MCID: SSC001
MIFTS: 25

Susac Syndrome malady

Categories: Rare diseases, Neuronal diseases, Ear diseases, Cardiovascular diseases

Aliases & Classifications for Susac Syndrome

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Susac Syndrome:

Name: Susac Syndrome 45 51 65
Retinocochleocerebral Vasculopathy 45 51
Retinopathy-Encephalopathy-Deafness Associated with Microangiopathy 51
Small Infarctions of Cochlear, Retinal and Encephalic Tissue 51
 
Sicret Syndrome 45
Sicret Syndrome 51
Red-M 51

Characteristics:

Orphanet epidemiological data:

51
susac syndrome:
Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 838
MESH via Orphanet37 D055955
UMLS via Orphanet66 C2717757
ICD10 via Orphanet28 I67.7
UMLS65 C2717757

Summaries for Susac Syndrome

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NIH Rare Diseases:45 Susac syndrome is an autoimmune condition that affects very fine blood vessels in the brain, retina, and cochlea (inner ear). it is characterized by three main symptoms: encephalopathy (which can cause headache, mild memory loss, personality changes, and confusion); sensorineural hearing loss; and vision loss. most people do not have all the symptoms of susac syndrome at the beginning of their illness but develop symptoms over the course of several years. susac syndrome affects women more than men and the age of onset is usually between 20 and 40 years. the cause of this condition is still unknown. corticosteroids, antiplatelets, anticoagulation, and cyclophosphamide have been used to treat susac syndrome. however, the extent to which individuals respond to treatment is not clear. improvement may occur spontaneously although in some cases there may be residual dysfunction. last updated: 7/21/2014

MalaCards based summary: Susac Syndrome, also known as retinocochleocerebral vasculopathy, is related to thyroiditis and leukemia. Affiliated tissues include brain, retina and lung.

Related Diseases for Susac Syndrome

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



Diseases related to susac syndrome

Symptoms for Susac Syndrome

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Drugs & Therapeutics for Susac Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Epidemiological, Clinical and Etiological Features of SUSAC's SyndromeRecruitingNCT01481662
2Investigation of Biomarkers in Susac SyndromeRecruitingNCT01273792
3Establishment of Biomarkers for Fabry DiseaseRecruitingNCT01165697

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Genetic Tests for Susac Syndrome

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Anatomical Context for Susac Syndrome

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MalaCards organs/tissues related to Susac Syndrome:

33
Brain, Retina, Lung, Heart, Bone, Prefrontal cortex, Cortex

Animal Models for Susac Syndrome or affiliated genes

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Publications for Susac Syndrome

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Articles related to Susac Syndrome:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
Clinical outcomes of implant therapy in ectodermal dysplasia patients: a systematic review. (27052318)
2016
2
Myeloma Today: Disease Definitions and Treatment Advances. (26565896)
2015
3
Successful treatment with sirolimus of a patient with Blue Rubber Bleb Nevus syndrome. (26456887)
2015
4
Association of clinicopathological characteristics with secondary neoplastic lymphoproliferative disorders in patients with lymphomatoid papulosis. (25242096)
2014
5
Peritonsillar Involvement in Pyoderma Gangrenosum associated with Ulcerative Colitis. (25349583)
2014
6
Primary multicentric angiosarcoma of bone: true entity or metastases from an unknown primary? Value of comparative genomic hybridization on paraffin embedded tissues. (24179665)
2013
7
Matrix metalloproteinases and educational attainment in refractive error: evidence of gene-environment interactions in the Age-Related Eye Disease Study. (23098370)
2013
8
Pentachrome vitiligo in a segmental pattern. (23458395)
2013
9
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. (22723944)
2012
10
Mycobacterium marinum infections in humans and tracing of its possible environmental sources. (22182182)
2012
11
Loop-mediated isothermal amplification for detection of Staphylococcus aureus in dairy cow suffering from mastitis. (23251078)
2012
12
Association between circulating levels of IGF-1 and IGFBP-3 and lung cancer risk: a meta-analysis. (23185474)
2012
13
Multimodal microtubule binding by the Ndc80 kinetochore complex. (23085714)
2012
14
Protein expression and gene mutation status of KIT and PDGFRA in renal cell carcinoma. (22237707)
2012
15
Cataract-associated mutant E107A of human gammaD-crystallin shows increased attraction to alpha-crystallin and enhanced light scattering. (21173272)
2011
16
Adherens junction protein nectin-4 is the epithelial receptor for measles virus. (22048310)
2011
17
Meta-analysis of association between optineurin gene and primary open-angle glaucoma. (20671613)
2010
18
A carbohydrate-restrictive strategy is safer and as efficient as intensive insulin therapy in critically ill patients. (19327317)
2010
19
Successful elbow contracture release secondary to melorheostosis. A case report. (18451404)
2008
20
Exogenous antizyme 1 gene transfection inhibits proliferation and promotes apoptosis of human neuroblastoma SH-SY5Y cells in vitro]. (18024296)
2007
21
The effect of adenosine receptor agonists on cytokine release by human mononuclear cells depends on the specific Toll-like receptor subtype used for stimulation. (16963274)
2006
22
Reduction of dopamine-related transcription factors Nurr1 and NGFI-B in the prefrontal cortex in schizophrenia and bipolar disorders. (16631355)
2006
23
Homeobox Msx1 interacts with p53 tumor suppressor and inhibits tumor growth by inducing apoptosis. (15705871)
2005
24
Age as a limiting factor for successful sperm retrieval in patients with nonmosaic Klinefelter's syndrome. (16359961)
2005
25
The Leu554Phe polymorphism in the E-selectin gene is associated with blood pressure in overweight people. (15076188)
2004
26
Elevated cardiac troponin T in hemodialysis patients receiving more intravenous iron sucrose. (15600258)
2004
27
Coronary heart disease in diabetes mellitus: risk factors and epidemiology. (15641298)
2004
28
The role of nuclear factor-kappa B in interleukin-8 expression by human adenoidal fibroblasts. (12897563)
2003
29
Association of the Golgi UDP-galactose transporter with UDP-galactose:ceramide galactosyltransferase allows UDP-galactose import in the endoplasmic reticulum. (12925779)
2003
30
Determinants of BRAF mutations in primary melanomas. (14679157)
2003
31
The impact of factitious disorder on the physician-patient relationship. An epistemological model. (12517033)
2002
32
ErbB2 oncogene expression supports the acute pancreatitis-chronic pancreatitis sequence. (12404064)
2002
33
Serum thrombopoietin levels in patients with chronic hepatitis and liver cirrhosis, and its relationship with circulating thrombocyte counts. (12397754)
2002
34
Ryanodine receptors, FKBP12, and heart failure. (11897558)
2002
35
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. (11478532)
2001
36
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus- dystonia syndrome. (11528394)
2001
37
A refined structure of human aquaporin-1. (11532455)
2001
38
Activation of caspase-3 in renal cell carcinoma cells by anthracyclines or 5-fluorouracil. (11408917)
2001
39
Primary mucoepidermoid carcinoma and sclerosing mucoepidermoid carcinoma with eosinophilia of the thyroid gland: a report of nine cases. (10912941)
2000
40
Structure-function analysis of SUV39H1 reveals a dominant role in heterochromatin organization, chromosome segregation, and mitotic progression. (10779362)
2000
41
Human Trop-2 is a tumor-associated calcium signal transducer. (9610724)
1998
42
Activation of caspases triggered by cytochrome c in vitro. (9598997)
1998
43
Inflammation, immunity and surgery]. (7552389)
1995
44
Galactocerebrosidase from human urine: purification and partial characterization. (8399327)
1993
45
Possible induction of systemic lupus erythematosus by interferon-alpha treatment in a patient with a malignant carcinoid tumour. (1690258)
1990
46
Cerebellar hemangioblastoma during pregnancy. (2918984)
1989
47
Parental age and unbalanced Robertsonian translocations associated with Down syndrome and Patau syndrome: comparison with maternal and paternal age effects for 47, +21 and 47, +13. (6238567)
1984
48
Acrodermatitis chronica atrophicans. (511421)
1979
49
Genetic control of susceptibility to autologous immune complex glomerulonephritis in inbred rat strains. (152175)
1978
50
Alcoholic cardiomyopathy. (4568938)
1972

Variations for Susac Syndrome

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Expression for genes affiliated with Susac Syndrome

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Search GEO for disease gene expression data for Susac Syndrome.

Pathways for genes affiliated with Susac Syndrome

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GO Terms for genes affiliated with Susac Syndrome

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Sources for Susac 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