ORPHA:422
Idiopathic/heritable pulmonary arterial hypertension
Synonyms: Idiopathic and/or familial pulmonary arterial hypertension
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- All ages
- Status
- active
A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic/heritable pulmonary arterial hypertension | Idiopathic and/or familial pulmonary arterial hypertension |
| fr | Hypertension artérielle pulmonaire idiopathique/familiale | Hypertension artérielle pulmonaire idiopathique et/ou familiale |
| de | Pulmonale arterielle Hypertonie, idiopathische/hereditäre | Pulmonal-arterielle Hypertonie, idiopathische/familiäre |
| es | Hipertensión arterial pulmonar idiopática/hereditaria | Hipertensión arterial pulmonar idiopática y/o familiar |
| it | Ipertensione arteriosa polmonare familiare e/o idiopatica | |
| nl | Idiopathische/erfelijke pulmonale arteriële hypertensie | |
| pt | Hipertensão arterial pulmonar idiopática/hereditária | Hipertensão arterial pulmonar idiopática e/ou familiar |
| pl | Idiopatyczne lub/i rodzinne tętnicze nadciśnienie płucne | = en |
| cs | Idiopatická a/nebo familiární plicní arteriální hypertenze | = en |
| uk | Ідіопатична/спадкова легенева артеріальна гіпертензія | Ідіопатична та/або сімейна легенева артеріальна гіпертензія |
| zh | 特发性/遗传性肺动脉高压 | 特发性和/或家族性肺动脉高压 |
| tr | İdiyopatik / kalıtsal pulmoner arteriyel hipertansiyon | İdiyopatik ve/veya ailesel pulmoner arteriyel hipertansiyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 178600 | E | validated | |
| OMIM | 265400 | BTNT | validated | |
| OMIM | 615342 | BTNT | validated | |
| OMIM | 615343 | BTNT | validated | |
| OMIM | 615344 | BTNT | validated | |
| ICD-10 | I27.0 | E | specific | validated |
| ICD-11 | BB01.0 | NTBT | attributed | validated |
| MONDO | 0008347 | E | validated | |
| UMLS | C5679820 | 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 (2):
- ORPHA:182090Pulmonary arterial hypertension
rare respiratory diseases; rare transplant-related disorders - ORPHA:156610Rare genetic respiratory disease
rare genetic diseases
4
Genes
0 direct · 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| ACVRL1 | ORPHA:275777Heritable pulmonary arterial hypertension | Candidate gene tested in | Not yet assessed | HGNC:175 | ENSG00000139567 | 601284 | 12q13.13 | activin A receptor like type 1 | 24951767[PMID]_24956016[PMID]_24936649[PMID]_22632830[PMID]_23298310[PMID] |
| ENG | ORPHA:275777Heritable pulmonary arterial hypertension | Candidate gene tested in | Not yet assessed | HGNC:3349 | ENSG00000106991 | 131195 | 9q34.11 | endoglin | 24951767[PMID]_15687131[PMID]_15115879[PMID]_23298310[PMID] |
| BMPR2 | ORPHA:275777Heritable pulmonary arterial hypertension | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1078 | ENSG00000204217 | 600799 | 2q33.1-q33.2 | bone morphogenetic protein receptor type 2 | 19555857[PMID]_20301658[PMID]_24951767[PMID] |
| EIF2AK4 | ORPHA:275777Heritable pulmonary arterial hypertension | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19687 | ENSG00000128829 | 609280 | 15q15.1 | eukaryotic translation initiation factor 2 alpha kinase 4 | 25512148[PMID] |
| KCNK3 | ORPHA:275777Heritable pulmonary arterial hypertension | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6278 | ENSG00000171303 | 603220 | 2p23.3 | potassium two pore domain channel subfamily K member 3 | 23883380[PMID]_24951767[PMID] |
| ATP13A3 | ORPHA:275777Heritable pulmonary arterial hypertension | Disease-causing germline mutation(s) in | Assessed | HGNC:24113 | ENSG00000133657 | 610232 | 3q29 | ATPase 13A3 | 34493544[PMID] |
| CAV1 | ORPHA:275777Heritable pulmonary arterial hypertension | Disease-causing germline mutation(s) in | Assessed | HGNC:1527 | ENSG00000105974 | 601047 | 7q31.2 | caveolin 1 | 22474227[PMID] |
| GDF2 | ORPHA:275777Heritable pulmonary arterial hypertension | Disease-causing germline mutation(s) in | Assessed | HGNC:4217 | ENSG00000263761 | 605120 | 10q11.22 | growth differentiation factor 2 | 37249087[PMID] |
| SMAD9 | ORPHA:275777Heritable pulmonary arterial hypertension | Disease-causing germline mutation(s) in | Assessed | HGNC:6774 | ENSG00000120693 | 603295 | 13q13.3 | SMAD family member 9 | 21920918[PMID] |
| TBX4 | ORPHA:275777Heritable pulmonary arterial hypertension | Disease-causing germline mutation(s) in | Assessed | HGNC:11603 | ENSG00000121075 | 601719 | 17q23.2 | T-box transcription factor 4 | 23502781[PMID]_23592887[PMID] |
| SOX17 | ORPHA:275777Heritable pulmonary arterial hypertension | Major susceptibility factor in | Assessed | HGNC:18122 | ENSG00000164736 | 610928 | 8q11.23 | SRY-box transcription factor 17 | 30029678[PMID] |
5
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.11 / 100 000 | United States | Value and class | Validated | 20558556[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.65 / 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 / 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 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | 16456139[PMID]_24629043[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.25 / 100 000 | China | Value and class | Validated | 34103049[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
13 annotations · validated 2017-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002092 | Pulmonary arterial hypertension | |
| Frequent (79-30%) | ||
| HP:0011025 | Abnormality of cardiovascular system physiology | |
| HP:0002094 | Dyspnea | |
| Occasional (29-5%) | ||
| HP:0100749 | Chest pain | |
| HP:0030848 | Elevated jugular venous pressure | |
| HP:0012378 | Fatigue | |
| HP:0030148 | Heart murmur | |
| HP:0002240 | Hepatomegaly | |
| HP:0001962 | Palpitations | |
| HP:0005133 | Right ventricular dilatation | |
| HP:0001279 | Syncope | |
| HP:0005180 | Tricuspid regurgitation | |
| Very rare (<4-1%) | ||
| HP:0010741 | Pedal edema | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301658[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/422
- This record as JSON: /data/d/422.json