SNDNS
MCID: SND002
MIFTS: 50

Sneddon Syndrome (SNDNS)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Sneddon Syndrome

MalaCards integrated aliases for Sneddon Syndrome:

Name: Sneddon Syndrome 57 11 19 58 73 28 53 5 43 14 38 16 71 33
Livedo Reticularis and Cerebrovascular Accidents 57 19 73
Livedo Reticularis-Cerebrovascular Accident Syndrome 19 58
Livedo Racemosa-Cerebrovascular Accident Syndrome 19 58
Ehrmann-Sneddon Syndrome 19 58
Sneddon's Syndrome 19 75
Sndns 57 73
Idiopathic Livedo Reticularis with Systemic Involvement 11
Cerebro-Vascular Lesions and Livedo Reticularis 19
Livedo Racemosa and Cerebrovascular Accidents 19

Characteristics:


Inheritance:

Autosomal dominant 58 , Autosomal recessive 57

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Adult 58

Age Of Death:

adult 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

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


Summaries for Sneddon Syndrome

UniProtKB/Swiss-Prot: 73 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.

MalaCards based summary: Sneddon Syndrome, also known as livedo reticularis and cerebrovascular accidents, is related to antiphospholipid syndrome and central nervous system origin vertigo, 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 Metabolism of proteins and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include skin, heart and bone, and related phenotypes are behavioral abnormality and vertigo

GARD: 19 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.

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 24-Oct-2022)

Disease Ontology: 11 An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has material basis in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11.

Orphanet: 58 Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

Wikipedia: 75 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 242)
# Related Disease Score Top Affiliating Genes
1 antiphospholipid syndrome 30.6 SERPINC1 F5 F2 APOH
2 central nervous system origin vertigo 30.5 SERPINC1 F2
3 cerebrovascular disease 30.3 NOTCH3 F5 F2 APOH ADA2
4 endocarditis 30.2 SERPINC1 F2 APOH
5 pregnancy loss, recurrent 1 30.1 F5 APOH
6 transient cerebral ischemia 30.1 SERPINC1 NOTCH3 F2 APOH
7 cranial nerve palsy 30.1 SERPINC1 F2
8 mitral valve stenosis 30.0 SERPINC1 F2
9 central retinal vein occlusion 30.0 SERPINC1 F5 F2 APOH
10 retinal vein occlusion 30.0 SERPINC1 F5 F2 APOH
11 protein s deficiency 30.0 SERPINC1 F5 F2 APOH
12 dysfibrinogenemia, congenital 30.0 SERPINC1 F5 F2
13 central retinal artery occlusion 29.9 SERPINC1 F2 ADA2
14 nonbacterial thrombotic endocarditis 29.9 SERPINC1 F2 APOH
15 branch retinal artery occlusion 29.9 SERPINC1 F2 APOH
16 buerger disease 29.9 SERPINC1 F2 APOH
17 purpura 29.9 SERPINC1 F2 APOH
18 mitral valve disease 29.9 SERPINC1 F2
19 moyamoya disease 1 29.9 SERPINC1 NOTCH3 F2
20 migraine with aura 29.9 NOTCH3 F5 F2
21 migraine with or without aura 1 29.9 NOTCH3 F2 APOH
22 polyarteritis nodosa 29.7 APOH ADA2
23 livedoid vasculitis 29.7 SERPINC1 F2 APOH ADA2
24 stroke, ischemic 29.7 SERPINC1 NOTCH3 F9 F5 F2 APOH
25 thrombosis 29.4 SERPINC1 F9 F8 F5 F2 APOH
26 intracranial thrombosis 29.4 SERPINC1 F8 F5 F2 APOH
27 thrombophlebitis 29.4 SERPINC1 F8 F5 F2 APOH
28 factor viii deficiency 29.3 SERPINC1 F9 F8 F5 F2
29 thrombophilia 29.3 SERPINC1 F9 F8 F5 F2 APOH
30 retinal artery occlusion 29.3 SERPINC1 F9 F8 F5 F2 APOH
31 thrombophilia due to thrombin defect 29.3 SERPINC1 F9 F8 F5 F2 APOH
32 vascular disease 29.1 SERPINC1 NOTCH3 F8 F5 F2 APOH
33 thrombophilia due to activated protein c resistance 29.1 SERPINC1 F9 F8 F5 F2 APOH
34 thrombocytopenia 28.8 SERPINC1 NOTCH3 F9 F8 F5 F2
35 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 11.4
36 facial dysmorphism, immunodeficiency, livedo, and short stature 10.6
37 vasculitis 10.3
38 meningococcemia 10.3 SERPINC1 F5
39 acanthamoeba keratitis 10.3 F5 APOH
40 homocysteinemia 10.2 F5 F2
41 cerebral sinovenous thrombosis 10.2 F5 F2
42 dementia 10.2
43 vascular dementia 10.2
44 achenbach syndrome 10.2 SERPINC1 F2
45 dic in newborn 10.2 SERPINC1 F2
46 giant hemangioma 10.2 SERPINC1 F2
47 lateral sinus thrombosis 10.2 SERPINC1 F2
48 waterhouse-friderichsen syndrome 10.2 SERPINC1 F2
49 mononeuritis of upper limb and mononeuritis multiplex 10.2 APOH ADA2
50 cavernous sinus thrombosis 10.2 SERPINC1 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 30 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000708
2 vertigo 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002321
3 arterial stenosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100545
4 migraine 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002076
5 memory impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002354
6 cutis marmorata 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000965
7 thromboembolic stroke 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001727
8 hypertension 58 30 Very rare (1%) Frequent (79-30%)
HP:0000822
9 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
10 developmental regression 58 30 Frequent (33%) Frequent (79-30%)
HP:0002376
11 motor delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001270
12 hemiparesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001269
13 dementia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000726
14 visual field defect 58 30 Frequent (33%) Frequent (79-30%)
HP:0001123
15 amaurosis fugax 58 30 Frequent (33%) Frequent (79-30%)
HP:0100576
16 tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001337
17 chorea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002072
18 nephropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000112
19 intracranial hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002170
20 aphasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002381
21 antiphospholipid antibody positivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003613
22 seizure 30 Occasional (7.5%) HP:0001250
23 bicuspid aortic valve 30 Very rare (1%) HP:0001647
24 lymphopenia 30 Very rare (1%) HP:0001888
25 cerebral hemorrhage 30 Very rare (1%) HP:0001342
26 decreased circulating total igm 30 Very rare (1%) HP:0002850
27 atrophic scars 30 Very rare (1%) HP:0001075
28 ischemic stroke 30 Very rare (1%) HP:0002140
29 impaired distal tactile sensation 30 Very rare (1%) HP:0006937
30 livedo reticularis 30 Very rare (1%) HP:0033505
31 livedo racemosa 30 Very rare (1%) HP:0033260
32 mental deterioration 58 30 Frequent (79-30%)
HP:0001268
33 seizures 58 Occasional (29-5%)
34 dysarthria 30 HP:0001260
35 facial palsy 30 HP:0010628
36 vascular skin abnormality 58 Very frequent (99-80%)
37 headache 30 HP:0002315
38 hemiplegia 30 HP:0002301

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 net-like pattern of vessels

Immunology:
low levels of igm
absence of class-switched memory b cells
increased transitional b cells

Cardiovascular Vascular:
hypertension
cerebrovascular ischemic attacks
cerebrovascular hemorrhagic attacks

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

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

Clinical features from OMIM®:

182410 (Updated 24-Oct-2022)

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 Sneddon Syndrome 28 ADA2

Anatomical Context for Sneddon Syndrome

Organs/tissues related to Sneddon Syndrome:

MalaCards : Skin, Heart, Bone, Brain, B Cells, Smooth Muscle, Endothelial

Publications for Sneddon Syndrome

Articles related to Sneddon Syndrome:

(show top 50) (show all 384)
# Title Authors PMID Year
1
Sneddon syndrome associated with two novel ADA2 gene mutations. 62 57 5
31652311 2020
2
Familial Sneddon's syndrome. 62 57 5
12804991 2003
3
Mutant ADA2 in vasculopathies. 57 5
25075847 2014
4
Familial Sneddon's syndrome: clinical, hematologic, and radiographic findings in two brothers. 53 62 57
8145905 1994
5
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. 62 57
18474464 2008
6
Neuropathological findings in Sneddon's syndrome. 62 57
12682330 2003
7
Sneddon's syndrome. A long-term follow-up of 21 patients. 62 57
8466214 1993
8
Sneddon's syndrome: cardiac pathology and antiphospholipid antibodies. 62 57
1934683 1991
9
Sneddon syndrome: another mendelian etiology of stroke. 62 57
3239961 1988
10
Sneddon's syndrome. Case report and literature review. 62 57
3612175 1987
11
Sneddon's syndrome. 62 57
3471198 1986
12
Livedo reticularis and cerebrovascular lesions (Sneddon's syndrome). Clinical, radiological and pathological features in eight cases. 62 57
6652469 1983
13
CEREBRO-VASCULAR LESIONS AND LIVEDO RETICULARIS. 62 57
14278790 1965
14
Familial inflammatory Sneddon's syndrome-case report and review of the literature. 53 62
15340865 2005
15
Sneddon's syndrome and antithrombin III. 53 62
10487010 1999
16
Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. 53 62
10424203 1999
17
Moyamoya syndrome associated with Sneddon's syndrome and antiphospholipid-protein antibodies. 53 62
17895140 1999
18
Livedo reticularis and cerebrovascular accidents (Sneddon's syndrome) as a clinical expression of antiphospholipid syndrome. 53 62
10343946 1999
19
[Antiphospholipid antibodies in a female patient with the Sneddon syndrome]. 53 62
9769746 1998
20
Study of antiphospholipid antibodies in a patient with Sneddon's syndrome and her family. 53 62
8165682 1994
21
Sneddon's syndrome with anticardiolipin antibodies--complications and treatment. 53 62
8310361 1993
22
Anti-beta 2-glycoprotein I antibodies in Sneddon's syndrome. 53 62
8513196 1993
23
Sneddon's syndrome, anticardiolipin antibodies and anticardiolipin cofactor. A case report. 53 62
1414558 1992
24
Sneddon's syndrome associated with anticardiolipin antibody: a case report. 53 62
1441902 1992
25
Anticardiolipin antibodies in Sneddon's syndrome. 53 62
2314589 1990
26
The Relevance of Skin Biopsies in General Internal Medicine: Facts and Myths. 62
35430724 2022
27
Antiphospholipid-negative Sneddon's syndrome: A comprehensive overview of a rare entity. 62
34740467 2022
28
Primary Antiphospholipid Syndrome with Livedo Reticularis is Linked to Female Sex and Stroke and Negatively Associated with Thyroid Disease. 62
34784875 2022
29
Sneddon syndrome: a rare cause of stroke hidden in plain sight. 62
34791592 2021
30
Sneddon syndrome: a comprehensive clinical review of 53 patients. 62
33515066 2021
31
Characteristic imaging features of neurovascular involvement in primary Sneddon's syndrome: an analysis of 12 cases. 62
33047201 2021
32
Concomitant myocardial injury and valvular disease in Sneddon syndrome: a case report. 62
34169222 2021
33
Three cases of Sneddon syndrome: A comparison with lymphocytic thrombophilic arteritis. 62
33314022 2021
34
Coexistence of scleromyxedema and Sneddon syndrome. 62
33912636 2021
35
Sneddon syndrome: under diagnosed disease, complex clinical manifestations and challenging diagnosis. A case-based review. 62
32533291 2021
36
Livedo Racemosa: Clinical, Laboratory, and Histopathological Findings in 33 Patients. 62
31996060 2021
37
A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke. 62
32980981 2021
38
Echocardiographic features in antiphospholipid-negative Sneddon's syndrome and potential association with severity of neurological symptoms or recurrence of strokes: a longitudinal cohort study. 62
31898726 2021
39
Renal involvement in Sneddon's syndrome. 62
36165370 2021
40
Renal involvement in Sneddon syndrome. 62
32234261 2021
41
The diagnostic value of skin biopsies in Sneddon syndrome. 62
34181656 2021
42
Sneddon syndrome: anaesthetic and surgical challenges in cardiac valve surgery. 62
31957552 2020
43
Sneddon's syndrome 62
33070495 2020
44
CNS vasculopathies: Challenging mimickers of primary angiitis of the central nervous system. 62
32859518 2020
45
Freiberg's Infarction as the First Clinical Presentation of Sneddon Syndrome. 62
33531949 2020
46
Mechanisms of kidney disease in Sneddon's syndrome: Case report and literature review
. 62
31661059 2020
47
[Cerebrovascular events, headache and livedoracemosa - diagnosis at a glance?] 62
31853909 2020
48
[Recurrent stroke, acrocyanosis and livedo racemosa: is it always Sneddon's syndrome?] 62
32149383 2020
49
Superficial Siderosis and Microbleed Restricted in Cortex Might Be Correlated to Atrophy and Cognitive Decline in Sneddon's Syndrome. 62
33041979 2020
50
Livedo racemosa: a cutaneous manifestation of Sneddon's syndrome. 62
31753828 2019

