RED-M
MCID: SSC001
MIFTS: 23

Susac Syndrome (RED-M) malady

Neuronal, Ear, Cardiovascular categories

Summaries for Susac Syndrome

Sources:
43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Susac syndrome is an autoimmune condition that affects very fine blood vessels in the brain, retina, and the cochlea (inner ear) .  it is characterized by three main symptoms: encephalopathy (which can include headache, mild memory losses, 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 frequently 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: 7/7/2011

MalaCards: Susac Syndrome, also known as retinocochleocerebral vasculopathy, is related to central retinal artery occlusion and cauda equina syndrome. An important gene associated with Susac Syndrome is F5 (coagulation factor V (proaccelerin, labile factor)). Affiliated tissues include spinal cord, brain and retina.

Aliases & Classifications for Susac Syndrome

Sources:
43NIH Rare Diseases, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Ear, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
susac syndrome:
Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

susac syndrome 43 49 61
retinocochleocerebral vasculopathy 43 49
retinopathy, encephalopathy, deafness associated microangiopathy 49
small infarctions of cochlear, retinal and encephalic tissue 49
sicret syndrome 43
sicret syndrome 49
red-m 49


External Ids:

MESH via Orphanet36 D055955
ICD10 via Orphanet26 I67.7
SNOMED-CT via Orphanet58 197679002
UMLS via Orphanet62 C2717757

Related Diseases for Susac Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Susac Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1central retinal artery occlusion10.2
2cauda equina syndrome10.0
3retinal vasculitis10.0
4bipolar disorder10.0
5vasculitis10.0
6multifocal motor neuropathy10.0

Graphical network of diseases related to Susac Syndrome:



Diseases related to susac syndrome

Clinical Features for Susac Syndrome

Drugs & Therapeutics for Susac Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Susac Syndrome

Drug clinical trials:

Search ClinicalTrials for Susac Syndrome

Search NIH Clinical Center for Susac Syndrome

Search CenterWatch for Susac Syndrome

Genetic Tests for Susac Syndrome

Anatomical Context for Susac Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Susac Syndrome:

33
Spinal cord, Brain, Retina, Endothelial

Animal Models for Susac Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Susac Syndrome

Sources:
51PubMed
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Articles related to Susac Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Diagnosis and classification of Susac syndrome. (24424186)
2014
2
Susac syndrome: an Italian case. (23828373)
2013
3
Characteristics of Susac syndrome: a review of all reported cases. (23628737)
2013
4
Susac Syndrome Treated with Subcutaneous Immunoglobulin. (24335148)
2013
5
Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report. (23929083)
2013
6
Susac syndrome in a patient with human immunodeficiency virus infection. (23690260)
2013
7
A case with neuromyelitis optica mimicking Susac's syndrome. (23053835)
2013
8
Reply: Fibrin-like material in the retinal arterioles and fluorescein angiography findings in Susac syndrome. (24232953)
2013
9
Susac syndrome. A differential diagnosis for demyelination. (23291802)
2013
10
Diffuse cauda equina enhancement in a middle aged male with Susac syndrome and symptomatic cauda equina syndrome. (23845898)
2013
11
Susac syndrome: clinical characteristics and treatment in 29 new cases. (22221557)
2012
12
A brief review of Susac syndrome. (22640902)
2012
13
Exacerbation of Susac syndrome retinopathy by interferon Beta-1a. (22801853)
2012
14
Patterns of retinal damage facilitate differential diagnosis between Susac syndrome and MS. (22701702)
2012
15
A patient with susac syndrome and bipolar disorder. (23251866)
2012
16
Lesion morphology at 7 Tesla MRI differentiates Susac syndrome from multiple sclerosis. (22711711)
2012
17
Recurrent bilateral branch retinal artery occlusion with hearing loss and encephalopathy: the first case report of Susac syndrome in Korea. (22065912)
2011
18
Review of Susac syndrome. (21897238)
2011
19
Susac syndrome: outcome of unilateral cochlear implantation. (21481296)
2011
20
Susac syndrome: an organ-specific autoimmune endotheliopathy syndrome associated with anti-endothelial cell antibodies. (22095376)
2011
21
CT and MR imaging of Susac syndrome in a young male presenting with acute disorientation. (20189079)
2010
22
Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome. (20632027)
2010
23
Susac syndrome. (20686320)
2010
24
Severe retention hyperkeratosis occurring with Susac syndrome. (21062602)
2010
25
Branch retinal artery occlusion with visual field and multifocal erg in Susac syndrome: a case report. (20740301)
2010
26
Susac syndrome as an example of a rare vasculopathy. (19341183)
2009
27
Susac syndrome--a report of cochlear implantation and review of otologic manifestations in twenty-three patients. (19108037)
2009
28
Encephalopathy, visual disturbance and hearing loss-recognizing the symptoms of Susac syndrome. (19953118)
2009
29
Retinal vasculitis in Susac syndrome: case report. (19668976)
2009
30
Susac syndrome: a case report and PET imaging findings. (19902818)
2009
31
Diffusion tensor imaging demonstrates fiber impairment in Susac syndrome. (17959768)
2008
32
Long-term outcome in Susac syndrome. (17435589)
2007
33
Re: Susac syndrome in four male patients. (18040266)
2007
34
Susac syndrome in a young child. (17476496)
2007
35
Fluorescein and indocyanine green angiographies in Susac syndrome. (18046231)
2007
36
Susac syndrome with frontal intermittent rhythmic delta activity (FIRDA). (17168166)
2006
37
Susac syndrome: retinocochleocerebral vasculopathy. (15185430)
2004
38
Susac syndrome: serial diffusion-weighted MR imaging. (15607101)
2004
39
Evolution of lesions in Susac syndrome at serial MR imaging with diffusion-weighted imaging and apparent diffusion coefficient values. (15140708)
2004
40
Microangiopathy of brain, retina, and inner ear (Susac's syndrome) in an adolescent female presenting as acute disseminated encephalomyelitis. (15231946)
2004
41
Central retinal artery occlusion as the initial ophthalmic presentation of Susac's syndrome. (15180149)
2004
42
Susac syndrome. (12439681)
2002
43
Susac syndrome and multiple sclerosis. (11296064)
2001
44
Susac syndrome: a vasospastic disorder? (11456021)
2001
45
Recurrence of Susac syndrome (retinocochleocerebral vasculopathy) after remission of 18 years. (11560310)
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
Microangiopathy of the brain, retina, and cochlea (Susac syndrome). A report of five cases and a review of the literature. (9627654)
1998
50
Susac syndrome. (9627253)
1998

Genetic Variations for Susac Syndrome

Expression for genes affiliated with Susac Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Susac Syndrome

Search GEO for disease gene expression data for Susac Syndrome.

Pathways for genes affiliated with Susac Syndrome

Compounds for genes affiliated with Susac Syndrome

GO Terms for genes affiliated with Susac Syndrome

Products for genes affiliated with Susac Syndrome

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Sources for Susac Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet