ORPHA:102
Multiple system atrophy
Synonyms: MSA · Multisystem atrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adult
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple system atrophy | MSA · Multisystem atrophy |
| fr | Atrophie multisystématisée | AMS · Atrophie multisystémique · MSA |
| de | Multiple Systematrophie | MSA · Multisystematrophie |
| es | Atrofia multisistémica | AMS |
| it | Atrofia sistemica multipla | Atrofia multisistemica · MSA |
| nl | Multipele systeematrofie | MSA · Multisysteematrofie |
| pt | Atrofia sistémica múltipla | |
| pl | Zanik wieloukładowy | MSA |
| cs | Mnohočetná systémová atrofie | MSA · Multisystémová atrofie |
| uk | Множинна системна атрофія | MSA · Мультисистемна атрофія |
| zh | 多系统萎缩 | 多系统萎缩 |
| tr | Çoklu sistem atrofisi | MSA · Multisistem atrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146500 | E | validated | |
| ICD-10 | G23.2 | BTNT | attributed | validated |
| ICD-10 | G23.3 | BTNT | attributed | validated |
| ICD-11 | 8D87.0 | E | specific | validated |
| MONDO | 0007803 | E | validated | |
| MeSH | D019578 | E | validated | |
| UMLS | C0393571 | E | validated | |
| GARD | 7079 | E | validated | |
| MedDRA | 10064060 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:306695Miscellaneous movement disorder due to neurodegenerative disease
rare neurological diseases - ORPHA:182058Primary orthostatic hypotension
rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:98932OBSOLETE: Shy-Drager syndrome referred to · inactive
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| COQ2 | ORPHA:98933Multiple system atrophy, parkinsonian type | Major susceptibility factor in | Assessed | HGNC:25223 | ENSG00000173085 | 609825 | 4q21.23 | coenzyme Q2, polyprenyltransferase | 23758206[PMID] |
| COQ2 | ORPHA:227510Multiple system atrophy, cerebellar type | Major susceptibility factor in | Assessed | HGNC:25223 | ENSG00000173085 | 609825 | 4q21.23 | coenzyme Q2, polyprenyltransferase | 23758206[PMID] |
5
Prevalence and incidence
13 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.7 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 3.5 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Annual incidence | 1-9 / 100 000 | 1.8 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Annual incidence | 1-9 / 1 000 000 | 0.7 / 100 000 | Iceland | Value and class | Validated | 23192520[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.4 / 100 000 | Iceland | Value and class | Validated | 23192520[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.1 / 100 000 | Sweden | Value and class | Validated | 20108376[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.4 / 100 000 | United Kingdom | Value and class | Validated | 10577638[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.6 / 100 000 | United States | Value and class | Validated | 9371909[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.9 / 100 000 | France | Value and class | Validated | 10841152[PMID]_15272223[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.11 / 100 000 | Russian Federation | Value and class | Validated | 20108378[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.9 / 100 000 | Italy | Value and class | Validated | 9613728[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.3 / 100 000 | Japan | Value and class | Validated | 20880268[PMID]_19169038[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.3 / 100 000 | Faroe Islands | Value and class | Validated | 9270572[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
27 annotations · validated 2018-03-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | Diagnostic criterion |
| HP:0012658 | Abnormal brain FDG positron emission tomography | |
| HP:0007256 | Abnormal pyramidal sign | Diagnostic criterion |
| HP:0002494 | Abnormal rapid eye movement sleep | |
| HP:0005341 | Autonomic bladder dysfunction | Diagnostic criterion |
| HP:0008652 | Autonomic erectile dysfunction | |
| HP:0002530 | Axial dystonia | |
| HP:0002067 | Bradykinesia | |
| HP:0100595 | Camptocormia | |
| HP:0010536 | Central sleep apnea | |
| HP:0002019 | Constipation | |
| HP:0001260 | Dysarthria | |
| HP:0030015 | Female anorgasmia | |
| HP:0002359 | Frequent falls | |
| HP:0002066 | Gait ataxia | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | Diagnostic criterion |
| HP:0012670 | Orthostatic syncope | |
| HP:0001300 | Parkinsonism | Diagnostic criterion |
| HP:0002172 | Postural instability | |
| HP:0002174 | Postural tremor | |
| HP:0002073 | Progressive cerebellar ataxia | Diagnostic criterion |
| HP:0030880 | Raynaud phenomenon | |
| HP:0002322 | Resting tremor | |
| HP:0002063 | Rigidity | |
| HP:0010307 | Stridor | Diagnostic criterion |
Annotation source: 18725592[PMID]_14747001[PMID]_23758206[PMID]_14219099[PMID]_14446364[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/102
- This record as JSON: /data/d/102.json