MCID: SSC001
MIFTS: 28

Susac Syndrome malady

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

Aliases & Classifications for Susac Syndrome

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Sources:
46NIH Rare Diseases, 52Orphanet, 66UMLS, 38MESH via Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Susac Syndrome:

Name: Susac Syndrome 46 52 66
Retinocochleocerebral Vasculopathy 46 52
Retinopathy-Encephalopathy-Deafness Associated with Microangiopathy 52
Small Infarctions of Cochlear, Retinal and Encephalic Tissue 52
 
Sicret Syndrome 46
Sicret Syndrome 52
Red-M 52

Characteristics:

Orphanet epidemiological data:

52
susac syndrome:
Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet52 ORPHA838
MESH via Orphanet38 D055955
UMLS via Orphanet67 C2717757
ICD10 via Orphanet29 I67.7

Summaries for Susac Syndrome

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NIH Rare Diseases:46 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 earache, eye manifestations and meningism. 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 disorder9.9
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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Symptoms:

 52 (show all 16)
  • sensorineural hearing impairment
  • visual loss
  • confusion
  • generalized hypotonia
  • cognitive impairment
  • tinnitus
  • abnormality of eye movement
  • diplopia
  • behavioral abnormality
  • psychosis
  • apathy
  • personality changes
  • dysarthria
  • nausea and vomiting
  • gait ataxia
  • vertigo

UMLS symptoms related to Susac Syndrome:


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

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:

34
Retina, Brain, Eye, Bone, Endothelial, Spinal cord

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 101)
idTitleAuthorsYear
1
Is Susac syndrome associated with bipolar disorder? (27475050)
2016
2
Teen with Encephalopathy: Early Recognition of and Intervention for Susac Syndrome. (26991403)
2016
3
Rehabilitation of Susac Syndrome: A Case Report. (26829078)
2016
4
Branched Retinal Artery Occlusions and Susac Syndrome. (27159123)
2016
5
Do not forget susac syndrome in patients with unexplained acute confusion. (25680663)
2015
6
Central Serous Chorioretinopathy in Susac Syndrome. (25786202)
2015
7
A Rare Cause of Hearing Loss: Susac Syndrome. (26381010)
2015
8
Susac syndrome - clinical insight and strategies of therapy. (26004617)
2015
9
Incomplete Susac syndrome exacerbated after natalizumab. (26445727)
2015
10
Update on Susac syndrome: new insights in brain and retinal imaging and treatment options. (24662104)
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
Sneddon's syndrome versus Susac syndrome. (24505209)
2014
14
Diagnosis and classification of Susac syndrome. (24424186)
2014
15
Susac syndrome: an Italian case. (23828373)
2013
16
Characteristics of Susac syndrome: a review of all reported cases. (23628737)
2013
17
Susac Syndrome Treated with Subcutaneous Immunoglobulin. (24335148)
2013
18
A case of Susac syndrome. (24082778)
2013
19
Susac syndrome in a patient with human immunodeficiency virus infection. (23690260)
2013
20
Reply: Progression of retinal artery occlusion in Susac syndrome. (24510093)
2013
21
Reply: Fibrin-like material in the retinal arterioles and fluorescein angiography findings in Susac syndrome. (24232953)
2013
22
Susac syndrome and multifocal motor neuropathy first manifesting in pregnancy. (23521040)
2013
23
Diffuse cauda equina enhancement in a middle aged male with Susac syndrome and symptomatic cauda equina syndrome. (23845898)
2013
24
Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report. (24232952)
2013
25
Successful cochlear implantation in a Susac syndrome patient. (23306580)
2012
26
Lesion morphology at 7 Tesla MRI differentiates Susac syndrome from multiple sclerosis. (22711711)
2012
27
Susac syndrome: clinical characteristics and treatment in 29 new cases. (22221557)
2012
28
Susac syndrome and pregnancy: disease management. (21325959)
2011
29
Susac syndrome: outcome of unilateral cochlear implantation. (21481296)
2011
30
Gass plaques and fluorescein leakage in Susac Syndrome. (20880549)
2010
31
CT and MR imaging of Susac syndrome in a young male presenting with acute disorientation. (20189079)
2010
32
Severe retention hyperkeratosis occurring with Susac syndrome. (21062602)
2010
33
Branch retinal artery occlusion with visual field and multifocal erg in Susac syndrome: a case report. (20740301)
2010
34
Case 142: Susac syndrome. (19188329)
2009
35
Susac syndrome: a case report and PET imaging findings. (19902818)
2009
36
Diffusion tensor imaging demonstrates fiber impairment in Susac syndrome. (17959768)
2008
37
Susac syndrome and vestibular-evoked myogenic potentials. (18359373)
2008
38
Fluorescein and indocyanine green angiographies in Susac syndrome. (18779724)
2008
39
Fluorescein and indocyanine green angiographies in Susac syndrome. (18046231)
2007
40
Treatment of Susac syndrome with gamma globulin and corticosteroids. (17052732)
2006
41
Susac syndrome in four male patients. (17151493)
2006
42
Susac syndrome: serial diffusion-weighted MR imaging. (15607101)
2004
43
Evolution of lesions in Susac syndrome at serial MR imaging with diffusion-weighted imaging and apparent diffusion coefficient values. (15140708)
2004
44
Susac syndrome: report of four cases and review of the literature. (15037459)
2004
45
Susac syndrome. (12439681)
2002
46
Recurrence of Susac syndrome (retinocochleocerebral vasculopathy) after remission of 18 years. (11560310)
2001
47
Susac syndrome. (10844072)
2000
48
Susac syndrome: microangiopathy of the retina, cochlea and brain. (11097286)
2000
49
Susac syndrome. (9627253)
1998
50
Susac syndrome. (9465860)
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet