MCID: SND002
MIFTS: 46

Sneddon Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Bone diseases, Skin diseases categories

Aliases & Classifications for Sneddon Syndrome

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Sources:
49OMIM, 10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 22GeneTests, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Sneddon Syndrome:

Name: Sneddon Syndrome 49 10 45 23 47 12 51 65 36 67
Livedo Reticularis and Cerebrovascular Accidents 45 51 67
Childhood-Onset Polyarteritis Nodosa 45 22 23
Ada2 Deficiency 45 22 23
Adenosine Deaminase 2 Deficiency 45 23
Dada2 45 23
Idiopathic Livedo Reticularis with Systemic Involvement 10
 
Cerebro-Vascular Lesions and Livedo Reticularis 45
Livedo Racemosa and Cerebrovascular Accidents 51
Ehrmann-Sneddon Syndrome 51
Sneddon's Syndrome 45
Deficiency of Ada2 23
Sndds 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
sneddon syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult


External Ids:

OMIM49 182410
Disease Ontology10 DOID:13096
MeSH36 D018860
Orphanet51 820
SNOMED-CT59 238776001
ICD10 via Orphanet28 I77.8
MESH via Orphanet37 D018860
UMLS via Orphanet66 C0282492
MedGen34 C0282492

Summaries for Sneddon Syndrome

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UniProtKB/Swiss-Prot:67 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.

MalaCards based summary: Sneddon Syndrome, also known as livedo reticularis and cerebrovascular accidents, is related to retinitis and central retinal vein occlusion, and has symptoms including behavioral abnormality, cutis marmorata and migraine. An important gene associated with Sneddon Syndrome is CECR1 (Cat Eye Syndrome Chromosome Region, Candidate 1), and among its related pathways are Collagen biosynthesis and modifying enzymes and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include skin, heart and brain.

NIH Rare Diseases:45 Sneddon syndrome is a progressive condition characterized by livedo reticularis (bluish net-like patterns of discoloration on the skin) and neurological abnormalities. symptoms may include headache, dizziness, high blood pressure, heart disease, mini-strokes and/or stroke. reduced blood flow to the brain may cause lesions to develop within the central nervous system. this can lead to reduced mental capacity, memory loss and other neurological symptoms. the exact cause of sneddon syndrome is unknown. some familial cases have been described. it has also been associated with obliterating vasculitis and antiphospholipid antibody syndrome.   last updated: 2/22/2012

Genetics Home Reference:23 Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues, particularly the blood vessels (vasculitis). Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family.

OMIM:49 Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade... (182410) more...

Related Diseases for Sneddon Syndrome

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Diseases related to Sneddon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis30.3APOH, F5, SERPINC1
2central retinal vein occlusion29.8APOH, F5, SERPINC1
3cerebritis10.4
4vasculitis due to ada2 deficiency10.4
5antiphospholipid syndrome10.2
6retinal artery occlusion10.2
7polyarteritis nodosa, childhood-onset10.2
8polyarteritis nodosa10.2
9cutaneous polyarteritis nodosa10.2
10intracranial structure hemangioma10.1F5, SERPINC1
11sertoli cell tumor10.1F5, SERPINC1
12maxillary sinus cholesteatoma10.1F5, SERPINC1
13mitral valve insufficiency10.1F5, SERPINC1
14systemic lupus erythematosus10.1
15retinal vein occlusion10.1
16transient global amnesia10.1
17central retinal artery occlusion10.1
18protein s deficiency10.1
19cranial nerve palsy10.1
20dementia10.1
21lupus erythematosus10.1
22vasculitis10.1
23dysfibrinogenemia10.1
24angiomatosis10.1
25encephalopathy10.1
26louse-borne relapsing fever10.1F5, SERPINC1
27cavernous sinus thrombosis10.1F5, SERPINC1
28meningoencephalocele10.1F5, SERPINC1
29hepatoblastoma10.1F5, SERPINC1
30acquired hypoprothrombinemia10.1F5, F8
31fowler's syndrome10.1F8, SERPINC1
32venous insufficiency10.1F5, SERPINC1
33acquired hemophilia a10.1F5, F8
34dysgnathia complex10.1F5, SERPINC1
35inner ear disease10.1F5, SERPINC1
36factor v and factor viii, combined deficiency of10.1F5, F8
37dubowitz syndrome10.1F5, F8
38bernard-soulier syndrome, type a210.1F5, SERPINC1
39factor xi deficiency, autosomal recessive10.0F5, F8
40fungal esophagitis10.0F5, SERPINC1
41adult choroid plexus cancer10.0F5, F8
42skeletal muscle regeneration10.0F5, F8
43blue drum syndrome10.0F5, SERPINC1
44moderately severe hemophilia a10.0F5, F8
45heterotopia, periventricular10.0F5, F8
46spinocerebellar ataxia 2710.0F5, SERPINC1
47osteopetrosis10.0F5, SERPINC1
48factor v deficiency10.0F5, F8
49sex cord-gonadal stromal tumor10.0F5, SERPINC1
50dissociative disorder10.0F5, SERPINC1

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



Diseases related to sneddon syndrome

Symptoms for Sneddon Syndrome

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Symptoms by clinical synopsis from OMIM:

182410

Clinical features from OMIM:

182410

Symptoms:

 51 (show all 24)
  • dizziness
  • cutis marmorata/marbled skin/livedo
  • vascular anomalies of skin/mucosae
  • arterial stenosis/occlusion
  • facial pain/cephalalgia/migraine
  • transient cerebral ischemia/stroke
  • troubles of memory/amnesia/hypermnesia
  • psychic/behavioural troubles
  • visual loss/blindness/amblyopia
  • transient amaurosis/acute visual trouble
  • chronic arterial hypertension
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • elocution disorders/dysarthria/dysphonia
  • psychic/psychomotor regression/dementia/intellectual decline
  • muscle weakness/flaccidity
  • renal disease/nephropathy
  • tremor
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • autoimmunity/autoimmune reaction/autoantibodies
  • intracranial/cerebral/meningeal hemorrhage
  • autosomal dominant inheritance

HPO human phenotypes related to Sneddon Syndrome:

(show all 35)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 cutis marmorata hallmark (90%) HP:0000965
3 migraine hallmark (90%) HP:0002076
4 vertigo hallmark (90%) HP:0002321
5 memory impairment hallmark (90%) HP:0002354
6 cerebral ischemia hallmark (90%) HP:0002637
7 visual impairment typical (50%) HP:0000505
8 hypertension typical (50%) HP:0000822
9 acrocyanosis typical (50%) HP:0001063
10 muscle weakness typical (50%) HP:0001324
11 neurological speech impairment typical (50%) HP:0002167
12 developmental regression typical (50%) HP:0002376
13 hemiplegia/hemiparesis typical (50%) HP:0004374
14 amaurosis fugax typical (50%) HP:0100576
15 nephropathy occasional (7.5%) HP:0000112
16 seizures occasional (7.5%) HP:0001250
17 tremor occasional (7.5%) HP:0001337
18 chorea occasional (7.5%) HP:0002072
19 neurological speech impairment occasional (7.5%) HP:0002167
20 intracranial hemorrhage occasional (7.5%) HP:0002170
21 autoimmunity occasional (7.5%) HP:0002960
22 autosomal dominant inheritance HP:0000006
23 hypertension HP:0000822
24 cutis marmorata HP:0000965
25 seizures HP:0001250
26 dysarthria HP:0001260
27 mental deterioration HP:0001268
28 stroke HP:0001297
29 tremor HP:0001337
30 hemiplegia HP:0002301
31 headache HP:0002315
32 antiphospholipid antibody positivity HP:0003613
33 progressive HP:0003676
34 sporadic HP:0003745
35 facial palsy HP:0010628

Drugs & Therapeutics for Sneddon Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin DiseasesRecruitingNCT01952275

Search NIH Clinical Center for Sneddon Syndrome


Cochrane evidence based reviews: Sneddon Syndrome

Genetic Tests for Sneddon Syndrome

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Genetic tests related to Sneddon Syndrome:

id Genetic test Affiliating Genes
1 Polyarteritis Nodosa with Childhood-Onset22 CECR1

Anatomical Context for Sneddon Syndrome

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MalaCards organs/tissues related to Sneddon Syndrome:

33
Skin, Heart, Brain, Bone, Smooth muscle, Neutrophil

Animal Models for Sneddon Syndrome or affiliated genes

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Publications for Sneddon Syndrome

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Articles related to Sneddon Syndrome:

