MCID: SSC001
MIFTS: 29

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 retinitis and retinal artery occlusion, and has symptoms including neuromuscular manifestations, neurobehavioral manifestations and vasculitic rash. Affiliated tissues include retina, brain and eye.

Related Diseases for Susac Syndrome

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

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis10.4
2retinal artery occlusion10.3
3central retinal artery occlusion10.1
4branch retinal artery occlusion10.0
5encephalopathy10.0
6bipolar disorder9.8
7hepatitis9.8
8multifocal motor neuropathy9.8
9sensorineural hearing loss9.8
10retinal vasculitis9.8
11cauda equina syndrome9.8
12hepatitis c9.8
13cervicitis9.8
14vasculitis9.8
15neuropathy9.8
16central serous chorioretinopathy9.8
17endotheliitis9.8

Graphical network of diseases related to Susac Syndrome:



Diseases related to susac syndrome

Symptoms for Susac Syndrome

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UMLS symptoms related to Susac Syndrome:


neuromuscular manifestations, neurobehavioral manifestations, vasculitic rash, cupulolithiasis, eye pain, photophobia, vertigo, seizures, reflex, abnormal, paresis, pain, meningism, eye manifestations, earache

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

Search NIH Clinical Center for Susac Syndrome

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
Retina, Brain, Eye, Cortex, Lung, Endothelial, Prostate

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 97)
idTitleAuthorsYear
1
Teen with Encephalopathy: Early Recognition of and Intervention for Susac Syndrome. (26991403)
2016
2
Potential benefits of early aggressive immunotherapy in Susac syndrome. (26786477)
2016
3
Treatment of Susac Syndrome. (26715396)
2016
4
Do not forget susac syndrome in patients with unexplained acute confusion. (25680663)
2015
5
SUSAC SYNDROME. (26352322)
2015
6
Retinal pathology in Susac syndrome detected by spectral-domain optical coherence tomography. (26203089)
2015
7
A case of susac syndrome. (25553231)
2015
8
Central Serous Chorioretinopathy in Susac Syndrome. (25786202)
2015
9
Update on Susac syndrome: new insights in brain and retinal imaging and treatment options. (24662104)
2014
10
Susac syndrome: diverse clinical findings and treatment. (25295909)
2014
11
Recurrence of Susac Syndrome following 23 Years of Remission. (24987361)
2014
12
What is Susac syndrome? - A brief review of articles. (25632332)
2014
13
Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report. (24232952)
2013
14
Susac syndrome: an Italian case. (23828373)
2013
15
Characteristics of Susac syndrome: a review of all reported cases. (23628737)
2013
16
Susac Syndrome Treated with Subcutaneous Immunoglobulin. (24335148)
2013
17
A case of Susac syndrome. (24082778)
2013
18
Progression of retinal artery occlusion from one eye to the other seems to be a characteristic finding in Susac syndrome. (24510092)
2013
19
Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report. (23929083)
2013
20
A case of Susac syndrome with cervical spinal cord involvement on MRI. (24365248)
2013
21
Susac syndrome: clinical characteristics and treatment in 29 new cases. (22221557)
2012
22
A brief review of Susac syndrome. (22640902)
2012
23
Exacerbation of Susac syndrome retinopathy by interferon Beta-1a. (22801853)
2012
24
Susac syndrome and pregnancy: disease management. (21325959)
2011
25
Recurrent bilateral branch retinal artery occlusion with hearing loss and encephalopathy: the first case report of Susac syndrome in Korea. (22065912)
2011
26
Review of Susac syndrome. (21897238)
2011
27
Gass plaques and fluorescein leakage in Susac Syndrome. (20880549)
2010
28
CT and MR imaging of Susac syndrome in a young male presenting with acute disorientation. (20189079)
2010
29
Susac syndrome as an example of a rare vasculopathy. (19341183)
2009
30
Case 142: Susac syndrome. (19188329)
2009
31
Is Susac syndrome (microangiopathy of the inner ear, retina, and central nervous system) an underdiagnosed cause of sensorineural hearing loss? (18633920)
2008
32
Diffusion tensor imaging demonstrates fiber impairment in Susac syndrome. (17959768)
2008
33
Susac syndrome and vestibular-evoked myogenic potentials. (18359373)
2008
34
Susac syndrome in a patient with hepatitis C. (17414876)
2007
35
Long-term outcome in Susac syndrome. (17435589)
2007
36
Re: Susac syndrome in four male patients. (18040266)
2007
37
Susac syndrome in a young child. (17476496)
2007
38
Susac syndrome in four male patients. (17151493)
2006
39
Susac syndrome with frontal intermittent rhythmic delta activity (FIRDA). (17168166)
2006
40
Treatment of Susac syndrome with gamma globulin and corticosteroids. (17052732)
2006
41
Susac syndrome: retinocochleocerebral vasculopathy. (15185430)
2004
42
Susac syndrome: serial diffusion-weighted MR imaging. (15607101)
2004
43
Susac syndrome. (12439681)
2002
44
Susac syndrome and multiple sclerosis. (11296064)
2001
45
Susac syndrome: a vasospastic disorder? (11456021)
2001
46
A case of Susac syndrome. (11057732)
2000
47
Susac syndrome. (10844072)
2000
48
Microangiopathy of the inner ear, retina, and brain (Susac syndrome): report of a case. (10628717)
2000
49
Susac syndrome: microangiopathy of the retina, cochlea and brain. (11097286)
2000
50
Microangiopathy of the brain, retina, and cochlea (Susac syndrome). A report of five cases and a review of the literature. (9627654)
1998

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