Multiple system atrophy 1, susceptibility to

Preferred Label : Multiple system atrophy 1, susceptibility to;

Symbol : MSA1;

CISMeF acronym : MSA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Msa1, susceptibility to;

Included titles and symbols : Autonomic failure, pure; Hypotension, orthostatic;

Description : Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein (SNCA; 163890) or tau (MAPT; 157140) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by the The Multiple-System Atrophy Research Collaboration, 2013). MSA is similar clinically and pathologically to Parkinson disease (PD; 168600) and Lewy body dementia (127750). See also PARK1 (168601), which is specifically caused by mutation in the SNCA gene. Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Susceptibility conferred by mutation in the Coenzyme Q2, polyprenyltransferase gene (COQ2, 609825.0006);

Prefixed ID : #146500;

Details

Origin ID

146500;

UMLS CUI

C3714927;

Automatic exact mappings (from CISMeF team)
- HYPOTENSION ORTHOSTATIC [WHO-ART Included Term]
- Hypotension orthostatic [MedDRA LLT]
- Multiple system atrophy [ICD-11 Subcategory]
- Orthostatic Hypotension [NCIt concept]
- Orthostatic hypotension [ICD-10 Sub-category]
- Orthostatic hypotension [MedDRA Preferred Term]
- Orthostatic hypotension [HPO term]
- Orthostatic hypotension [ICD-9 code]
- Orthostatic hypotension [ICD-11 Category]
- Orthostatic hypotension (disorder) [SNOMED CT concept]
- Pure autonomic failure [ORDO Disease]
- Pure autonomic failure (disorder) [SNOMED CT concept]
- autonomic nervous system diseases [MeSH Descriptor]
- autonomic nervous system disorders [MedlinePlus Topic]
- hypotension, orthostatic [MeSH concept]
- hypotension, orthostatic [MeSH Descriptor]
- low blood pressure [MedlinePlus Topic]
- merozoite surface protein 1 [MeSH Descriptor]
- orthostatic hypotension [SNOMED Notion]
- pure autonomic failure [MeSH concept]
- pure autonomic failure [MeSH Descriptor]
False automatic mappings
- orthostatic hypotension [Disease (Nov.)]
- pure autonomic failure [Disease (Nov.)]
Genes related to phenotype
- Coenzyme q2, polyprenyltransferase [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Adult onset [HPO term]
- Anhidrosis [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bladder and bowel incontinence [HPO term]
- Bradykinesia [HPO term]
- Cognitive impairment [HPO term]
- Dysarthria [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Hyperreflexia [HPO term]
- Hypohidrosis [HPO term]
- Impotence [HPO term]
- Iris atrophy [HPO term]
- Isolated cases [HPO term]
- Neurodegeneration [HPO term]
- Olivopontocerebellar atrophy [HPO term]
- Orthostatic hypotension [HPO term]
- Parkinsonism [HPO term]
- Postural instability [HPO term]
- Progressive [HPO term]
- Ptosis [HPO term]
- Rigidity [HPO term]
- Skeletal muscle atrophy [HPO term]
- Sporadic [HPO term]
- Tremor [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Multiple system atrophy [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to NTBT
- Multiple System Atrophy [NCIt concept]
- Multiple system atrophy [PASCAL descriptor]
- Multiple system atrophy [MedDRA Preferred Term]
- Multiple system atrophy [ORDO Disease]
- Multiple system atrophy (disorder) [SNOMED CT concept]
- multiple system atrophy [MeSH Descriptor]
- multiple system atrophy [MeSH concept]
- multiple system atrophy [Radlex concept]
- multiple system atrophy (MSA) with orthostatic hypotension [MeSH Supplementary Concept]

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