SNDDS
MCID: SND002
MIFTS: 47

Sneddon Syndrome (SNDDS)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Neuronal diseases, Rare 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. Some researchers separate Sneddon syndrome into two different types depending on whether an underlying cause has been identified (primary versus idiopathic), while others suggest a classification based on whether certain symptoms of autoimmune disease are present or not (aPL-positive versus aPL negative). 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 seizures, tremor and headache. An important gene associated with Sneddon Syndrome is ADA2 (Adenosine Deaminase 2), and among its related pathways/superpathways are Complement and coagulation cascades and Gamma carboxylation, hypusine formation and arylsulfatase activation. Affiliated tissues include skin, brain and heart, and related phenotypes are hypertension and seizures

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 92)
# Related Disease Score Top Affiliating Genes
1 marantic endocarditis 29.7 F2 SERPINC1
2 dysfibrinogenemia 29.7 F2 SERPINC1
3 antiphospholipid syndrome 29.6 APOH F2 SERPINC1
4 central retinal vein occlusion 29.4 APOH F2 SERPINC1
5 retinal vein occlusion 29.4 APOH F2 SERPINC1
6 thrombosis 29.4 APOH F2 SERPINC1
7 protein s deficiency 29.4 APOH F2 SERPINC1
8 endocarditis 29.4 APOH F2 SERPINC1
9 adenosine deaminase 2 deficiency 11.9
10 polyarteritis nodosa 10.0 ADA2 APOH
11 intracranial thrombosis 10.0 APOH SERPINC1
12 factor xii deficiency 10.0 APOH SERPINC1
13 legg-calve-perthes disease 10.0 APOH SERPINC1
14 leech infestation 10.0 F2 SERPINC1
15 intestinal impaction 10.0 F2 SERPINC1
16 fournier gangrene 10.0 F2 SERPINC1
17 alpha-2-plasmin inhibitor deficiency 10.0 F2 SERPINC1
18 intracranial embolism 10.0 F2 SERPINC1
19 giant hemangioma 10.0 F2 SERPINC1
20 sagittal sinus thrombosis 10.0 F2 SERPINC1
21 placenta disease 10.0 APOH SERPINC1
22 blue toe syndrome 10.0 F2 SERPINC1
23 subendocardial myocardial infarction 10.0 F2 SERPINC1
24 korean hemorrhagic fever 10.0 F2 SERPINC1
25 hemorrhagic fever 9.9 F2 SERPINC1
26 purpura fulminans 9.9 F2 SERPINC1
27 esophageal varix 9.9 F2 SERPINC1
28 anterior spinal artery syndrome 9.9 F2 SERPINC1
29 eclampsia 9.9 F2 SERPINC1
30 severe pre-eclampsia 9.9 APOH SERPINC1
31 post-thrombotic syndrome 9.9 F2 SERPINC1
32 hypersplenism 9.9 F2 SERPINC1
33 inherited blood coagulation disease 9.9 F2 SERPINC1
34 blood coagulation disease 9.9 F2 SERPINC1
35 blood protein disease 9.9 F2 SERPINC1
36 hepatic vascular disease 9.9 F2 SERPINC1
37 sudden sensorineural hearing loss 9.9 APOH F2
38 cerebral sinovenous thrombosis 9.9 APOH F2
39 pulmonary artery disease 9.9 F2 SERPINC1
40 factor xi deficiency 9.9 F2 SERPINC1
41 papilledema 9.9 APOH F2
42 protein c deficiency 9.9 F2 SERPINC1
43 vein disease 9.9 F2 SERPINC1
44 hemophilia b 9.9 F2 SERPINC1
45 buerger disease 9.9 APOH F2
46 factor x deficiency 9.9 F2 SERPINC1
47 nonarteritic anterior ischemic optic neuropathy 9.9 F2 SERPINC1
48 afibrinogenemia, congenital 9.9 F2 SERPINC1
49 osteonecrosis 9.9 F2 SERPINC1
50 infective endocarditis 9.9 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:

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

UMLS symptoms related to Sneddon Syndrome:


seizures, tremor, headache, hemiplegia

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, Brain, Heart, Bone, Smooth Muscle, Spinal Cord, Placenta

Publications for Sneddon Syndrome

Articles related to Sneddon Syndrome:

