RED-M
MCID: SSC001
MIFTS: 20

Susac Syndrome (RED-M) malady

Neuronal diseases, Ear diseases, Cardiovascular diseases categories

Summaries for Susac Syndrome

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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 image syndrome and central retinal artery occlusion. An important gene associated with Susac Syndrome is F5 (coagulation factor V (proaccelerin, labile factor)). Affiliated tissues include brain and retina.

Aliases & Classifications for Susac Syndrome

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42NIH Rare Diseases, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
susac syndrome:
Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

susac syndrome 42 48 60
retinocochleocerebral vasculopathy 42 48
retinopathy, encephalopathy, deafness associated microangiopathy 48
small infarctions of cochlear, retinal and encephalic tissue 48
sicret syndrome 42
sicret syndrome 48
red-m 48


External Ids:

MESH via Orphanet35 D055955
ICD10 via Orphanet26 I67.7
SNOMED-CT via Orphanet57 197679002
UMLS via Orphanet61 C2717757

Related Diseases for Susac Syndrome

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1image syndrome10.4
2central retinal artery occlusion10.2
3multiple sclerosis10.2
4hepatitis c10.0
5cauda equina syndrome10.0
6retinal vasculitis10.0
7hepatitis a10.0
8bipolar disorder10.0
9cervicitis10.0
10hepatitis10.0
11vasculitis10.0

Graphical network of diseases related to Susac Syndrome:



Diseases related to susac syndrome

Clinical Features for Susac Syndrome

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Drugs & Therapeutics for Susac Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Susac Syndrome

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Anatomical Context for Susac Syndrome

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32MalaCards
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MalaCards organs/tissues related to Susac Syndrome:

32
Brain, Retina

Animal Models for Susac Syndrome or affiliated genes

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Publications for Susac Syndrome

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Genetic Variations for Susac Syndrome

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Expression for genes affiliated with Susac Syndrome

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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

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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
  • Proteins
  • Lysates
  • Antibodies

Sources for Susac Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet