MCID: SSC001
MIFTS: 32

Susac Syndrome

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

Aliases & Classifications for Susac Syndrome

MalaCards integrated aliases for Susac Syndrome:

Name: Susac Syndrome 50 56 69
Retinocochleocerebral Vasculopathy 50 56
Retinopathy-Encephalopathy-Deafness Associated with Microangiopathy 56
Small Infarctions of Cochlear, Retinal and Encephalic Tissue 56
Sicret Syndrome 50
Sicret Syndrome 56
Red-M 56

Characteristics:

Orphanet epidemiological data:

56
susac syndrome
Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



Summaries for Susac Syndrome

NIH Rare Diseases : 50 susac syndrome is an autoimmune condition that affects the very small blood vessels in the brain, retina, and inner ear (cochlea). the condition is characterized by three main symptoms: brain disease (encephalopathy), hearing loss, and vision loss. some people may not have all signs of susac syndrome, but instead develop only specific combinations of the symptoms. susac syndrome affects women more than men. the age at which symptoms begin is usually between 20 and 40 years, but some people have symptoms earlier or later than this age range. the cause of susac syndrome is still unknown. diagnosis is based on a clinical exam and imaging tests to look for the specific signs of susac syndrome. treatment options include corticosteroids and cyclophosphamide as well as anticoagulation medications. most people recover from susac syndrome with treatment.  last updated: 2/25/2017

MalaCards based summary : Susac Syndrome, also known as retinocochleocerebral vasculopathy, is related to retinitis and retinal artery occlusion, and has symptoms including sensorineural hearing impairment, visual loss and confusion. Affiliated tissues include brain, retina and testes.

Related Diseases for Susac Syndrome

Diseases related to Susac Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
id Related Disease Score Top Affiliating Genes
1 retinitis 10.3
2 retinal artery occlusion 10.1
3 central retinal artery occlusion 10.0
4 branch retinal artery occlusion 9.9
5 encephalopathy 9.9
6 bipolar disorder 9.8
7 hepatitis 9.7
8 multifocal motor neuropathy 9.7
9 sensorineural hearing loss 9.7
10 retinal vasculitis 9.7
11 cauda equina syndrome 9.7
12 hepatitis c 9.7
13 cervicitis 9.7
14 vasculitis 9.7
15 neuropathy 9.7
16 central serous chorioretinopathy 9.7
17 headache 9.7
18 endotheliitis 9.7

Graphical network of the top 20 diseases related to Susac Syndrome:



Diseases related to Susac Syndrome

Symptoms & Phenotypes for Susac Syndrome

Human phenotypes related to Susac Syndrome:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000407
2 visual loss 56 32 frequent (33%) Frequent (79-30%) HP:0000572
3 confusion 56 32 frequent (33%) Frequent (79-30%) HP:0001289
4 generalized hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001290
5 cognitive impairment 56 32 frequent (33%) Frequent (79-30%) HP:0100543
6 tinnitus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000360
7 abnormality of eye movement 56 32 occasional (7.5%) Occasional (29-5%) HP:0000496
8 diplopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000651
9 psychosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000709
10 apathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000741
11 personality changes 56 32 occasional (7.5%) Occasional (29-5%) HP:0000751
12 dysarthria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001260
13 nausea and vomiting 56 32 occasional (7.5%) Occasional (29-5%) HP:0002017
14 gait ataxia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002066
15 vertigo 56 32 occasional (7.5%) Occasional (29-5%) HP:0002321
16 behavioral abnormality 56 Occasional (29-5%)

UMLS symptoms related to Susac Syndrome:


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

Drugs & Therapeutics for Susac Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Establishment of Biomarkers for Fabry Disease Completed NCT01165697
2 Investigation of Biomarkers in Susac Syndrome Recruiting NCT01273792
3 Epidemiological, Clinical and Etiological Features of SUSAC's Syndrome Recruiting NCT01481662

Search NIH Clinical Center for Susac Syndrome

Genetic Tests for Susac Syndrome

Anatomical Context for Susac Syndrome

MalaCards organs/tissues related to Susac Syndrome:

39
Brain, Retina, Testes, Eye, Bone, Endothelial, Spinal Cord

Publications for Susac Syndrome

Articles related to Susac Syndrome:

(show top 50) (show all 118)
id Title Authors Year
1
Gastrointestinal compromise in Susac Syndrome. ( 28716271 )
2017
2
A report of third case of Susac syndrome from India. ( 28879939 )
2017
3
Susac Syndrome: A differential diagnosis of white matter lesions. ( 28641772 )
2017
4
Urodynamic findings in Susac syndrome: first reported filling cystometrogram. ( 28705845 )
2017
5
Neuropsychological outcome of a case of Susac syndrome: A two-year follow-up study. ( 28922012 )
2017
6
Evaluation of Retinal Changes Using Optical Coherence Tomography in a Pediatric Case of Susac Syndrome. ( 28182173 )
2017
7
Delirium as presentation of late-onset and relapsing Susac syndrome. ( 28784886 )
2017
8
Susac syndrome misdiagnosed as multiple sclerosis with exacerbation by interferon beta therapy. ( 28644112 )
2017
9
Autoimmune-Mediated Psychosis: A Case of Susac Syndrome in a Drug User. ( 28368694 )
2017
10
Clinically-diagnosed Susac syndrome in a 50-year-old. ( 28899478 )
2017
11
Susac syndrome: the first case report in Peru. ( 28885997 )
2017
12
Susac syndrome with prominent dermatological findings and a prompt response to intravenous immunoglobulin, steroids, and rituximab: a case report. ( 27234436 )
2016
13
Migraine-Like Headache as Presentation Symptom in Susac Syndrome. ( 27781269 )
2016
14
ULTRA-WIDE-FIELD FUNDUS IMAGING IN THE DIAGNOSIS AND FOLLOW-UP OF SUSAC SYNDROME. ( 27828899 )
2016
15
Potential benefits of early aggressive immunotherapy in Susac syndrome. ( 26786477 )
2016
16
Diagnostic criteria for Susac syndrome. ( 28103199 )
2016
17
Branched Retinal Artery Occlusions and Susac Syndrome. ( 27159123 )
2016
18
Teen with Encephalopathy: Early Recognition of and Intervention for Susac Syndrome. ( 26991403 )
2016
19
Rehabilitation of Susac Syndrome: A Case Report. ( 26829078 )
2016
20
INTRAVITREAL TRIAMCINOLONE IN SUSAC SYNDROME. ( 27276498 )
2016
21
Progressive Susac syndrome with bilateral visual loss and disability. ( 27853020 )
2016
22
Short Follow-up Bias Confounds Estimates of the "Typical" Clinical Course of Susac Syndrome. ( 27984352 )
2016
23
Retinal Neovascularisation in Susac Syndrome: A Rare Complication. ( 27127902 )
2016
24
Susac syndrome: clinical characteristics, clinical classification, and long-term prognosis. ( 27787385 )
2016
25
Neurological, otolaryngological and ophthalmological implications of Susac syndrome - a case report. ( 27460737 )
2016
26
Is Susac syndrome associated with bipolar disorder? ( 27475050 )
2016
27
Treatment of Susac Syndrome. ( 26715396 )
2016
28
Susac syndrome: a report of four cases and a review of the literature. ( 26219936 )
2015
29
Clinical features, diagnostic findings, and treatment of Susac syndrome: A case series. ( 26148931 )
2015
30
RETINAL LESION EVOLUTION IN SUSAC SYNDROME. ( 26200513 )
2015
31
Retinal pathology in Susac syndrome detected by spectral-domain optical coherence tomography. ( 26203089 )
2015
32
A Rare Cause of Hearing Loss: Susac Syndrome. ( 26381010 )
2015
33
A case of susac syndrome. ( 25553231 )
2015
34
Neurocognitive impairment in Susac syndrome: Magnetic resonance imaging and Tc-99m hexamethylpropyleneamine oxime single photon emission computed tomography correlation. ( 26588626 )
2015
35
Do not forget susac syndrome in patients with unexplained acute confusion. ( 25680663 )
2015
36
Clinical Reasoning: An unusual diagnostic triad. Susac syndrome, or retinocochleocerebral vasculopathy. ( 26195240 )
2015
37
Central Serous Chorioretinopathy in Susac Syndrome. ( 25786202 )
2015
38
Susac syndrome - clinical insight and strategies of therapy. ( 26004617 )
2015
39
SUSAC SYNDROME. ( 26352322 )
2015
40
Incomplete Susac syndrome exacerbated after natalizumab. ( 26445727 )
2015
41
Recurrence of Susac Syndrome following 23 Years of Remission. ( 24987361 )
2014
42
Sneddon's syndrome versus Susac syndrome. ( 24505209 )
2014
43
Update on Susac syndrome: new insights in brain and retinal imaging and treatment options. ( 24662104 )
2014
44
What is Susac syndrome? - A brief review of articles. ( 25632332 )
2014
45
Susac syndrome. ( 25337735 )
2014
46
Diagnosis and classification of Susac syndrome. ( 24424186 )
2014
47
Author reply: central retinal artery occlusion in a young female: Sneddon's syndrome versus Susac syndrome? ( 24654297 )
2014
48
Clinical, paraclinical and serological findings in Susac syndrome: an international multicenter study. ( 24606999 )
2014
49
Susac syndrome: diverse clinical findings and treatment. ( 25295909 )
2014
50
Central retinal artery occlusion and susac syndrome: a case report. ( 25372435 )
2014

Variations for Susac Syndrome

Expression for Susac Syndrome

Search GEO for disease gene expression data for Susac Syndrome.

Pathways for Susac Syndrome

GO Terms for Susac Syndrome

Sources for Susac Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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