(show all 44)
idTitleAuthorsYear
1
Strokes in Sneddon syndrome without antiphospholipid antibodies. (25628239)
2015
2
Sneddon syndrome - imaging findings. (26486491)
2015
3
Cardiac valve degeneration in a patient with Sneddon syndrome. (25479820)
2014
4
Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis. (24513089)
2014
5
Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case. (25341280)
2014
6
Sneddon Syndrome Presenting With Unilateral Third Cranial Nerve Palsy. (24051423)
2013
7
A suicide attempt in a context of bipolar symptoms leading to a diagnosis of Sneddon syndrome. (24026725)
2013
8
Sneddon syndrome associated with Protein S deficiency. (22565458)
2012
9
Transient retinal venous and arterial occlusive events in a case of sneddon syndrome. (25389744)
2012
10
Detection of lupus anticoagulant and successful anticoagulation in familial Sneddon syndrome. (20237126)
2010
11
Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. (20849802)
2010
12
Improvement of neurological symptoms and memory and emotional status in a case of seronegative Sneddon syndrome with cyclophosphamide. (20444540)
2010
13
The Sneddon syndrome. (18541809)
2008
14
Perioperative management of Sneddon syndrome during thyroidectomy. (18929289)
2008
15
Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa. (18474464)
2008
16
Central retinal vein occlusion as a possible presenting manifestation of Sneddon syndrome. (17895826)
2007
17
Diffuse retinal arterial occlusion, neovascularization, and vitreous hemorrhage as the presenting sign of sneddon syndrome: a 7.5-year angiographic follow-up. (25390485)
2007
18
Mitral valve replacement in a patient with Sneddon syndrome. (16202906)
2005
19
Factor V Leiden mutation in Sneddon syndrome. (12765305)
2003
20
Sneddon syndrome revealing dysfibrinogenemia. (12839611)
2003
21
The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. (12640088)
2003
22
Clotting factor VIII in Sneddon syndrome]. (14598591)
2003
23
Therapy of Sneddon syndrome. (12373028)
2002
24
Sneddon syndrome with multiple cerebral infarctions 12 years after the onset of livedo vasculitis: a possible involvement of platelet activation. (11603394)
2001
25
The mystery of Sneddon syndrome: relationship with antiphospholipid syndrome and systemic lupus erythematosus. (10968900)
2000
26
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. (11042423)
2000
27
Sneddon syndrome and dementia. (10593361)
1999
28
Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. (10424203)
1999
29
Antiphospholipid antibodies in a female patient with the Sneddon syndrome]. (9769746)
1998
30
Atrial myxoma syndrome mimicking Ehrmann-Sneddon syndrome. (9529569)
1997
31
The natural course of cerebral lesions in Sneddon syndrome. (9006414)
1997
32
Familial Binswanger-type encephalopathy with Sneddon syndrome]. (8752690)
1996
33
Sneddon syndrome. (7640198)
1995
34
Cerebral blood flow in Sneddon syndrome. (8113897)
1994
35
General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome). (1947326)
1991
36
Sneddon syndrome: cerebral perfusion studies by Tc99m HM-PAO and SPECT. (2013522)
1991
37
Sneddon syndrome presenting with hemicranic attacks: a case report. (1815538)
1991
38
Sneddon syndrome: a diagnosis you do not want to miss. (2121654)
1990
39
Cutaneous thrombosis, cerebrovascular thrombosis, and lupus anticoagulant--the Sneddon syndrome. Report of 10 cases. (2109736)
1990
40
Sneddon syndrome: CT, arteriography, and MR imaging. (2910928)
1989
41
Sneddon syndrome: another mendelian etiology of stroke. (3239961)
1988
42
Simultaneous bilateral central retinal arterial occlusion in a patient with Sneddon syndrome: case history. (3826753)
1987
43
Generalized racemose livedo with cerebrovascular lesions (Sneddon syndrome): an occlusive arteriolopathy due to proliferation and migration of medial smooth muscle cells. (4005168)
1985
44
Recurrent transient global amnesia in a case with cerebrovascular lesions and livedo reticularis (Sneddon Syndrome). (92541)
1979

Variations for Sneddon Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1CECR1p.Val119AlaVAR_072562
2CECR1p.Gly142SerVAR_072563

Clinvar genetic disease variations for Sneddon Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CECR1NM_177405.2(CECR1): c.355A> G (p.Thr119Ala)single nucleotide variantPathogenicrs775440641GRCh37Chr 22, 17669232: 17669232
2CECR1NM_177405.2(CECR1): c.424G> A (p.Gly142Ser)single nucleotide variantPathogenicrs770689762GRCh38Chr 22, 17182696: 17182696

Expression for genes affiliated with Sneddon Syndrome

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Search GEO for disease gene expression data for Sneddon Syndrome.

Pathways for genes affiliated with Sneddon Syndrome

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GO Terms for genes affiliated with Sneddon Syndrome

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Cellular components related to Sneddon Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.7F5, F8
2ER to Golgi transport vesicleGO:00301349.6F5, F8
3endoplasmic reticulum-Golgi intermediate compartment membraneGO:00331169.6F5, F8
4extracellular regionGO:00055767.8CECR1, F5, F8, SERPINC1
5extracellular spaceGO:00056157.5APOH, CECR1, F5, F8, SERPINC1

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:000759710.0APOH, F8
2platelet degranulationGO:00025769.6F5, F8
3ER to Golgi vesicle-mediated transportGO:00068889.5F5, F8
4COPII vesicle coatingGO:00482089.5F5, F8
5cellular protein metabolic processGO:00442678.9CECR1, F5, F8
6blood coagulationGO:00075968.0APOH, F5, F8, SERPINC1

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.1F5, F8
2heparin bindingGO:00082018.6APOH, CECR1, SERPINC1

Sources for Sneddon Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet