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:
30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Susac Syndrome:

Name: Susac Syndrome 47 53 67
Retinocochleocerebral Vasculopathy 47 53
Retinopathy-Encephalopathy-Deafness Associated with Microangiopathy 53
Small Infarctions of Cochlear, Retinal and Encephalic Tissue 53
 
Sicret Syndrome 47
Sicret Syndrome 53
Red-M 53

Characteristics:

Orphanet epidemiological data:

53
susac syndrome:
Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet53 ORPHA838
MESH via Orphanet39 D055955
UMLS via Orphanet68 C2717757
ICD10 via Orphanet30 I67.7

Summaries for Susac Syndrome

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MalaCards based summary: Susac Syndrome, also known as retinocochleocerebral vasculopathy, is related to retinitis and retinal artery occlusion, and has symptoms including Array, Array and Array. Affiliated tissues include eye, bone and retina.

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 18)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis10.3
2retinal artery occlusion10.1
3central retinal artery occlusion10.0
4branch retinal artery occlusion9.9
5encephalopathy9.9
6bipolar disorder9.8
7hepatitis9.7
8multifocal motor neuropathy9.7
9sensorineural hearing loss9.7
10retinal vasculitis9.7
11cauda equina syndrome9.7
12hepatitis c9.7
13cervicitis9.7
14vasculitis9.7
15neuropathy9.7
16central serous chorioretinopathy9.7
17headache9.7
18endotheliitis9.7

Graphical network of diseases related to Susac Syndrome:



Diseases related to susac syndrome

Symptoms for Susac Syndrome

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Human phenotypes related to Susac Syndrome:

 53 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment53 Frequent (79-30%)
2 visual loss53 Frequent (79-30%)
3 confusion53 Frequent (79-30%)
4 generalized hypotonia53 Frequent (79-30%)
5 cognitive impairment53 Frequent (79-30%)
6 tinnitus53 Occasional (29-5%)
7 abnormality of eye movement53 Occasional (29-5%)
8 diplopia53 Occasional (29-5%)
9 behavioral abnormality53 Occasional (29-5%)
10 psychosis53 Occasional (29-5%)
11 apathy53 Occasional (29-5%)
12 personality changes53 Occasional (29-5%)
13 dysarthria53 Occasional (29-5%)
14 nausea and vomiting53 Occasional (29-5%)
15 gait ataxia53 Occasional (29-5%)
16 vertigo53 Occasional (29-5%)

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
1Investigation of Biomarkers in Susac SyndromeUnknown statusNCT01273792
2Establishment of Biomarkers for Fabry DiseaseCompletedNCT01165697
3Epidemiological, Clinical and Etiological Features of SUSAC's SyndromeRecruitingNCT01481662

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:

35
Eye, Bone, Retina, Brain, 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 106)
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
Progressive Susac syndrome with bilateral visual loss and disability. (27853020)
2016
4
Rehabilitation of Susac Syndrome: A Case Report. (26829078)
2016
5
Branched Retinal Artery Occlusions and Susac Syndrome. (27159123)
2016
6
Do not forget susac syndrome in patients with unexplained acute confusion. (25680663)
2015
7
Central Serous Chorioretinopathy in Susac Syndrome. (25786202)
2015
8
A Rare Cause of Hearing Loss: Susac Syndrome. (26381010)
2015
9
Susac syndrome - clinical insight and strategies of therapy. (26004617)
2015
10
Incomplete Susac syndrome exacerbated after natalizumab. (26445727)
2015
11
Update on Susac syndrome: new insights in brain and retinal imaging and treatment options. (24662104)
2014
12
Recurrence of Susac Syndrome following 23 Years of Remission. (24987361)
2014
13
What is Susac syndrome? - A brief review of articles. (25632332)
2014
14
Sneddon's syndrome versus Susac syndrome. (24505209)
2014
15
Diagnosis and classification of Susac syndrome. (24424186)
2014
16
Susac syndrome: an Italian case. (23828373)
2013
17
Characteristics of Susac syndrome: a review of all reported cases. (23628737)
2013
18
Susac Syndrome Treated with Subcutaneous Immunoglobulin. (24335148)
2013
19
A case of Susac syndrome. (24082778)
2013
20
Susac syndrome in a patient with human immunodeficiency virus infection. (23690260)
2013
21
Reply: Progression of retinal artery occlusion in Susac syndrome. (24510093)
2013
22
Reply: Fibrin-like material in the retinal arterioles and fluorescein angiography findings in Susac syndrome. (24232953)
2013
23
Susac syndrome and multifocal motor neuropathy first manifesting in pregnancy. (23521040)
2013
24
Diffuse cauda equina enhancement in a middle aged male with Susac syndrome and symptomatic cauda equina syndrome. (23845898)
2013
25
Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report. (24232952)
2013
26
Successful cochlear implantation in a Susac syndrome patient. (23306580)
2012
27
Lesion morphology at 7 Tesla MRI differentiates Susac syndrome from multiple sclerosis. (22711711)
2012
28
Susac syndrome: clinical characteristics and treatment in 29 new cases. (22221557)
2012
29
Susac syndrome and pregnancy: disease management. (21325959)
2011
30
Susac syndrome: outcome of unilateral cochlear implantation. (21481296)
2011
31
Gass plaques and fluorescein leakage in Susac Syndrome. (20880549)
2010
32
CT and MR imaging of Susac syndrome in a young male presenting with acute disorientation. (20189079)
2010
33
Severe retention hyperkeratosis occurring with Susac syndrome. (21062602)
2010
34
Branch retinal artery occlusion with visual field and multifocal erg in Susac syndrome: a case report. (20740301)
2010
35
Case 142: Susac syndrome. (19188329)
2009
36
Susac syndrome: a case report and PET imaging findings. (19902818)
2009
37
Diffusion tensor imaging demonstrates fiber impairment in Susac syndrome. (17959768)
2008
38
Susac syndrome and vestibular-evoked myogenic potentials. (18359373)
2008
39
Fluorescein and indocyanine green angiographies in Susac syndrome. (18779724)
2008
40
Fluorescein and indocyanine green angiographies in Susac syndrome. (18046231)
2007
41
Treatment of Susac syndrome with gamma globulin and corticosteroids. (17052732)
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet