RED-M
MCID: SSC001
MIFTS: 27

Susac Syndrome (RED-M) malady

Rare diseases, Neuronal diseases, Ear diseases, Cardiovascular diseases categories

Summaries for Susac Syndrome

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Sources:
44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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: Susac Syndrome, also known as retinocochleocerebral vasculopathy, is related to retinitis and retinal artery occlusion. Affiliated tissues include retina, brain and spinal cord.

Aliases & Classifications for Susac Syndrome

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Sources:
44NIH Rare Diseases, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
susac syndrome:
Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

susac syndrome 44 50 63
retinocochleocerebral vasculopathy 44 50
retinopathy-encephalopathy-deafness associated with microangiopathy 50
small infarctions of cochlear, retinal and encephalic tissue 50
sicret syndrome 44
sicret syndrome 50
red-m 50


External Ids:

MESH via Orphanet37 D055955
ICD10 via Orphanet27 I67.7
SNOMED-CT via Orphanet60 197679002
UMLS via Orphanet64 C2717757

Related Diseases for Susac Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Susac Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis10.5
2retinal artery occlusion10.4
3branch retinal artery occlusion10.2
4central retinal artery occlusion10.2
5multiple sclerosis10.2
6hepatitis c10.1
7cauda equina syndrome10.1
8retinal vasculitis10.1
9sensorineural hearing loss10.1
10bipolar disorder10.1
11cervicitis10.1
12hepatitis10.1
13neuropathy10.1
14vasculitis10.1
15multifocal motor neuropathy10.1
16endotheliitis10.1

Graphical network of 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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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

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Anatomical Context for Susac Syndrome

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Sources:
34MalaCards
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MalaCards organs/tissues related to Susac Syndrome:

34
Retina, Brain, Spinal cord, Endothelial

Animal Models for Susac Syndrome or affiliated genes

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Publications for Susac Syndrome

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Sources:
53PubMed
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Articles related to Susac Syndrome:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report. (24232952)
2013
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
A case of Susac syndrome. (24082778)
2013
6
Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report. (23929083)
2013
7
A case of Susac syndrome with cervical spinal cord involvement on MRI. (24365248)
2013
8
Susac syndrome in a patient with human immunodeficiency virus infection. (23690260)
2013
9
Reply: Fibrin-like material in the retinal arterioles and fluorescein angiography findings in Susac syndrome. (24232953)
2013
10
Susac syndrome. A differential diagnosis for demyelination. (23291802)
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
Susac syndrome and pregnancy: disease management. (21325959)
2011
15
Recurrent bilateral branch retinal artery occlusion with hearing loss and encephalopathy: the first case report of Susac syndrome in Korea. (22065912)
2011
16
Review of Susac syndrome. (21897238)
2011
17
Susac syndrome: outcome of unilateral cochlear implantation. (21481296)
2011
18
Microangiopathy of the inner ear, deafness, and cochlear implantation in a patient with Susac syndrome. (21736516)
2011
19
Susac syndrome: an organ-specific autoimmune endotheliopathy syndrome associated with anti-endothelial cell antibodies. (22095376)
2011
20
Gass plaques and fluorescein leakage in Susac Syndrome. (20880549)
2010
21
CT and MR imaging of Susac syndrome in a young male presenting with acute disorientation. (20189079)
2010
22
Susac syndrome. (20686320)
2010
23
Severe retention hyperkeratosis occurring with Susac syndrome. (21062602)
2010
24
Susac syndrome as an example of a rare vasculopathy. (19341183)
2009
25
Case 142: Susac syndrome. (19188329)
2009
26
Is Susac syndrome (microangiopathy of the inner ear, retina, and central nervous system) an underdiagnosed cause of sensorineural hearing loss? (18633920)
2008
27
Diffusion tensor imaging demonstrates fiber impairment in Susac syndrome. (17959768)
2008
28
Susac syndrome and vestibular-evoked myogenic potentials. (18359373)
2008
29
Fluorescein and indocyanine green angiographies in Susac syndrome. (18779724)
2008
30
Susac syndrome in a patient with hepatitis C. (17414876)
2007
31
Long-term outcome in Susac syndrome. (17435589)
2007
32
Re: Susac syndrome in four male patients. (18040266)
2007
33
Susac syndrome in a young child. (17476496)
2007
34
Susac syndrome in four male patients. (17151493)
2006
35
Susac syndrome with frontal intermittent rhythmic delta activity (FIRDA). (17168166)
2006
36
Treatment of Susac syndrome with gamma globulin and corticosteroids. (17052732)
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
Susac syndrome with transient inverted vision. (15304609)
2004
41
Susac syndrome. (15241223)
2004
42
Retinal arterial wall plaques in Susac syndrome. (12654364)
2003
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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Sources:
16Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Susac Syndrome

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GO Terms for genes affiliated with Susac Syndrome

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Products for genes affiliated with Susac Syndrome

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  • Antibodies
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  • Antibodies

Sources for Susac Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet