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:
31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Susac Syndrome:

Name: Susac Syndrome 48 54 68
Retinocochleocerebral Vasculopathy 48 54
Retinopathy-Encephalopathy-Deafness Associated with Microangiopathy 54
Small Infarctions of Cochlear, Retinal and Encephalic Tissue 54
 
Sicret Syndrome 48
Sicret Syndrome 54
Red-M 54

Characteristics:

Orphanet epidemiological data:

54
susac syndrome:
Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet54 ORPHA838
MESH via Orphanet40 D055955
UMLS via Orphanet69 C2717757
ICD10 via Orphanet31 I67.7

Summaries for Susac Syndrome

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NIH Rare Diseases:48 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 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 & Phenotypes for Susac Syndrome

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Human phenotypes related to Susac Syndrome:

 54 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment54 Frequent (79-30%)
2 visual loss54 Frequent (79-30%)
3 confusion54 Frequent (79-30%)
4 generalized hypotonia54 Frequent (79-30%)
5 cognitive impairment54 Frequent (79-30%)
6 tinnitus54 Occasional (29-5%)
7 abnormality of eye movement54 Occasional (29-5%)
8 diplopia54 Occasional (29-5%)
9 behavioral abnormality54 Occasional (29-5%)
10 psychosis54 Occasional (29-5%)
11 apathy54 Occasional (29-5%)
12 personality changes54 Occasional (29-5%)
13 dysarthria54 Occasional (29-5%)
14 nausea and vomiting54 Occasional (29-5%)
15 gait ataxia54 Occasional (29-5%)
16 vertigo54 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:

36
Eye, Bone, Retina, Brain, Endothelial, Spinal cord

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
Migraine-Like Headache as Presentation Symptom in Susac Syndrome. (27781269)
2016
7
Neurological, otolaryngological and ophthalmological implications of Susac syndrome - a case report. (27460737)
2016
8
Susac syndrome with prominent dermatological findings and a prompt response to intravenous immunoglobulin, steroids, and rituximab: a case report. (27234436)
2016
9
Susac syndrome: clinical characteristics, clinical classification, and long-term prognosis. (27787385)
2016
10
Short Follow-up Bias Confounds Estimates of the "Typical" Clinical Course of Susac Syndrome. (27984352)
2016
11
Potential benefits of early aggressive immunotherapy in Susac syndrome. (26786477)
2016
12
Treatment of Susac Syndrome. (26715396)
2016
13
INTRAVITREAL TRIAMCINOLONE IN SUSAC SYNDROME. (27276498)
2016
14
ULTRA-WIDE-FIELD FUNDUS IMAGING IN THE DIAGNOSIS AND FOLLOW-UP OF SUSAC SYNDROME. (27828899)
2016
15
Retinal Neovascularisation in Susac Syndrome: A Rare Complication. (27127902)
2016
16
Do not forget susac syndrome in patients with unexplained acute confusion. (25680663)
2015
17
Central Serous Chorioretinopathy in Susac Syndrome. (25786202)
2015
18
A Rare Cause of Hearing Loss: Susac Syndrome. (26381010)
2015
19
Susac syndrome - clinical insight and strategies of therapy. (26004617)
2015
20
Incomplete Susac syndrome exacerbated after natalizumab. (26445727)
2015
21
SUSAC SYNDROME. (26352322)
2015
22
Retinal pathology in Susac syndrome detected by spectral-domain optical coherence tomography. (26203089)
2015
23
A case of susac syndrome. (25553231)
2015
24
Neurocognitive impairment in Susac syndrome: Magnetic resonance imaging and Tc-99m hexamethylpropyleneamine oxime single photon emission computed tomography correlation. (26588626)
2015
25
RETINAL LESION EVOLUTION IN SUSAC SYNDROME. (26200513)
2015
26
Clinical features, diagnostic findings, and treatment of Susac syndrome: A case series. (26148931)
2015
27
Susac syndrome: a report of four cases and a review of the literature. (26219936)
2015
28
Clinical Reasoning: An unusual diagnostic triad. Susac syndrome, or retinocochleocerebral vasculopathy. (26195240)
2015
29
Update on Susac syndrome: new insights in brain and retinal imaging and treatment options. (24662104)
2014
30
Recurrence of Susac Syndrome following 23 Years of Remission. (24987361)
2014
31
What is Susac syndrome? - A brief review of articles. (25632332)
2014
32
Sneddon's syndrome versus Susac syndrome. (24505209)
2014
33
Diagnosis and classification of Susac syndrome. (24424186)
2014
34
Susac syndrome: diverse clinical findings and treatment. (25295909)
2014
35
Clinical, paraclinical and serological findings in Susac syndrome: an international multicenter study. (24606999)
2014
36
Susac syndrome. (25337735)
2014
37
Central retinal artery occlusion and susac syndrome: a case report. (25372435)
2014
38
Author reply: central retinal artery occlusion in a young female: Sneddon's syndrome versus Susac syndrome? (24654297)
2014
39
Susac syndrome: an Italian case. (23828373)
2013
40
Characteristics of Susac syndrome: a review of all reported cases. (23628737)
2013
41
Susac Syndrome Treated with Subcutaneous Immunoglobulin. (24335148)
2013
42
A case of Susac syndrome. (24082778)
2013
43
Susac syndrome in a patient with human immunodeficiency virus infection. (23690260)
2013
44
Reply: Progression of retinal artery occlusion in Susac syndrome. (24510093)
2013
45
Reply: Fibrin-like material in the retinal arterioles and fluorescein angiography findings in Susac syndrome. (24232953)
2013
46
Susac syndrome and multifocal motor neuropathy first manifesting in pregnancy. (23521040)
2013
47
Diffuse cauda equina enhancement in a middle aged male with Susac syndrome and symptomatic cauda equina syndrome. (23845898)
2013
48
Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report. (24232952)
2013
49
Progression of retinal artery occlusion from one eye to the other seems to be a characteristic finding in Susac syndrome. (24510092)
2013
50
Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report. (23929083)
2013

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet