ORPHA:275766
Idiopathic pulmonary arterial hypertension
Synonyms: IPAH · Primary pulmonary arterial hypertension
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic pulmonary arterial hypertension | IPAH · Primary pulmonary arterial hypertension |
| fr | Hypertension artérielle pulmonaire idiopathique | HTAPi · Hypertension artérielle pulmonaire primitive · IPAH |
| de | Pulmonale arterielle Hypertonie, idiopathische | IPAH · Primäre pulmonale arterielle Hypertension · Sporadische pulmonale arterielle Hypertension |
| es | Hipertensión arterial pulmonar idiopática | HAPI · Hipertensión arterial pulmonar primaria · IPAH |
| it | Ipertensione arteriosa polmonare idiopatica | IPAH · Ipertensione arteriosa polmonare primitiva |
| nl | Idiopathische pulmonale arteriële hypertensie | IPAH · Idiopathische hypertensie in longslagader · Primaire pulmonale arteriële hypertensie |
| pt | Hipertensão arterial pulmonar idiopática | |
| pl | Idiopatyczne tętnicze nadciśnienie płucne | IPAH · Pierwotne tętnicze nadciśnienie płucne |
| cs | Idiopatická plicní arteriální hypertenze | IPAH · Primární plicní arteriální hypertenze |
| uk | Ідіопатична легенева артеріальна гіпертензія | IPAH · Первинна легенева артеріальна гіпертензія |
| zh | 特发性肺动脉高压 | 原发性肺动脉高压 |
| tr | İdiyopatik pulmoner arteriyel hipertansiyon | IPAH · Primer pulmoner arteriyel hipertansiyon |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | I27.0 | NTBT | attributed | validated |
| ICD-11 | BB01.0 | NTBT | index | validated |
| MONDO | 0017147 | E | validated | |
| MONDO | 17147 | E | validated | |
| MONDO | 1999 | E | validated | |
| UMLS | C3203102 | E | validated | |
| MedDRA | 10065151 | 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 (1):
- ORPHA:422Idiopathic/heritable pulmonary arterial hypertension
rare genetic diseases; rare respiratory diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
16 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.59 / 100 000 | France | Value and class | Validated | 16456139[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | France | Value and class | Validated | 16456139[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.56 / 100 000 | Spain | Value and class | Validated | 22362843[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.12 / 100 000 | Spain | Value and class | Validated | 22362843[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.4 / 100 000 | Czech Republic | Value and class | Validated | 24629043[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.62 / 100 000 | Czech Republic | Value and class | Validated | 24629043[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.86 / 100 000 | Switzerland | Value and class | Validated | 18587690[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.12 / 100 000 | Switzerland | Value and class | Validated | 18587690[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.25 / 100 000 | United Kingdom | Value and class | Validated | 21885399[PMID]_17360728[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.7 / 100 000 | United Kingdom | Value and class | Validated | 21885399[PMID]_17360728[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.11 / 100 000 | United States | Value and class | Validated | 20558556[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.17 / 100 000 | Belgium | Value and class | Validated | 8692238[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.14 / 100 000 | Israel | Value and class | Validated | 11399707[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.8 / 100 000 | Israel | Value and class | Validated | 11399707[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.1 / 100 000 | Europe | Value and class | Validated | 16456139[PMID]_22362843[PMID]_18587690[PMID]_21885399[PMID]_17360728[PMID]_24629043[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.
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HPO phenotypes
18 annotations · validated 2016-12-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002094 | Dyspnea | |
| Very frequent (99-80%) | ||
| HP:3000042 | Abnormal jugular vein morphology | |
| HP:0004890 | Elevated pulmonary artery pressure | |
| HP:0005317 | Increased pulmonary vascular resistance | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001667 | Right ventricular hypertrophy | |
| Frequent (79-30%) | ||
| HP:0001785 | Ankle swelling | |
| HP:0100749 | Chest pain | |
| HP:0001635 | Congestive heart failure | |
| HP:0012098 | Edema of the dorsum of feet | |
| HP:0030148 | Heart murmur | |
| HP:0001279 | Syncope | |
| HP:0005180 | Tricuspid regurgitation | |
| Occasional (29-5%) | ||
| HP:0002105 | Hemoptysis | |
| HP:0001962 | Palpitations | |
| HP:0010741 | Pedal edema | |
| Excluded (0%) | ||
| HP:0003549 | Abnormality of connective tissue | |
| HP:0004870 | Chronic hemolytic anemia | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 13396080[PMID]_27888398[PMID]_27390285[PMID]_25469067[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/275766
- This record as JSON: /data/d/275766.json