MCID: SND002
MIFTS: 43

Sneddon Syndrome malady

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

Aliases & Classifications for Sneddon Syndrome

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Sources:
49OMIM, 10Disease Ontology, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Sneddon Syndrome:

Name: Sneddon Syndrome 49 10 45 47 12 51 67 36 65
Livedo Reticularis and Cerebrovascular Accidents 45 51 67
Idiopathic Livedo Reticularis with Systemic Involvement 10 24
Livedo Racemosa and Cerebrovascular Accidents 45 51
 
Ehrmann-Sneddon Syndrome 45 51
Cerebro-Vascular Lesions and Livedo Reticularis 45
Sneddon's Syndrome 45
Sndds 67

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

HPO:

61
sneddon syndrome:
Inheritance: sporadic, autosomal dominant inheritance
Onset and clinical course: progressive


Classifications:



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
UMLS65 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 adenosine deaminase 2 deficiency and artery disease, and has symptoms including cerebral ischemia, memory impairment and vertigo. 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, brain and heart.

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

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 116)
idRelated DiseaseScoreTop Affiliating Genes
1adenosine deaminase 2 deficiency11.8
2artery disease10.5
3peripheral artery disease10.5
4endotheliitis10.5
5partial circumpapillary choroid dystrophy10.2APOH, CECR1
6sarcomatous intrahepatic cholangiocarcinoma10.1APOH, F8
7thumb absent short stature immune deficiency10.1APOH, F8
8fowler's syndrome10.1F8, SERPINC1
9atopy10.1
10asthma10.1
11breast cancer10.1
12renal cell carcinoma10.1
13multiple myeloma10.1
14congenital disorder of glycosylation, type ib10.1
15congenital adrenal hyperplasia10.1
16myeloma10.1
17hydronephrosis10.1
18dental fluorosis10.1
19prostatitis10.1
20olivopontocerebellar atrophy10.1
21glomus tumor10.1
22vernal conjunctivitis10.1
23dyskeratosis congenita10.1
24gliosarcoma10.1
25ischemia10.1
26pleural empyema10.1
27pyoderma10.1
28conjunctivitis10.1
29polycythemia10.1
30herpes zoster10.1
31pyoderma gangrenosum10.1
32psoriasis10.1
33intracranial hypertension10.1
34carcinoid syndrome10.1
35elastosis perforans serpiginosa10.1
36encephalocele10.1
37splenomegaly10.1
38truncus arteriosus10.1
39renal dysplasia10.1
40glycerol kinase deficiency, adult form10.0F8, SERPINC1
41intraocular lymphoma10.0APOH, SERPINC1
42mayer-rokitansky-kuster-hauser syndrome10.0APOH, F5
43acquired hypoprothrombinemia10.0F5, F8
44acquired hemophilia a10.0F5, F8
45tall stature-scoliosis-macrodactyly of the great toes syndrome10.0APOH, F5
46liver failure acute infantile10.0APOH, F5
47sugarman brachydactyly10.0APOH, F5
48factor v and factor viii, combined deficiency of10.0F5, F8
49catatrichy10.0APOH, F5
50pregnancy loss, recurrent 110.0APOH, F5

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

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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Anatomical Context for Sneddon Syndrome

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MalaCards organs/tissues related to Sneddon Syndrome:

