 APOH F2 F5 SERPINC1
8 retinal vein occlusion 27.5 APOH F2 F5 SERPINC1
9 thrombosis 27.5 APOH F2 F5 SERPINC1
10 stroke, ischemic 27.4 APOH F2 F5 SERPINC1
11 adenosine deaminase 2 deficiency 11.7
12 sticky platelet syndrome 10.2 F5 SERPINC1
13 meningococcemia 10.2 F5 SERPINC1
14 legg-calve-perthes disease 10.1 F5 SERPINC1
15 may-thurner syndrome 10.1 APOH F5
16 acanthamoeba keratitis 10.1 APOH F5
17 pregnancy loss, recurrent 1 10.1 APOH F5
18 polyarteritis nodosa 10.1 ADA2 APOH
19 catastrophic antiphospholipid syndrome 10.1 APOH F5
20 cerebritis 10.1
21 carotid artery occlusion 10.0 APOH F5
22 retinitis 10.0
23 paracetamol poisoning 9.9 F2 F5
24 intestinal impaction 9.9 F2 SERPINC1
25 fournier gangrene 9.9 F2 SERPINC1
26 blood protein disease 9.9 F2 SERPINC1
27 leech infestation 9.9 F2 SERPINC1
28 alpha-2-plasmin inhibitor deficiency 9.9 F2 SERPINC1
29 hemoglobin e disease 9.9 F2 F5
30 giant hemangioma 9.9 F2 SERPINC1
31 blue toe syndrome 9.9 F2 SERPINC1
32 intracranial embolism 9.9 F2 SERPINC1
33 anterior spinal artery syndrome 9.9 F2 SERPINC1
34 subendocardial myocardial infarction 9.9 F2 SERPINC1
35 cryptogenic cirrhosis 9.8 F2 F5
36 factor viii deficiency 9.8 F2 F5
37 porencephaly 9.8 F2 F5
38 purpura fulminans 9.8 F2 SERPINC1
39 homocystinuria 9.8 F5 SERPINC1
40 korean hemorrhagic fever 9.8 F2 SERPINC1
41 esophageal varix 9.8 F2 SERPINC1
42 inherited blood coagulation disease 9.8 F2 SERPINC1
43 hypersplenism 9.8 F2 SERPINC1
44 hemorrhagic fever 9.8 F2 SERPINC1
45 scott syndrome 9.8 F2 F5
46 arteritic anterior ischemic optic neuropathy 9.8 F2 F5
47 hepatic vascular disease 9.8 F2 SERPINC1
48 splenic infarction 9.8 APOH F2
49 factor xi deficiency 9.8 F2 SERPINC1
50 acute liver failure 9.8 F2 F5

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:

57
Cardiovascular Vascular:
hypertension
cerebrovascular ischemic attacks
cerebrovascular hemorrhagic attacks

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

Neurologic Central Nervous System:
seizures
dysarthria
tremor
facial palsy
hemiplegia
more
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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
2 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
3 dementia 59 32 frequent (33%) Frequent (79-30%) HP:0000726
4 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
5 cutis marmorata 59 32 hallmark (90%) Very frequent (99-80%) HP:0000965
6 visual field defect 59 32 frequent (33%) Frequent (79-30%) HP:0001123
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 mental deterioration 59 32 Frequent (79-30%) HP:0001268
9 hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0001269
10 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
11 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
12 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
13 thromboembolic stroke 59 32 hallmark (90%) Very frequent (99-80%) HP:0001727
14 chorea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002072
15 migraine 59 32 hallmark (90%) Very frequent (99-80%) HP:0002076
16 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
17 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
18 memory impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002354
19 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
20 aphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002381
21 antiphospholipid antibody positivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003613
22 arterial stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100545
23 amaurosis fugax 59 32 frequent (33%) Frequent (79-30%) HP:0100576
24 vascular skin abnormality 59 Very frequent (99-80%)
25 dysarthria 32 HP:0001260
26 stroke 32 HP:0001297
27 hemiplegia 32 HP:0002301
28 headache 32 HP:0002315
29 facial palsy 32 HP:0010628

UMLS symptoms related to Sneddon Syndrome:


headache, hemiplegia, seizures, tremor

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 29 ADA2

Anatomical Context for Sneddon Syndrome

MalaCards organs/tissues related to Sneddon Syndrome:

41
Skin, Heart, Brain, Bone, Smooth Muscle

Publications for Sneddon Syndrome

Articles related to Sneddon Syndrome:

(show top 50) (show all 51)
# Title Authors Year
1
Sneddon syndrome and non-bacterial thrombotic endocarditis: a clinicopathological study. ( 29980854 )
2018
2
Aortic valve replacement in a patient with Sneddon syndrome. ( 29971819 )
2018
3
Psychosis with suicide attempt in Sneddon syndrome. ( 27891710 )
2016
4
Treatment of Skin Ulcers Secondary to Sneddon Syndrome With Alprostadil (Prostaglandin E1). ( 26982963 )
2016
5
The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review. ( 27084221 )
2016
6
Sneddon syndrome - imaging findings. ( 26486491 )
2015
7
Strokes in Sneddon syndrome without antiphospholipid antibodies. ( 25628239 )
2015
8
Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis. ( 24513089 )
2014
9
Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case. ( 25341280 )
2014
10
Cardiac valve degeneration in a patient with Sneddon syndrome. ( 25479820 )
2014
11
A suicide attempt in a context of bipolar symptoms leading to a diagnosis of Sneddon syndrome. ( 24026725 )
2013
12
Sneddon Syndrome Presenting With Unilateral Third Cranial Nerve Palsy. ( 24051423 )
2013
13
Sneddon syndrome associated with Protein S deficiency. ( 22565458 )
2012
14
Transient retinal venous and arterial occlusive events in a case of sneddon syndrome. ( 25389744 )
2012
15
Improvement of neurological symptoms and memory and emotional status in a case of seronegative Sneddon syndrome with cyclophosphamide. ( 20444540 )
2010
16
Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. ( 20849802 )
2010
17
Detection of lupus anticoagulant and successful anticoagulation in familial Sneddon syndrome. ( 20237126 )
2010
18
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. ( 18474464 )
2008
19
The Sneddon syndrome. ( 18541809 )
2008
20
Perioperative management of Sneddon syndrome during thyroidectomy. ( 18929289 )
2008
21
Diffuse retinal arterial occlusion, neovascularization, and vitreous hemorrhage as the presenting sign of sneddon syndrome: a 7.5-year angiographic follow-up. ( 25390485 )
2007
22
Central retinal vein occlusion as a possible presenting manifestation of Sneddon syndrome. ( 17895826 )
2007
23
Mitral valve replacement in a patient with Sneddon syndrome. ( 16202906 )
2005
24
[Clotting factor VIII in Sneddon syndrome]. ( 14598591 )
2003
25
Factor V Leiden mutation in Sneddon syndrome. ( 12765305 )
2003
26
Sneddon syndrome revealing dysfibrinogenemia. ( 12839611 )
2003
27
The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. ( 12640088 )
2003
28
Therapy of Sneddon syndrome. ( 12373028 )
2002
29
Sneddon syndrome with multiple cerebral infarctions 12 years after the onset of livedo vasculitis: a possible involvement of platelet activation. ( 11603394 )
2001
30
The mystery of Sneddon syndrome: relationship with antiphospholipid syndrome and systemic lupus erythematosus. ( 10968900 )
2000
31
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. ( 11042423 )
2000
32
Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. ( 10424203 )
1999
33
Sneddon syndrome and dementia. ( 10593361 )
1999
34
[Antiphospholipid antibodies in a female patient with the Sneddon syndrome]. ( 9769746 )
1998
35
Atrial myxoma syndrome mimicking Ehrmann-Sneddon syndrome. ( 9529569 )
1997
36
The natural course of cerebral lesions in Sneddon syndrome. ( 9006414 )
1997
37
[Familial Binswanger-type encephalopathy with Sneddon syndrome]. ( 8752690 )
1996
38
[A case of Sneddon syndrome]. ( 7887321 )
1995
39
Sneddon syndrome. ( 7640198 )
1995
40
Cerebral blood flow in Sneddon syndrome. ( 8113897 )
1994
41
General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome). ( 1947326 )
1991
42
Sneddon syndrome presenting with hemicranic attacks: a case report. ( 1815538 )
1991
43
Sneddon syndrome: cerebral perfusion studies by Tc99m HM-PAO and SPECT. ( 2013522 )
1991
44
Sneddon syndrome: a diagnosis you do not want to miss. ( 2121654 )
1990
45
[The Sneddon syndrome--diagnostic, etiological and therapeutic aspects]. ( 2195618 )
1990
46
Cutaneous thrombosis, cerebrovascular thrombosis, and lupus anticoagulant--the Sneddon syndrome. Report of 10 cases. ( 2109736 )
1990
47
Sneddon syndrome: CT, arteriography, and MR imaging. ( 2910928 )
1989
48
Sneddon syndrome: another mendelian etiology of stroke. ( 3239961 )
1988
49
Simultaneous bilateral central retinal arterial occlusion in a patient with Sneddon syndrome: case history. ( 3826753 )
1987
50
Generalized racemose livedo with cerebrovascular lesions (Sneddon syndrome): an occlusive arteriolopathy due to proliferation and migration of medial smooth muscle cells. ( 4005168 )
1985

Variations for Sneddon Syndrome

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

75
# 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.355A> G (p.Thr119Ala) single nucleotide variant Pathogenic rs775440641 GRCh38 Chromosome 22, 17188342: 17188342
3 ADA2 NM_177405.2(ADA2): c.424G> A (p.Gly142Ser) single nucleotide variant Pathogenic rs770689762 GRCh38 Chromosome 22, 17182696: 17182696
4 ADA2 NM_177405.2(ADA2): c.424G> A (p.Gly142Ser) single nucleotide variant Pathogenic rs770689762 GRCh37 Chromosome 22, 17663586: 17663586

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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