SNDNS
MCID: SND002
MIFTS: 47

Sneddon Syndrome (SNDNS)

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 20 58 72 54 44 15 17 70
Idiopathic Livedo Reticularis with Systemic Involvement 12 29 6
Livedo Reticularis and Cerebrovascular Accidents 57 20 72
Livedo Reticularis-Cerebrovascular Accident Syndrome 20 58
Livedo Racemosa-Cerebrovascular Accident Syndrome 20 58
Ehrmann-Sneddon Syndrome 20 58
Sneddon's Syndrome 73 20
Sndns 57 72
Cerebro-Vascular Lesions and Livedo Reticularis 20
Livedo Racemosa and Cerebrovascular Accidents 20
Syndrome, Sneddon 39

Characteristics:

Orphanet epidemiological data:

58
sneddon syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
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:
Inheritance autosomal recessive inheritance sporadic
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare skin diseases


Summaries for Sneddon Syndrome

GARD : 20 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 anticoagulation (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 antiphospholipid syndrome and pregnancy loss, recurrent 1, 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 Metabolism of proteins and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include skin, cortex and smooth muscle, and related phenotypes are behavioral abnormality and vertigo

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Sneddon syndrome: An autosomal recessive, 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 : 73 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 233)
# Related Disease Score Top Affiliating Genes
1 antiphospholipid syndrome 30.4 SERPINC1 F5 F2 APOH
2 pregnancy loss, recurrent 1 30.1 F5 APOH
3 branch retinal artery occlusion 30.0 SERPINC1 F2 APOH
4 central retinal artery occlusion 30.0 SERPINC1 F2
5 endocarditis 30.0 SERPINC1 F2 APOH
6 mitral valve stenosis 29.9 SERPINC1 F2
7 syphilis 29.8 F2 APOH
8 purpura 29.8 SERPINC1 F2 APOH
9 livedoid vasculitis 29.7 SERPINC1 F2 APOH ADA2
10 nonbacterial thrombotic endocarditis 29.7 SERPINC1 F2 APOH
11 infective endocarditis 29.7 F2 APOH
12 retinal vein occlusion 29.7 SERPINC1 F5 F2 APOH
13 protein s deficiency 29.7 SERPINC1 F5 F2 APOH
14 cerebrovascular disease 29.7 F8 F5 F2 APOH ADA2
15 stroke, ischemic 29.3 SERPINC1 F9 F5 F2 APOH
16 central retinal vein occlusion 29.1 SERPINC1 F8 F5 F2 APOH
17 intracranial thrombosis 28.8 SERPINC1 F8 F5 F2 APOH
18 thrombophilia due to activated protein c resistance 28.8 SERPINC1 F8 F5 F2 APOH
19 thrombophlebitis 28.8 SERPINC1 F8 F5 F2 APOH
20 thrombophilia due to thrombin defect 28.8 SERPINC1 F8 F5 F2 APOH
21 vascular disease 28.8 SERPINC1 F8 F5 F2 APOH
22 thrombosis 28.7 SERPINC1 F9 F8 F5 F2 APOH
23 retinal artery occlusion 28.6 SERPINC1 F9 F8 F5 F2 APOH
24 thrombophilia 28.5 SERPINC1 F9 F8 F5 F2 APOH
25 thrombocytopenia 28.3 SERPINC1 F9 F8 F5 F2 APOH
26 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 11.2
27 vasculitis 10.3
28 sticky platelet syndrome 10.2 SERPINC1 F5
29 may-thurner syndrome 10.2 F5 APOH
30 vascular dementia 10.2
31 acanthamoeba keratitis 10.2 F5 APOH
32 arteritic anterior ischemic optic neuropathy 10.2 F5 F2
33 meningococcemia 10.2 SERPINC1 F5
34 catastrophic antiphospholipid syndrome 10.2 F5 APOH
35 paracetamol poisoning 10.2 F5 F2
36 puerperal pulmonary embolism 10.2 SERPINC1 APOH
37 aspirin resistance 10.2 F5 F2
38 sudden sensorineural hearing loss 10.2 F5 F2
39 cerebral atrophy 10.2
40 lateral sinus thrombosis 10.2 SERPINC1 F2
41 migraine with or without aura 1 10.2
42 giant hemangioma 10.2 SERPINC1 F2
43 dic in newborn 10.2 SERPINC1 F2
44 mediastinitis 10.2 F5 F2
45 waterhouse-friderichsen syndrome 10.2 SERPINC1 F2
46 cavernous sinus thrombosis 10.2 SERPINC1 F2
47 thoracic outlet syndrome 10.2 SERPINC1 F2
48 abducens nerve disease 10.1 SERPINC1 F2
49 cholesterol embolism 10.1 SERPINC1 F2
50 cryptogenic cirrhosis 10.1 F5 F2

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



Diseases related to Sneddon Syndrome

Symptoms & Phenotypes for Sneddon Syndrome

Human phenotypes related to Sneddon Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000708
2 vertigo 58 31 hallmark (90%) Very frequent (99-80%) HP:0002321
3 arterial stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100545
4 migraine 58 31 hallmark (90%) Very frequent (99-80%) HP:0002076
5 memory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002354
6 cutis marmorata 58 31 hallmark (90%) Very frequent (99-80%) HP:0000965
7 thromboembolic stroke 58 31 hallmark (90%) Very frequent (99-80%) HP:0001727
8 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
9 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
10 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
11 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
12 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
13 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
14 visual field defect 58 31 frequent (33%) Frequent (79-30%) HP:0001123
15 amaurosis fugax 58 31 frequent (33%) Frequent (79-30%) HP:0100576
16 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
17 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
18 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
19 intracranial hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002170
20 aphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002381
21 antiphospholipid antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003613
22 seizure 31 occasional (7.5%) HP:0001250
23 mental deterioration 58 31 Frequent (79-30%) HP:0001268
24 seizures 58 Occasional (29-5%)
25 dysarthria 31 HP:0001260
26 facial palsy 31 HP:0010628
27 vascular skin abnormality 58 Very frequent (99-80%)
28 stroke 31 HP:0001297
29 headache 31 HP:0002315
30 hemiplegia 31 HP:0002301

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
dysarthria
tremor
facial palsy
hemiplegia
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 (Updated 05-Apr-2021)

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:

40
Skin, Cortex, Smooth Muscle, Endothelial

Publications for Sneddon Syndrome

Articles related to Sneddon Syndrome:

(show top 50) (show all 168)
# Title Authors PMID Year
1
Mutant ADA2 in vasculopathies. 6 57
25075847 2014
2
Familial Sneddon's syndrome. 57 6
12804991 2003
3
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. 57 61
18474464 2008
4
Familial Sneddon's syndrome: clinical, hematologic, and radiographic findings in two brothers. 54 57
8145905 1994
5
Sneddon syndrome: another mendelian etiology of stroke. 61 57
3239961 1988
6
Neuropathological findings in Sneddon's syndrome. 57
12682330 2003
7
Sneddon's syndrome. A long-term follow-up of 21 patients. 57
8466214 1993
8
Sneddon's syndrome: cardiac pathology and antiphospholipid antibodies. 57
1934683 1991
9
Sneddon's syndrome. Case report and literature review. 57
3612175 1987
10
Sneddon's syndrome. 57
3471198 1986
11
Livedo reticularis and cerebrovascular lesions (Sneddon's syndrome). Clinical, radiological and pathological features in eight cases. 57
6652469 1983
12
CEREBRO-VASCULAR LESIONS AND LIVEDO RETICULARIS. 57
14278790 1965
13
Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. 61 54
10424203 1999
14
[Antiphospholipid antibodies in a female patient with the Sneddon syndrome]. 61 54
9769746 1998
15
Sneddon syndrome: under diagnosed disease, complex clinical manifestations and challenging diagnosis. A case-based review. 61
32533291 2021
16
A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke. 61
32980981 2021
17
Sneddon syndrome: a comprehensive clinical review of 53 patients. 61
33515066 2021
18
Renal involvement in Sneddon syndrome. 61
32234261 2021
19
Three cases of Sneddon syndrome: A comparison with lymphocytic thrombophilic arteritis. 61
33314022 2020
20
Sneddon syndrome: anaesthetic and surgical challenges in cardiac valve surgery. 61
31957552 2020
21
Freiberg's Infarction as the First Clinical Presentation of Sneddon Syndrome. 61
33531949 2020
22
Sneddon syndrome associated with two novel ADA2 gene mutations. 61
31652311 2020
23
Superficial Siderosis and Microbleed Restricted in Cortex Might Be Correlated to Atrophy and Cognitive Decline in Sneddon's Syndrome. 61
33041979 2020
24
Teaching NeuroImages: Sneddon syndrome. 61
31527109 2019
25
Sneddon Syndrome: A Case Report Exploring the Current Challenges Faced with Diagnosis and Management. 61
31966033 2019
26
Sneddon Syndrome: A Comprehensive Overview. 61
31160219 2019
27
Sneddon syndrome. 61
31762878 2019
28
Long-term follow-up of early-onset Sneddon syndrome: A case report. 61
30306117 2018
29
[Non-infective endocarditis]. 61
29903680 2018
30
Sneddon syndrome and non-bacterial thrombotic endocarditis: a clinicopathological study. 61
29980854 2018
31
Aortic valve replacement in a patient with Sneddon syndrome. 61
29971819 2018
32
Cognitive and psychiatric changes as first clinical presentation in Sneddon syndrome. 61
29988314 2018
33
Vasculopathies, cutaneous necrosis and emergency in dermatology. 61
28845953 2017
34
BRANCH RETINAL ARTERY OCCLUSION ASSOCIATED WITH PARACENTRAL ACUTE MIDDLE MACULOPATHY IN A PATIENT WITH LIVEDO RETICULARIS. 61
27490977 2017
35
Occlusive Nonvasculitic Vasculopathy. 61
27759698 2017
36
Psychosis with suicide attempt in Sneddon syndrome. 61
27891710 2017
37
Idiopathic livedo racemosa presenting with splenomegaly and diffuse lymphadenopathy. 61
27874892 2016
38
[Non-Hodgkin's lymphoma presenting as Sneddon syndrome]. 61
26961395 2016
39
Treatment of Skin Ulcers Secondary to Sneddon Syndrome With Alprostadil (Prostaglandin E1). 61
26982963 2016
40
The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review. 61
27084221 2016
41
Sneddon syndrome--imaging findings. 61
26486491 2016
42
[A case of Sneddon syndrome started with 
neurological symptoms]. 61
26408629 2015
43
Cardiac valve degeneration in a patient with Sneddon syndrome. 61
25479820 2015
44
Strokes in Sneddon syndrome without antiphospholipid antibodies. 61
25628239 2015
45
When less is more: primary immunodeficiency with an autoinflammatory kick. 61
25337682 2014
46
Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case. 61
25341280 2014
47
Neurological presentations of the antiphospholipid syndrome: three illustrative cases. 61
24464766 2014
48
Sneddon syndrome presenting with unilateral third cranial nerve palsy. 61
24051423 2014
49
Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis. 61
24513089 2014
50
[Sneddon syndrome: a rare cause of vascular dementia]. 61
22763204 2013

Variations for Sneddon Syndrome

ClinVar genetic disease variations for Sneddon Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADA2 NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) SNV Pathogenic 189342 rs775440641 GRCh37: 22:17669232-17669232
GRCh38: 22:17188342-17188342
2 ADA2 NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) SNV Pathogenic 189343 rs770689762 GRCh37: 22:17663586-17663586
GRCh38: 22:17182696-17182696
3 ADA2 NM_001282225.2(ADA2):c.1040del (p.Asp347fs) Deletion Pathogenic 1033820 GRCh37: 22:17669270-17669270
GRCh38: 22:17188380-17188380
4 ADA2 NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp) SNV Likely pathogenic 1027878 GRCh37: 22:17662779-17662779
GRCh38: 22:17181889-17181889
5 ADA2 NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) SNV Uncertain significance 582996 rs61747288 GRCh37: 22:17690374-17690374
GRCh38: 22:17209484-17209484

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

72
# Symbol AA change Variation ID SNP ID
1 ADA2 p.Val119Ala VAR_072562
2 ADA2 p.Gly142Ser VAR_072563

Expression for Sneddon Syndrome

Search GEO for disease gene expression data for Sneddon Syndrome.

Pathways for Sneddon Syndrome

Pathways related to Sneddon Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 F9 F8 F5 F2 ARSA ADA2
2
Show member pathways
12.81 SERPINC1 F9 F8 F5 F2 APOH
3
Show member pathways
12.29 SERPINC1 F9 F8 F5 F2
4
Show member pathways
11.56 SERPINC1 F9 F8 F5 F2
5
Show member pathways
11.53 F9 F2 ARSA
6 11.18 SERPINC1 F9 F8 F5 F2
7 10.54 F9 F2

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 9.76 SERPINC1 F9 F8 F5 F2 ARSA
2 collagen-containing extracellular matrix GO:0062023 9.56 SERPINC1 F9 F2 APOH
3 extracellular space GO:0005615 9.56 SERPINC1 F9 F8 F5 F2 ARSA
4 COPII-coated ER to Golgi transport vesicle GO:0030134 9.32 F8 F5
5 endoplasmic reticulum lumen GO:0005788 9.1 SERPINC1 F9 F8 F5 F2 ARSA

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 9.67 SERPINC1 F5 F2 ADA2
2 ER to Golgi vesicle-mediated transport GO:0006888 9.62 F9 F8 F5 F2
3 platelet degranulation GO:0002576 9.61 F8 F5 APOH
4 blood coagulation GO:0007596 9.55 SERPINC1 F9 F8 F5 F2
5 acute-phase response GO:0006953 9.48 F8 F2
6 positive regulation of blood coagulation GO:0030194 9.46 F2 APOH
7 regulation of blood coagulation GO:0030193 9.43 SERPINC1 F2 APOH
8 negative regulation of fibrinolysis GO:0051918 9.4 F2 APOH
9 blood coagulation, intrinsic pathway GO:0007597 9.26 F9 F8 F2 APOH
10 hemostasis GO:0007599 9.02 SERPINC1 F9 F8 F5 F2

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

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 F8 F5
2 heparin binding GO:0008201 8.92 SERPINC1 F2 APOH ADA2

Sources for Sneddon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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