33
Skin, Brain, Heart, Neutrophil, Bone, Prostate, B cells

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
In vitro detection of NEMO-ubiquitin binding using DELFIA and microscale thermophoresis assays. (25736757)
2015
2
Rubella and congenital rubella syndrome control and elimination - global progress, 2000-2014. (26410894)
2015
3
Case of intraperitoneal sepsis secondary to rupture of the appendix on the background of pseudomyxoma peritonei. (25685336)
2015
4
p40 (I9Np63) expression in breast disease and its correlation with p63 immunohistochemistry. (24696720)
2014
5
Aggressive rhabdoid meningioma with osseous, papillary and chordoma-like appearance. (24702318)
2014
6
The incidence, risk factors, and prognosis of recurrent venous thromboembolism (VTE) in patients with advanced solid cancers receiving anticoagulation therapy after the diagnosis of index VTE. (23399441)
2013
7
Prevalence of ischemia on myocardial perfusion scintigraphy of pre-and postmenopausal women. (24217403)
2013
8
Rare systemic mycoses in cats: blastomycosis, histoplasmosis and coccidioidomycosis: ABCD guidelines on prevention and management. (23813828)
2013
9
Orbital sarcoidosis presenting as diffuse swelling of the lower eyelid. (23372381)
2013
10
Screening for chronic cerebrospinal venous insufficiency (CCSVI) using ultrasound--recommendations for a protocol. (22233619)
2011
11
Pulmonary nocardiosis masquerading as severe community-acquired pneumonia. (20805721)
2010
12
Refining the prostate cancer genetic association within the JAZF1 gene on chromosome 7p15.2. (20406958)
2010
13
Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype. (19912043)
2009
14
Sulfated tyrosines 27 and 29 in the N-terminus of human CXCR3 participate in binding native IP-10. (19151743)
2009
15
Extracorporeal membrane oxygenation for the treatment of neonatal respiratory failure. (19713207)
2009
16
Measurements of EGFR expression on circulating tumor cells are reproducible over time in metastatic breast cancer patients. (19102715)
2009
17
Choline availability and acetylcholine synthesis in the hippocampus of acetylcholinesterase-deficient mice. (18023504)
2008
18
Phosphorylation of MDMX mediated by Akt leads to stabilization and induces 14-3-3 binding. (18356162)
2008
19
The comparative role of cattle, goats and pigs in the epidemiology of livestock trypanosomiasis on the plateau of eastern Zambia. (17493757)
2007
20
S100A1: a novel inotropic regulator of cardiac performance. Transition from molecular physiology to pathophysiological relevance. (17459908)
2007
21
Immune reconstitution inflammatory syndrome and acute granulomatous interstitial nephritis. (17301579)
2007
22
A case of primary ovarian carcinosarcoma and vulvar carcinoma with widespread lymphadenopathy. (16846899)
2006
23
Update on acute coronary syndromes and ST-elevation myocardial infarction. (16175024)
2005
24
Markers of platelet activation in plasma of patients suffering from persistent allergic rhinitis with or without asthma symptoms. (16297143)
2005
25
Vector-based RNA interference against vascular endothelial growth factor-A significantly limits vascularization and growth of prostate cancer in vivo. (15956982)
2005
26
Chemokine-binding specificity of soluble chemokine-receptor analogues: identification of interacting elements by chimera complementation. (15544331)
2004
27
Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12). (15555571)
2004
28
Egr-1 modulation of synapsin I expression: permissive effect of forskolin via cAMP. (15381251)
2004
29
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. (12081993)
2002
30
Small Intestine Cancer Treatment (PDQAr): Health Professional Version (26389423)
2002
31
Auditory abnormalities associated with unilateral renal agenesis. (11518587)
2001
32
T-large granular lymphocyte leukemia accompanied by an increase of natural killer cells (CD3-) and associated with ulcerative colitis and autoimmune hepatitis. (11342376)
2001
33
Magnetic resonance diagnosis of congenital hypopituitarism in children with optic nerve hypoplasia. (11641635)
2001
34
Evaluation of brain metabolism in steno-occlusive carotid artery disease by proton MR spectroscopy: a correlative study with oxygen metabolism by PET. (10945527)
2000
35
Effects of chronic oestrogen replacement on stress-induced activation of hypothalamic-pituitary-adrenal axis control pathways. (10929091)
2000
36
Insulin-like growth factor binding protein-6: the "forgotten" binding protein? (10226806)
1999
37
Alteration of fetal oxygenation and responses to acute hypoxemia by increased myometrial contracture frequency produced by pulse administration of oxytocin to the pregnant ewe from 96 to 131 days' gestation. (10329878)
1999
38
Determining the maternal and fetal cellular immunologic contributions in preterm deliveries with clinical or subclinical chorioamnionitis. (18476151)
1997
39
Protective protein in the bovine lysosomal beta-galactosidase complex. (9357958)
1997
40
All products of proglucagon are elevated in plasma from uremic patients. (1730817)
1992
41
The complete nucleotide sequences of the heavy chain variable regions of six monospecific rheumatoid factors derived from Epstein-Barr virus-transformed B cells isolated from the synovial tissue of patients with rheumatoid arthritis. Further evidence that some autoantibodies are unmutated copies of germ line genes. (2170450)
1990
42
Amplification and expression of the c-erb B-2/neu proto-oncogene in human bladder cancer. (1978777)
1990
43
Iatrogenic Lutembacher's syndrome revisited. (2317919)
1990
44
B cell lines as models for inherited phagocytic diseases: abnormal superoxide generation in chronic granulomatous disease and giant granules in Chediak-Higashi syndrome. (6092465)
1984

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.

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
1endoplasmic reticulum lumenGO:00057889.1F5, F8
2endoplasmic reticulum-Golgi intermediate compartment membraneGO:00331168.8F5, F8

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

idNameGO IDScoreTop Affiliating Genes
1COPII vesicle coatingGO:00482089.1F5, F8
2protein N-linked glycosylation via asparagineGO:00182799.1F5, F8

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