MCID: SSC001
MIFTS: 36

Susac Syndrome

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

Aliases & Classifications for Susac Syndrome

MalaCards integrated aliases for Susac Syndrome:

Name: Susac Syndrome 49 55 69
Retinocochleocerebral Vasculopathy 49 55
Retinopathy-Encephalopathy-Deafness Associated with Microangiopathy 55
Small Infarctions of Cochlear, Retinal and Encephalic Tissue 55
Sicret Syndrome 49
Sicret Syndrome 55
Red-M 55

Characteristics:

Orphanet epidemiological data:

55
susac syndrome
Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



Summaries for Susac Syndrome

NIH Rare Diseases : 49 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 headache, sensorineural hearing impairment and visual loss. Affiliated tissues include brain, retina and testes.

Related Diseases for Susac Syndrome

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:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 55 31 hallmark (90%) Very frequent (99-80%) HP:0002315
2 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
3 visual loss 55 31 frequent (33%) Frequent (79-30%) HP:0000572
4 abnormality of the corpus callosum 55 31 frequent (33%) Frequent (79-30%) HP:0001273
5 confusion 55 31 frequent (33%) Frequent (79-30%) HP:0001289
6 generalized hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001290
7 cognitive impairment 55 31 frequent (33%) Frequent (79-30%) HP:0100543
8 tinnitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000360
9 abnormality of eye movement 55 31 occasional (7.5%) Occasional (29-5%) HP:0000496
10 diplopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000651
11 psychosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000709
12 apathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000741
13 personality changes 55 31 occasional (7.5%) Occasional (29-5%) HP:0000751
14 lethargy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001254
15 dysarthria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001260
16 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
17 nausea and vomiting 55 31 occasional (7.5%) Occasional (29-5%) HP:0002017
18 gait ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002066
19 vertigo 55 31 occasional (7.5%) Occasional (29-5%) HP:0002321
20 upper motor neuron dysfunction 55 31 occasional (7.5%) Occasional (29-5%) HP:0002493
21 sensory impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0003474
22 behavioral abnormality 55 Occasional (29-5%)
23 abnormal emotion/affect behavior 55 Occasional (29-5%)

UMLS symptoms related to Susac Syndrome:


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

Drugs & Therapeutics for Susac Syndrome

Interventional clinical trials:


# 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:

38
Brain, Retina, Testes, Eye, Bone, Endothelial, Spinal Cord

Publications for Susac Syndrome

Articles related to Susac Syndrome:

(show top 50) (show all 125)
# Title Authors Year
1
Characteristics of headache in relation to the manifestation of Susac syndrome. ( 29449066 )
2018
2
Guidelines for treatment of Susac syndrome - An update. ( 29319463 )
2018
3
Retinal Arterio-Arterial Collaterals in Susac Syndrome. ( 29341996 )
2018
4
Gastrointestinal compromise in Susac Syndrome. ( 28716271 )
2017
5
Susac syndrome: the first case report in Peru. ( 28885997 )
2017
6
Urodynamic findings in Susac syndrome: first reported filling cystometrogram. ( 28705845 )
2017
7
Susac syndrome misdiagnosed as multiple sclerosis with exacerbation by interferon beta therapy. ( 28644112 )
2017
8
Delirium as presentation of late-onset and relapsing Susac syndrome. ( 28784886 )
2017
9
Optical coherence tomography angiography in the early diagnosis of Susac syndrome. ( 28958398 )
2017
10
Evaluation of Retinal Changes Using Optical Coherence Tomography in a Pediatric Case of Susac Syndrome. ( 28182173 )
2017
11
Susac Syndrome: A differential diagnosis of white matter lesions. ( 28641772 )
2017
12
Susac Syndrome: A Rare Cause of a Confusional State. ( 29103247 )
2017
13
Clinically-diagnosed Susac syndrome in a 50-year-old. ( 28899478 )
2017
14
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN SUSAC SYNDROME. ( 29016525 )
2017
15
Anatomical and functional correlation in Susac syndrome: multimodal imaging assessment. ( 29051833 )
2017
16
Neuropsychological outcome of a case of Susac syndrome: A two-year follow-up study. ( 28922012 )
2017
17
A report of third case of Susac syndrome from India. ( 28879939 )
2017
18
Autoimmune-Mediated Psychosis: A Case of Susac Syndrome in a Drug User. ( 28368694 )
2017
19
Potential benefits of early aggressive immunotherapy in Susac syndrome. ( 26786477 )
2016
20
Branched Retinal Artery Occlusions and Susac Syndrome. ( 27159123 )
2016
21
Retinal Neovascularisation in Susac Syndrome: A Rare Complication. ( 27127902 )
2016
22
Migraine-Like Headache as Presentation Symptom in Susac Syndrome. ( 27781269 )
2016
23
Susac syndrome: clinical characteristics, clinical classification, and long-term prognosis. ( 27787385 )
2016
24
ULTRA-WIDE-FIELD FUNDUS IMAGING IN THE DIAGNOSIS AND FOLLOW-UP OF SUSAC SYNDROME. ( 27828899 )
2016
25
Progressive Susac syndrome with bilateral visual loss and disability. ( 27853020 )
2016
26
Neurological, otolaryngological and ophthalmological implications of Susac syndrome - a case report. ( 27460737 )
2016
27
Diagnostic criteria for Susac syndrome. ( 28103199 )
2016
28
INTRAVITREAL TRIAMCINOLONE IN SUSAC SYNDROME. ( 27276498 )
2016
29
Is Susac syndrome associated with bipolar disorder? ( 27475050 )
2016
30
Susac syndrome with prominent dermatological findings and a prompt response to intravenous immunoglobulin, steroids, and rituximab: a case report. ( 27234436 )
2016
31
Short Follow-up Bias Confounds Estimates of the "Typical" Clinical Course of Susac Syndrome. ( 27984352 )
2016
32
Teen with Encephalopathy: Early Recognition of and Intervention for Susac Syndrome. ( 26991403 )
2016
33
Rehabilitation of Susac Syndrome: A Case Report. ( 26829078 )
2016
34
Treatment of Susac Syndrome. ( 26715396 )
2016
35
A case of susac syndrome. ( 25553231 )
2015
36
Clinical features, diagnostic findings, and treatment of Susac syndrome: A case series. ( 26148931 )
2015
37
Neurocognitive impairment in Susac syndrome: Magnetic resonance imaging and Tc-99m hexamethylpropyleneamine oxime single photon emission computed tomography correlation. ( 26588626 )
2015
38
SUSAC SYNDROME. ( 26352322 )
2015
39
Do not forget susac syndrome in patients with unexplained acute confusion. ( 25680663 )
2015
40
Clinical Reasoning: An unusual diagnostic triad. Susac syndrome, or retinocochleocerebral vasculopathy. ( 26195240 )
2015
41
Retinal pathology in Susac syndrome detected by spectral-domain optical coherence tomography. ( 26203089 )
2015
42
RETINAL LESION EVOLUTION IN SUSAC SYNDROME. ( 26200513 )
2015
43
Central Serous Chorioretinopathy in Susac Syndrome. ( 25786202 )
2015
44
A Rare Cause of Hearing Loss: Susac Syndrome. ( 26381010 )
2015
45
Susac syndrome - clinical insight and strategies of therapy. ( 26004617 )
2015
46
Susac syndrome: a report of four cases and a review of the literature. ( 26219936 )
2015
47
Incomplete Susac syndrome exacerbated after natalizumab. ( 26445727 )
2015
48
Susac syndrome: diverse clinical findings and treatment. ( 25295909 )
2014
49
Author reply: central retinal artery occlusion in a young female: Sneddon's syndrome versus Susac syndrome? ( 24654297 )
2014
50
What is Susac syndrome? - A brief review of articles. ( 25632332 )
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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