MCID: SSC001
MIFTS: 36
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Susac Syndrome
Categories:
Rare diseases, Cardiovascular diseases, Ear diseases, Neuronal diseases, Bone diseases
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MalaCards integrated aliases for Susac Syndrome:
Characteristics:Orphanet epidemiological data:55
susac syndrome
Age of onset: All ages; Age of death: normal life expectancy; Classifications:
MalaCards categories:
Global: Rare diseases Anatomical: Cardiovascular diseases Ear diseases Neuronal diseases Bone diseases
ICD10:
33
Orphanet: 55
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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. |
Human phenotypes related to Susac Syndrome:55 31 (show all 23)
UMLS symptoms related to Susac Syndrome:neuromuscular manifestations, neurobehavioral manifestations, eye pain, photophobia, vertigo, seizures, reflex, abnormal, pain, meningism, eye manifestations, earache |
Interventional clinical trials:![]()
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MalaCards organs/tissues related to Susac Syndrome:38
Brain,
Retina,
Testes,
Eye,
Bone,
Endothelial,
Spinal Cord
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Articles related to Susac Syndrome:(show top 50) (show all 125)
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Search
GEO
for disease gene expression data for Susac Syndrome.
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