Susac Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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Diseases related to Susac Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)

id	Related Disease	Score
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 diseases related to Susac Syndrome:

Symptoms & Phenotypes for Susac Syndrome

Sources:
⁵⁴Orphanet, ⁶⁸UMLS
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Human phenotypes related to Susac Syndrome:

⁵⁴ (show all 16)

id	Description	Orphanet Frequency
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

Sources:
⁴ClinicalTrials
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Interventional clinical trials:

id	Name	Status	NCT ID
1	Investigation of Biomarkers in Susac Syndrome	Unknown status	NCT01273792
2	Establishment of Biomarkers for Fabry Disease	Completed	NCT01165697
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

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Susac Syndrome:

³⁶

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

Publications for Susac Syndrome

Sources:
⁵⁷PubMed
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Articles related to Susac Syndrome:

(show top 50) (show all 106)

id	Title	Authors	Year
1	Is Susac syndrome associated with bipolar disorder? (27475050)	Staelens C.... Lemmens G.	2016
2	Teen with Encephalopathy: Early Recognition of and Intervention for Susac Syndrome. (26991403)	Bullock D.R.... Hobday P.M.	2016
3	Progressive Susac syndrome with bilateral visual loss and disability. (27853020)	Entezari M.... Feizi M.	2016
4	Rehabilitation of Susac Syndrome: A Case Report. (26829078)	Ramey L.N.... Young T.	2016
5	Branched Retinal Artery Occlusions and Susac Syndrome. (27159123)	Kothari N.... Kuriyan A.E.	2016
6	Migraine-Like Headache as Presentation Symptom in Susac Syndrome. (27781269)	Kowacs F.... Castro Ribeiro M.	2016
7	Neurological, otolaryngological and ophthalmological implications of Susac syndrome - a case report. (27460737)	Grygiel-GA^rniak B.... Czaplicka E.	2016
8	Susac syndrome with prominent dermatological findings and a prompt response to intravenous immunoglobulin, steroids, and rituximab: a case report. (27234436)	Gertner E.... Rosenbloom M.H.	2016
9	Susac syndrome: clinical characteristics, clinical classification, and long-term prognosis. (27787385)	Vishnevskia-Dai V.... Zloto O.	2016
10	Short Follow-up Bias Confounds Estimates of the "Typical" Clinical Course of Susac Syndrome. (27984352)	Vodopivec I.... Prasad S.	2016
11	Potential benefits of early aggressive immunotherapy in Susac syndrome. (26786477)	London F.... Sindic C.J.	2016
12	Treatment of Susac Syndrome. (26715396)	Vodopivec I.... Prasad S.	2016
13	INTRAVITREAL TRIAMCINOLONE IN SUSAC SYNDROME. (27276498)	Yepez J.B.... Arevalo J.F.	2016
14	ULTRA-WIDE-FIELD FUNDUS IMAGING IN THE DIAGNOSIS AND FOLLOW-UP OF SUSAC SYNDROME. (27828899)	Salvanos P.... Kerty E.	2016
15	Retinal Neovascularisation in Susac Syndrome: A Rare Complication. (27127902)	Kumar K.... Agarwal A.	2016
16	Do not forget susac syndrome in patients with unexplained acute confusion. (25680663)	Star M.... Biller J.	2015
17	Central Serous Chorioretinopathy in Susac Syndrome. (25786202)	Artunay O.... Ertugay C.K.	2015
18	A Rare Cause of Hearing Loss: Susac Syndrome. (26381010)	Yurtsever B.... Yayla V.	2015
19	Susac syndrome - clinical insight and strategies of therapy. (26004617)	Grygiel-GA^rniak B.... Czaplicka E.	2015
20	Incomplete Susac syndrome exacerbated after natalizumab. (26445727)	Zhovtis Ryerson L.... Bielekova B.	2015
21	SUSAC SYNDROME. (26352322)	Patel K.H.... McDonald H.R.	2015
22	Retinal pathology in Susac syndrome detected by spectral-domain optical coherence tomography. (26203089)	Ringelstein M.... DAPrr J.	2015
23	A case of susac syndrome. (25553231)	Zande J.L.... Farooq M.U.	2015
24	Neurocognitive impairment in Susac syndrome: Magnetic resonance imaging and Tc-99m hexamethylpropyleneamine oxime single photon emission computed tomography correlation. (26588626)	Singh D.... Hsu C.C.	2015
25	RETINAL LESION EVOLUTION IN SUSAC SYNDROME. (26200513)	Brandt A.U.... DAPrr J.	2015
26	Clinical features, diagnostic findings, and treatment of Susac syndrome: A case series. (26148931)	Vodopivec I.... Prasad S.	2015
27	Susac syndrome: a report of four cases and a review of the literature. (26219936)	van der Kooij S.M.... Huizinga T.W.	2015
28	Clinical Reasoning: An unusual diagnostic triad. Susac syndrome, or retinocochleocerebral vasculopathy. (26195240)	Francis A.W.... Moss H.E.	2015
29	Update on Susac syndrome: new insights in brain and retinal imaging and treatment options. (24662104)	DAPrr J.... Kleffner I.	2014
30	Recurrence of Susac Syndrome following 23 Years of Remission. (24987361)	Feresiadou A.... Melberg A.	2014
31	What is Susac syndrome? - A brief review of articles. (25632332)	Nazari F.... Abdi S.	2014
32	Sneddon's syndrome versus Susac syndrome. (24505209)	Egan R.A.	2014
33	Diagnosis and classification of Susac syndrome. (24424186)	GarcA-a-Carrasco M.... Cervera R.	2014
34	Susac syndrome: diverse clinical findings and treatment. (25295909)	Bardal R.C.... Maia M.	2014
35	Clinical, paraclinical and serological findings in Susac syndrome: an international multicenter study. (24606999)	Jarius S.... Wildemann B.	2014
36	Susac syndrome. (25337735)	Freua F.... Rabello G.D.	2014
37	Central retinal artery occlusion and susac syndrome: a case report. (25372435)	Buelens T.... Postelmans L.	2014
38	Author reply: central retinal artery occlusion in a young female: Sneddon's syndrome versus Susac syndrome? (24654297)	Song H.B.... Woo S.J.	2014
39	Susac syndrome: an Italian case. (23828373)	Ferrante E.... Protti A.	2013
40	Characteristics of Susac syndrome: a review of all reported cases. (23628737)	DAPrr J.... Kleffner I.	2013
41	Susac Syndrome Treated with Subcutaneous Immunoglobulin. (24335148)	Kleffner I.... Schilling M.	2013
42	A case of Susac syndrome. (24082778)	Cho H.J.... Kim J.W.	2013
43	Susac syndrome in a patient with human immunodeficiency virus infection. (23690260)	Longbrake E.E.... Clifford D.B.	2013
44	Reply: Progression of retinal artery occlusion in Susac syndrome. (24510093)	Monteiro M.L.	2013
45	Reply: Fibrin-like material in the retinal arterioles and fluorescein angiography findings in Susac syndrome. (24232953)	Monteiro M.L.	2013
46	Susac syndrome and multifocal motor neuropathy first manifesting in pregnancy. (23521040)	Ioannides Z.A.... Henderson R.J.	2013
47	Diffuse cauda equina enhancement in a middle aged male with Susac syndrome and symptomatic cauda equina syndrome. (23845898)	Allmendinger A.M.... Hsu L.	2013
48	Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report. (24232952)	Egan R.A.	2013
49	Progression of retinal artery occlusion from one eye to the other seems to be a characteristic finding in Susac syndrome. (24510092)	Yildirim Y.... Kaya A.	2013
50	Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report. (23929083)	dos ApA^stolos-Pereira S.L.... Monteiro M.L.	2013