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Experimental Factor Ontology
| Preferred Name | multiple system atrophy | |
| Synonyms |
susceptibility to multiple system atrophy 1 autonomic failure, Pure hypotension, orthostatic Shy-dragger syndrome (formerly) multisystem atrophy Shy-Drager Syndrome Shy-McGee-Drager syndrome Shy-Drager syndrome orthostatic hypotension syndrome multiple system atrophy Multiple system atrophy (disorder) MSA |
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| Definitions |
A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536) Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_1001050 |
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| closeMatch | ||
| database_cross_reference |
NCIT:C84909 MESH:D019578 MONDO:0007803 MeSH:D012791 UMLS:C0393571 icd11.foundation:1890931931 Orphanet:102 NANDO:1200034 MedDRA:10064060 MeSH:D019578 SNOMEDCT:230297002 NCIt:C84909 MEDGEN:98276 DOID:4752 GARD:7079 NORD:1472
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| definition |
A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536) Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.
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| disease arises from feature | ||
| exactMatch |
http://purl.obolibrary.org/obo/EFO_1001050 http://purl.obolibrary.org/obo/NCIT_C84909 http://purl.obolibrary.org/obo/Orphanet_102 http://identifiers.org/medgen/98276 http://identifiers.org/mesh/D019578 http://purl.obolibrary.org/obo/DOID_4752 http://linkedlifedata.com/resource/umls/id/C0393571 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1890931931 |
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| gwas_trait |
true
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| has_exact_synonym |
multisystem atrophy Shy-Drager Syndrome Shy-McGee-Drager syndrome Shy-Drager syndrome orthostatic hypotension syndrome multiple system atrophy Multiple system atrophy (disorder) MSA
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| has_related_synonym |
susceptibility to multiple system atrophy 1 autonomic failure, Pure hypotension, orthostatic Shy-dragger syndrome (formerly)
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| id |
EFO:1001050
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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| label |
multiple system atrophy
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| notation |
EFO:1001050
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| preferred label |
multiple system atrophy
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| prefLabel |
multiple system atrophy
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| term editor |
Sirarat Sarntivijai Gautier Koscielny
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| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0004280 |
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| excluded_subClassOf |
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| No notes to display |