Pure autonomic failure
Synonyms: Bradbury-Eggleston syndrome · Idiopathic orthostatic hypotension · PAF · Pure dysautonomia · Pure idiopatic dysautonomia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare sporadic neurodegenerative disease characterized by slowly progressive symptoms of orthostatic hypotension (OH), and other symptoms of generalised dysautonomia related to the impairment of the sympathetic component of the autonomic nervous system.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pure autonomic failure | Bradbury-Eggleston syndrome · Idiopathic orthostatic hypotension · PAF · Pure dysautonomia · Pure idiopatic dysautonomia |
| fr | Hypotension orthostatique idiopathique | Dysautonomie pure · Dysautonomie pure idiopathique · Dysautonomie pure primitive · Insuffisance autonome progressive · Syndrome de Bradbury-Eggleston |
| de | Dysautonomie, reine | Bradbury-Eggleston-Syndrom · Hypotension, idiopathische orthostatische · Orthostatischen Hypotension, idiopathische · PAF |
| es | Fallo autonómico puro | FAP · Hipotensión ortostática idiopática · Síndrome de Bradbury-Eggleston · Disautonomía pura |
| it | Insufficienza pura del sistema autonomo | Disautonomia pura · Ipotensione ortostatica idiopatica · PAF · Sindrome di Bradbury-Eggleston |
| nl | Puur autonoom falen | Idiopathische orthostatische hypotensie · PAF · Pure dysautonomie · Pure idiopathische dysautonomie · Syndroom van Bradbury-Eggleston |
| pt | Falência autonómica pura | FAP · PAF |
| pl | Czysta niewydolność autonomiczna | Czysta dysautonomia · Czysta idiopatyczna dysautonomia · Idiopatyczna hipotensja ortostatyczna · PAF · Zespół Bradbury i Egglestona |
| cs | Idiopatická ortostatická hypotenze | Bradburyho-Egglestonuv syndrom · PAF · Bradburyho-Egglestonův syndrom · Čisté autonomní selhání · Čistá dysautonomie · Čistá idiopatická dysautonomie · Bradbury-Egglestonův syndrom |
| uk | Чиста вегетативна недостатність | Синдром Бредбері-Егглстона · Ідіопатична ортостатична гіпотензія · PAF · Чиста дисавтономія · Чиста ідіопатична дисавтономія |
| zh | 单纯性自主神经衰竭 | 特发性直立性低血压 |
| tr | Saf otonom yetersizlik | PAF · Saf disotonomi · Bradbury-Eggleston sendromu · Saf idiyopatik disotonomi · İdiyopatik ortostatik hipotansiyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G90.8 | NTBT | attributed | validated |
| ICD-11 | 8D84 | E | specific | validated |
| MONDO | 0018608 | E | validated | |
| MeSH | D054970 | E | validated | |
| UMLS | C0393911 | E | validated | |
| GARD | 10428 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:182058Primary orthostatic hypotension
rare neurological diseases - ORPHA:423662Rare autonomic nervous system disorder
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | European Medicines Agency 2007[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
10 annotations · validated 2017-10-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0012099 | Abnormality of circulating catecholamine level | |
| HP:0000970 | Anhidrosis | |
| HP:0025142 | Constitutional symptom | |
| HP:0001278 | Orthostatic hypotension | |
| Frequent (79-30%) | ||
| HP:0002019 | Constipation | |
| HP:0100518 | Dysuria | |
| HP:0001279 | Syncope | |
| HP:0000020 | Urinary incontinence | |
| Occasional (29-5%) | ||
| HP:0000802 | Impotence | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 15965200[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/441
- This record as JSON: /data/d/441.json