SNDDS
MCID: SND002
MIFTS: 44

Sneddon Syndrome (SNDDS) malady

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

Aliases & Classifications for Sneddon Syndrome

Aliases & Descriptions for Sneddon Syndrome:

Name: Sneddon Syndrome 54 12 50 56 66 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 66
Ehrmann-Sneddon Syndrome 50 56
Cerebro-Vascular Lesions and Livedo Reticularis 50
Livedo Racemosa and Cerebrovascular Accidents 50
Sneddon's Syndrome 50
Sndds 66

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;

HPO:

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


Classifications:



External Ids:

OMIM 54 182410
Disease Ontology 12 DOID:13096
MeSH 42 D018860
SNOMED-CT 64 238776001
Orphanet 56 ORPHA820
MESH via Orphanet 43 D018860
UMLS via Orphanet 70 C0282492
ICD10 via Orphanet 34 I77.8
MedGen 40 C0282492
UMLS 69 C0282492

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 seizures, vertigo and tremor. 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, heart and brain.

OMIM : 54 Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade... (182410) more...

UniProtKB/Swiss-Prot : 66 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 105)
id Related Disease Score Top Affiliating Genes
1 central retinal artery occlusion 29.1 APOH F2 SERPINC1
2 adenosine deaminase 2 deficiency 11.6
3 hypertrichosis 10.1 APOH SERPINC1
4 esotropia 10.1 ADA2 APOH
5 neuronopathy, distal hereditary motor, type iid 10.1 APOH SERPINC1
6 czech dysplasia 10.1 APOH SERPINC1
7 spinal multifocal clear cell meningioma 10.0 APOH SERPINC1
8 miller-dieker lissencephaly syndrome 10.0 F2 SERPINC1
9 influenza 10.0 F2 SERPINC1
10 freiberg's disease 10.0 F2 SERPINC1
11 pancreatic ductal carcinoma 10.0 F2 SERPINC1
12 mixed epithelial tumor of ovary 10.0 F2 SERPINC1
13 chorioretinal scar 10.0 F2 SERPINC1
14 exophthalmic ophthalmoplegia 10.0 APOH SERPINC1
15 mixed hepatoblastoma 10.0 F2 SERPINC1
16 peanut allergy 10.0 F2 SERPINC1
17 dmd-related dilated cardiomyopathy 10.0 F2 SERPINC1
18 midline cystocele 10.0 F2 SERPINC1
19 schwannoma of jugular foramen 10.0 F2 SERPINC1
20 neuroaxonal dystrophy 10.0 F2 SERPINC1
21 cerebellar astrocytoma 10.0 F2 SERPINC1
22 periosteal chondrosarcoma 10.0 F2 SERPINC1
23 angelucci's syndrome 10.0 F2 SERPINC1
24 ductal carcinoma in situ 10.0 F2 SERPINC1
25 cerebritis 10.0
26 essential thrombocythemia 10.0 F2 SERPINC1
27 ovarian papillary cystadenoma 10.0 F2 SERPINC1
28 epstein-barr virus hepatitis 10.0 F2 SERPINC1
29 eagle syndrome 10.0 F2 SERPINC1
30 hereditary alpha tryptasemia syndrome 10.0 F2 SERPINC1
31 lubinsky syndrome 10.0 APOH F2
32 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.0 APOH F2
33 vaginal discharge 10.0 F2 SERPINC1
34 scapuloperoneal myopathy, x-linked dominant 10.0 F2 SERPINC1
35 landau-kleffner syndrome 10.0 APOH F2
36 hendra virus infection 10.0 APOH F2
37 alpha-2-plasmin inhibitor deficiency 10.0 F2 SERPINC1
38 prostatitis 10.0 APOH F2
39 capillary hemangioma 10.0 F2 SERPINC1
40 alcoholic gastritis 10.0 F2 SERPINC1
41 hennekam lymphangiectasia-lymphedema syndrome 2 10.0 F2 SERPINC1
42 glutathionuria 10.0 APOH F2
43 hemolytic-uremic syndrome 10.0 F2 SERPINC1
44 oguchi disease-2 9.9 F2 SERPINC1
45 retinitis 9.9
46 aids dementia complex 9.9 F2 SERPINC1
47 autoimmune disease of central nervous system 9.9 APOH F2
48 pancreas adenocarcinoma 9.9 F2 SERPINC1
49 brill-zinsser disease 9.9 F2 SERPINC1
50 welander distal myopathy 9.9 APOH SERPINC1

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



Diseases related to Sneddon Syndrome

Symptoms & Phenotypes for Sneddon Syndrome

Symptoms by clinical synopsis from OMIM:

182410

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

UMLS symptoms related to Sneddon Syndrome:


headache, hemiplegia, seizures, tremor

Drugs & Therapeutics for Sneddon Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
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, Bone, Smooth Muscle

Publications for Sneddon Syndrome

Articles related to Sneddon Syndrome:

(show all 47)
id Title Authors Year
1
The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review. ( 27084221 )
2016
2
Treatment of Skin Ulcers Secondary to Sneddon Syndrome With Alprostadil (Prostaglandin E1). ( 26982963 )
2016
3
Psychosis with suicide attempt in Sneddon syndrome. ( 27891710 )
2016
4
Strokes in Sneddon syndrome without antiphospholipid antibodies. ( 25628239 )
2015
5
Sneddon syndrome - imaging findings. ( 26486491 )
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
A suicide attempt in a context of bipolar symptoms leading to a diagnosis of Sneddon syndrome. ( 24026725 )
2013
10
Sneddon Syndrome Presenting With Unilateral Third Cranial Nerve Palsy. ( 24051423 )
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
Detection of lupus anticoagulant and successful anticoagulation in familial Sneddon syndrome. ( 20237126 )
2010
15
Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. ( 20849802 )
2010
16
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. ( 18474464 )
2008
17
The Sneddon syndrome. ( 18541809 )
2008
18
Perioperative management of Sneddon syndrome during thyroidectomy. ( 18929289 )
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
Factor V Leiden mutation in Sneddon syndrome. ( 12765305 )
2003
23
Sneddon syndrome revealing dysfibrinogenemia. ( 12839611 )
2003
24
[Clotting factor VIII in Sneddon syndrome]. ( 14598591 )
2003
25
The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. ( 12640088 )
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
Sneddon syndrome: a diagnosis you do not want to miss. ( 2121654 )
1990
42
Cutaneous thrombosis, cerebrovascular thrombosis, and lupus anticoagulant--the Sneddon syndrome. Report of 10 cases. ( 2109736 )
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:

66
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 ARSA F2 SERPINC1
2 endoplasmic reticulum lumen GO:0005788 9.33 ARSA F2 SERPINC1
3 azurophil granule lumen GO:0035578 9.26 ADA2 ARSA
4 extracellular space GO:0005615 9.02 ADA2 APOH ARSA F2 SERPINC1

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

id 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:

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
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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