ORPHA:227510
Multiple system atrophy, cerebellar type
Synonyms: Sporadic OPCA type 1 · Sporadic olivopontocerebellar atrophy type 1 · MSA, cerebellar type · MSA-c
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple system atrophy, cerebellar type | Sporadic OPCA type 1 · Sporadic olivopontocerebellar atrophy type 1 · MSA, cerebellar type · MSA-c |
| fr | Atrophie multisystématisée type cérébelleux | AMS type cérébelleux · AMS-c · AOPC sporadique type 1 · Atrophie multisystémique type cérébelleux · Atrophie olivopontocérébelleuse sporadique type 1 |
| de | Multisystematrophie, zerebellärer Typ | MSA, zerebelläre · MSA-C · OPCA · Olivopontozerebelläre Atrophie |
| es | Atrofia multisistémica tipo cerebeloso | AMS tipo cerebeloso · AMS-c · AOPC · Atrofia olivopontocerebelosa |
| it | Atrofia multisistemica, tipo cerebellare | Atrofia olivo-ponto-cerebellare · MSA, tipo cerebellare · MSA-c · OPCA |
| nl | Meervoudige systeematrofie, cerebellair type | MSA, cerebellair type · MSA-c · Sporadische OPCA type 1 · Sporadische olivopontocerebellaire atrofie type 1 |
| pt | Atrofia multissistémica, tipo cerebelosa | Atrofia olivo-ponto-cerebelosa tipo 1 · MSA, tipo cerebelosa · MSA-c · OPCA esporádica tipo 1 |
| pl | Zanik wieloukładowy, typ móżdżkowy | MSA, typ móżdżkowy · MSA-c · Sporadyczny OPCA typu 1 · Sporadyczny zanik oliwkowo-mostowo-móżdżkowy typu 1 |
| cs | Mnohočetná systémová atrofie, mozečkový typ | MSA, cerebelární typ · MSA-c · Sporadická OPCA, typ 1 · Sporadická olivopontocerebelární atrofie, typ 1 |
| uk | Розсіяна системна атрофія, мозочковий тип | MSA, мозочковий тип · MSA-c · Спорадична олівопонтоцеребеллярна атрофія типу 1 · Спорадичний тип OPCA 1 |
| zh | 多系统萎缩，小脑型 | 散发性橄榄-桥脑-小脑萎缩1型 |
| tr | Çoklu sistem atrofisi, serebellar tip | MSA-c · MSA, serebellar tip · Sporadik OPCA tip 1 · Sporadik olivopontoserebellar atrofi tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G23.3 | E | specific | validated |
| ICD-11 | 8D87.00 | E | specific | validated |
| MONDO | 0016418 | E | validated | |
| UMLS | C5554234 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:102Multiple system atrophy
rare neurological diseases - ORPHA:247239Non-hereditary degenerative ataxia
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COQ2 | Major susceptibility factor in | Assessed | HGNC:25223 | ENSG00000173085 | 609825 | 4q21.23 | coenzyme Q2, polyprenyltransferase | 23758206[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
35 annotations · validated 2018-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0012658 | Abnormal brain FDG positron emission tomography | |
| HP:0007256 | Abnormal pyramidal sign | Diagnostic criterion |
| HP:0002494 | Abnormal rapid eye movement sleep | |
| HP:0000739 | Anxiety | |
| HP:0005341 | Autonomic bladder dysfunction | Diagnostic criterion |
| HP:0008652 | Autonomic erectile dysfunction | |
| HP:0002530 | Axial dystonia | |
| HP:0002136 | Broad-based gait | |
| HP:0010536 | Central sleep apnea | |
| HP:0002019 | Constipation | |
| HP:0000716 | Depression | |
| HP:0010545 | Downbeat nystagmus | |
| HP:0001260 | Dysarthria | |
| HP:0001618 | Dysphonia | |
| HP:0030015 | Female anorgasmia | |
| HP:0002359 | Frequent falls | |
| HP:0002066 | Gait ataxia | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0002070 | Limb ataxia | |
| HP:0002068 | Neuromuscular dysphagia | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | Diagnostic criterion |
| HP:0012670 | Orthostatic syncope | |
| HP:0002172 | Postural instability | |
| HP:0002174 | Postural tremor | |
| HP:0002073 | Progressive cerebellar ataxia | Diagnostic criterion |
| HP:0030880 | Raynaud phenomenon | |
| HP:0010307 | Stridor | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0000741 | Apathy | |
| HP:0002067 | Bradykinesia | |
| HP:0100595 | Camptocormia | |
| HP:0001300 | Parkinsonism | Diagnostic criterion |
| HP:0002322 | Resting tremor | |
| HP:0002063 | Rigidity | |
Annotation source: 18725592[PMID]_14747001[PMID]_23758206[PMID]_14219099[PMID]_14446364[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/227510
- This record as JSON: /data/d/227510.json