Variations for Sneddon Syndrome

ClinVar genetic disease variations for Sneddon Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADA2 NM_001282225.2(ADA2):c.1040del (p.Asp347fs) DEL Pathogenic
1033820 rs2062064773 GRCh37: 22:17669270-17669270
GRCh38: 22:17188380-17188380
2 ADA2 NM_001282225.2(ADA2):c.631TTC[1] (p.Phe212del) MICROSAT Pathogenic
1171011 GRCh37: 22:17684570-17684572
GRCh38: 22:17203680-17203682
3 ADA2 NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) SNV Pathogenic
189343 rs770689762 GRCh37: 22:17663586-17663586
GRCh38: 22:17182696-17182696
4 ADA2 NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser) SNV Pathogenic
1171012 GRCh37: 22:17663508-17663508
GRCh38: 22:17182618-17182618
5 ADA2 NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) SNV Pathogenic
1076271 GRCh37: 22:17690429-17690429
GRCh38: 22:17209539-17209539
6 ADA2 NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) SNV Pathogenic
189342 rs775440641 GRCh37: 22:17669232-17669232
GRCh38: 22:17188342-17188342
7 ADA2 NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) SNV Likely Pathogenic
Likely Pathogenic
120303 rs77563738 GRCh37: 22:17687997-17687997
GRCh38: 22:17207107-17207107
8 ADA2 NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp) SNV Likely Pathogenic
1027878 rs748893301 GRCh37: 22:17662779-17662779
GRCh38: 22:17181889-17181889
9 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:

73
# 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
13.51 SERPINC1 F9 F8 F5 F2 ARSA
2
Show member pathways
12.8 SERPINC1 F9 F8 F5 F2 APOH
3
Show member pathways
12.26 SERPINC1 F9 F8 F5 F2
4
Show member pathways
11.95 SERPINC1 F5 F2
5
Show member pathways
11.48 SERPINC1 F9 F8 F5 F2
6
Show member pathways
11.29 F9 F8 F2 ARSA
7
Show member pathways
10.89 F9 F2
8
Show member pathways
10.4 F9 F8

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 10.11 SERPINC1 NOTCH3 F9 F8 F5 F2
2 extracellular space GO:0005615 9.89 ADA2 APOH ARSA CFAP58 F2 F5
3 Golgi lumen GO:0005796 9.73 F9 F8 F2
4 serine-type endopeptidase complex GO:1905370 9.62 F9 F2
5 endoplasmic reticulum lumen GO:0005788 9.4 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 Notch signaling pathway GO:0007219 9.91 NRIP2 NOTCH3 CFAP58
2 blood coagulation GO:0007596 9.85 SERPINC1 F9 F8 F5 F2
3 positive regulation of blood coagulation GO:0030194 9.71 F2 APOH
4 negative regulation of fibrinolysis GO:0051918 9.67 F2 APOH
5 blood coagulation, intrinsic pathway GO:0007597 9.62 F8 APOH
6 regulation of blood coagulation GO:0030193 9.56 APOH F2 SERPINC1
7 hemostasis GO:0007599 9.35 SERPINC1 F9 F8 F5 F2
8 regulation of body fluid levels GO:0050878 8.92 F9 F8 F5 F2

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.23 SERPINC1 F2 APOH ADA2

Sources for Sneddon Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....