(show top 50) (show all 53)
# 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
Cognitive and psychiatric changes as first clinical presentation in Sneddon syndrome. ( 29988314 )
2018
4
Long-term follow-up of early-onset Sneddon syndrome: A case report. ( 30306117 )
2018
5
Psychosis with suicide attempt in Sneddon syndrome. ( 27891710 )
2016
6
Treatment of Skin Ulcers Secondary to Sneddon Syndrome With Alprostadil (Prostaglandin E1). ( 26982963 )
2016
7
The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review. ( 27084221 )
2016
8
Sneddon syndrome - imaging findings. ( 26486491 )
2015
9
Strokes in Sneddon syndrome without antiphospholipid antibodies. ( 25628239 )
2015
10
Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis. ( 24513089 )
2014
11
Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case. ( 25341280 )
2014
12
Cardiac valve degeneration in a patient with Sneddon syndrome. ( 25479820 )
2014
13
A suicide attempt in a context of bipolar symptoms leading to a diagnosis of Sneddon syndrome. ( 24026725 )
2013
14
Sneddon Syndrome Presenting With Unilateral Third Cranial Nerve Palsy. ( 24051423 )
2013
15
Sneddon syndrome associated with Protein S deficiency. ( 22565458 )
2012
16
Transient retinal venous and arterial occlusive events in a case of sneddon syndrome. ( 25389744 )
2012
17
Improvement of neurological symptoms and memory and emotional status in a case of seronegative Sneddon syndrome with cyclophosphamide. ( 20444540 )
2010
18
Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. ( 20849802 )
2010
19
Detection of lupus anticoagulant and successful anticoagulation in familial Sneddon syndrome. ( 20237126 )
2010
20
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. ( 18474464 )
2008
21
The Sneddon syndrome. ( 18541809 )
2008
22
Perioperative management of Sneddon syndrome during thyroidectomy. ( 18929289 )
2008
23
Diffuse retinal arterial occlusion, neovascularization, and vitreous hemorrhage as the presenting sign of sneddon syndrome: a 7.5-year angiographic follow-up. ( 25390485 )
2007
24
Central retinal vein occlusion as a possible presenting manifestation of Sneddon syndrome. ( 17895826 )
2007
25
Mitral valve replacement in a patient with Sneddon syndrome. ( 16202906 )
2005
26
[Clotting factor VIII in Sneddon syndrome]. ( 14598591 )
2003
27
Factor V Leiden mutation in Sneddon syndrome. ( 12765305 )
2003
28
Sneddon syndrome revealing dysfibrinogenemia. ( 12839611 )
2003
29
The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. ( 12640088 )
2003
30
Therapy of Sneddon syndrome. ( 12373028 )
2002
31
Sneddon syndrome with multiple cerebral infarctions 12 years after the onset of livedo vasculitis: a possible involvement of platelet activation. ( 11603394 )
2001
32
The mystery of Sneddon syndrome: relationship with antiphospholipid syndrome and systemic lupus erythematosus. ( 10968900 )
2000
33
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. ( 11042423 )
2000
34
Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. ( 10424203 )
1999
35
Sneddon syndrome and dementia. ( 10593361 )
1999
36
[Antiphospholipid antibodies in a female patient with the Sneddon syndrome]. ( 9769746 )
1998
37
Atrial myxoma syndrome mimicking Ehrmann-Sneddon syndrome. ( 9529569 )
1997
38
The natural course of cerebral lesions in Sneddon syndrome. ( 9006414 )
1997
39
[Familial Binswanger-type encephalopathy with Sneddon syndrome]. ( 8752690 )
1996
40
[A case of Sneddon syndrome]. ( 7887321 )
1995
41
Sneddon syndrome. ( 7640198 )
1995
42
Cerebral blood flow in Sneddon syndrome. ( 8113897 )
1994
43
General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome). ( 1947326 )
1991
44
Sneddon syndrome presenting with hemicranic attacks: a case report. ( 1815538 )
1991
45
Sneddon syndrome: cerebral perfusion studies by Tc99m HM-PAO and SPECT. ( 2013522 )
1991
46
Sneddon syndrome: a diagnosis you do not want to miss. ( 2121654 )
1990
47
[The Sneddon syndrome--diagnostic, etiological and therapeutic aspects]. ( 2195618 )
1990
48
Cutaneous thrombosis, cerebrovascular thrombosis, and lupus anticoagulant--the Sneddon syndrome. Report of 10 cases. ( 2109736 )
1990
49
Sneddon syndrome: CT, arteriography, and MR imaging. ( 2910928 )
1989
50
Sneddon syndrome: another mendelian etiology of stroke. ( 3239961 )
1988

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 exosome GO:0070062 9.62 APOH ARSA F2 SERPINC1
2 blood microparticle GO:0072562 9.37 F2 SERPINC1
3 extracellular region GO:0005576 9.35 ADA2 APOH ARSA F2 SERPINC1
4 endoplasmic reticulum lumen GO:0005788 9.33 ARSA F2 SERPINC1
5 azurophil granule lumen GO:0035578 9.26 ADA2 ARSA
6 extracellular space GO:0005615 9.02 ADA2 APOH ARSA F2 SERPINC1

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

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.5 ADA2 F2 SERPINC1
2 response to nutrient GO:0007584 9.4 ARSA SERPINC1
3 hemostasis GO:0007599 9.37 F2 SERPINC1
4 blood coagulation, intrinsic pathway GO:0007597 9.26 APOH F2
5 positive regulation of blood coagulation GO:0030194 9.16 APOH F2
6 negative regulation of fibrinolysis GO:0051918 8.96 APOH F2
7 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

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74 UMLS via Orphanet
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