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 54 12 50 56 71 52 42 14 69
Idiopathic Livedo Reticularis with Systemic Involvement 12 29
Livedo Reticularis-Cerebrovascular Accident Syndrome 50 56
Livedo Racemosa-Cerebrovascular Accident Syndrome 50 56
Livedo Reticularis and Cerebrovascular Accidents 50 71
Ehrmann-Sneddon Syndrome 50 56
Cerebro-Vascular Lesions and Livedo Reticularis 50
Livedo Racemosa and Cerebrovascular Accidents 50
Sneddon's Syndrome 50
Sndds 71

Characteristics:

Orphanet epidemiological data:

56
sneddon syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in young adulthood
incidence of 4 per million per year
secondary features include arterial hypertension and renal involvement
women are more often affected
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 : 50 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 idiopathic livedo reticularis with systemic involvement, is related to central retinal artery occlusion and adenosine deaminase 2 deficiency, and has symptoms including chorea, tremor and migraine. 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.

OMIM : 54
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.

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 131)
id Related Disease Score Top Affiliating Genes
1 central retinal artery occlusion 28.5 APOH F2 SERPINC1
2 adenosine deaminase 2 deficiency 11.5
3 stoll alembik finck syndrome 10.3 F5 SERPINC1
4 mental retardation dysmorphism hypogonadism diabetes 10.2 F5 SERPINC1
5 mcgillivray syndrome 10.2 APOH F5
6 accessory deep peroneal nerve 10.2 APOH F5
7 pregnancy loss, recurrent 1 10.2 APOH F5
8 cavernous lymphangioma 10.1 APOH F5
9 partial central choroid dystrophy 10.1 ADA2 APOH
10 myxomatous pattern testicular yolk sac tumor 10.1 APOH F5
11 cerebritis 10.0
12 variably protease-sensitive prionopathy 10.0 F2 F5
13 pyridoxine deficiency anemia 10.0 F2 SERPINC1
14 fragile x syndrome type 2 10.0 F2 SERPINC1
15 myiasis 10.0 F2 SERPINC1
16 egg allergy 10.0 F2 SERPINC1
17 rectum neuroendocrine neoplasm 10.0 F2 SERPINC1
18 syndactyly, mesoaxial synostotic, with phalangeal reduction 10.0 F2 SERPINC1
19 bile duct cystadenoma 10.0 F2 F5
20 midline cystocele 10.0 F2 SERPINC1
21 littre gland carcinoma 10.0 F2 SERPINC1
22 retinitis 9.9
23 pilomyxoid astrocytoma 9.9 F2 SERPINC1
24 inferolateral myocardial infarct 9.9 F2 SERPINC1
25 lymphatic system cancer 9.9 F2 SERPINC1
26 primary pigmented nodular adrenocortical disease 9.9 F2 F5
27 angelucci's syndrome 9.9 F2 SERPINC1
28 facioscapulohumeral muscular dystrophy 1 9.9 F2 F5
29 primary cerebellar degeneration 9.9 F5 SERPINC1
30 lethal congenital contracture syndrome 9.9 F2 SERPINC1
31 lujo hemorrhagic fever 9.9 F2 SERPINC1
32 essential thrombocythemia 9.9 F2 SERPINC1
33 factor v deficiency 9.9 F2 F5
34 homologous wasting disease 9.9 F2 F5
35 childhood brain stem glioma 9.9 F2 SERPINC1
36 hepadnavirus infection 9.9 F2 SERPINC1
37 inherited blood coagulation disease 9.9 F2 F5
38 priapism 9.9 F5 SERPINC1
39 irak4 deficiency 9.9 F2 F5
40 landau-kleffner syndrome 9.9 APOH F2
41 hepatocellular adenoma 9.9 F2 F5
42 capillary hemangioma 9.9 F2 SERPINC1
43 acute lymphocytic leukemia 9.8 F2 F5
44 prostatitis 9.8 APOH F2
45 moderately severe hemophilia b 9.8 F2 F5
46 thrombomodulin anomalies, familial 9.8 F2 F5
47 bernard-soulier syndrome, type a2 9.8 F2 SERPINC1
48 elejalde disease 9.8 APOH F2
49 scapuloperoneal myopathy, x-linked dominant 9.8 F2 SERPINC1
50 retinal artery occlusion 9.8

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:

54

Neurologic- Central Nervous System:
dysarthria
tremor
seizures
hemiplegia
cognitive decline
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:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002072
2 tremor 56 32 occasional (7.5%) Occasional (29-5%) HP:0001337
3 migraine 56 32 hallmark (90%) Very frequent (99-80%) HP:0002076
4 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0001324
6 cutis marmorata 56 32 hallmark (90%) Very frequent (99-80%) HP:0000965
7 motor delay 56 32 frequent (33%) Frequent (79-30%) HP:0001270
8 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
9 memory impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002354
10 hemiparesis 56 32 frequent (33%) Frequent (79-30%) HP:0001269
11 aphasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002381
12 dementia 56 32 frequent (33%) Frequent (79-30%) HP:0000726
13 vertigo 56 32 hallmark (90%) Very frequent (99-80%) HP:0002321
14 developmental regression 56 32 frequent (33%) Frequent (79-30%) HP:0002376
15 mental deterioration 56 32 Frequent (79-30%) HP:0001268
16 nephropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000112
17 visual field defect 56 32 frequent (33%) Frequent (79-30%) HP:0001123
18 intracranial hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002170
19 behavioral abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0000708
20 amaurosis fugax 56 32 frequent (33%) Frequent (79-30%) HP:0100576
21 arterial stenosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100545
22 thromboembolic stroke 56 32 hallmark (90%) Very frequent (99-80%) HP:0001727
23 antiphospholipid antibody positivity 56 32 occasional (7.5%) Occasional (29-5%) HP:0003613
24 dysarthria 32 HP:0001260
25 headache 32 HP:0002315
26 hemiplegia 32 HP:0002301
27 stroke 32 HP:0001297
28 facial palsy 32 HP:0010628
29 vascular skin abnormality 56 Very frequent (99-80%)

UMLS symptoms related to Sneddon Syndrome:


headache, hemiplegia, seizures, tremor

Drugs & Therapeutics for Sneddon Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases Recruiting NCT01952275

Search NIH Clinical Center for Sneddon Syndrome

Cochrane evidence based reviews: sneddon syndrome

Genetic Tests for Sneddon Syndrome

Genetic tests related to Sneddon Syndrome:

id Genetic test Affiliating Genes
1 Idiopathic Livedo Reticularis with Systemic Involvement 29

Anatomical Context for Sneddon Syndrome

MalaCards organs/tissues related to Sneddon Syndrome:

39
Skin, Heart, Brain, Neutrophil, Bone, Smooth Muscle

Publications for Sneddon Syndrome

Articles related to Sneddon Syndrome:

(show all 47)
id Title Authors Year
1
Psychosis with suicide attempt in Sneddon syndrome. ( 27891710 )
2016
2
Treatment of Skin Ulcers Secondary to Sneddon Syndrome With Alprostadil (Prostaglandin E1). ( 26982963 )
2016
3
The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review. ( 27084221 )
2016
4
Sneddon syndrome - imaging findings. ( 26486491 )
2015
5
Strokes in Sneddon syndrome without antiphospholipid antibodies. ( 25628239 )
2015
6
Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis. ( 24513089 )
2014
7
Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case. ( 25341280 )
2014
8
Cardiac valve degeneration in a patient with Sneddon syndrome. ( 25479820 )
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
Sneddon syndrome associated with Protein S deficiency. ( 22565458 )
2012
12
Transient retinal venous and arterial occlusive events in a case of sneddon syndrome. ( 25389744 )
2012
13
Improvement of neurological symptoms and memory and emotional status in a case of seronegative Sneddon syndrome with cyclophosphamide. ( 20444540 )
2010
14
Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. ( 20849802 )
2010
15
Detection of lupus anticoagulant and successful anticoagulation in familial Sneddon syndrome. ( 20237126 )
2010
16
Perioperative management of Sneddon syndrome during thyroidectomy. ( 18929289 )
2008
17
The Sneddon syndrome. ( 18541809 )
2008
18
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. ( 18474464 )
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
[Clotting factor VIII in Sneddon syndrome]. ( 14598591 )
2003
23
The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. ( 12640088 )
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
General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome). ( 1947326 )
1991
39
Sneddon syndrome presenting with hemicranic attacks: a case report. ( 1815538 )
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
id 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
id 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:

id 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:

id 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:

id 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
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34 ICD10 via Orphanet
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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