ORPHA:275777
Heritable pulmonary arterial hypertension
Synonyms: FPAH · Familial pulmonary arterial hypertension · HPAH · Hereditary pulmonary arterial hypertension
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Heritable pulmonary arterial hypertension | FPAH · Familial pulmonary arterial hypertension · HPAH · Hereditary pulmonary arterial hypertension |
| fr | Hypertension artérielle pulmonaire héréditaire | FPAH · HPAH · Hypertension artérielle pulmonaire familiale |
| de | Pulmonale arterielle Hypertonie, hereditäre | FPAH · Pulmonale arterielle Hypertonie, familiäre |
| es | Hipertensión arterial pulmonar hereditaria | FPAH · HAPH · Hipertensión arterial pulmonar familiar |
| it | Ipertensione arteriosa polmonare ereditaria | FPAH · Ipertensione arteriosa polmonare ereditaria · Ipertensione arteriosa polmonare familiare |
| nl | Hereditaire pulmonale arteriële hypertensie | Erfelijke hypertensie in longslagader · FPAH · Familiale pulmonale arteriële hypertensie · HPAH |
| pt | Hipertensão arterial pulmonar hereditária | |
| pl | Dziedziczne tętnicze nadciśnienie płucne | FPAH · Hereditary pulmonary arterial hypertension · Rodzinne tętnicze nadciśnienie płucne |
| cs | Dědičná forma plicní arteriální hypertenze | FPAH · Familiární plicní arteriální hypertenze · HPAH |
| uk | Спадкова легенева артеріальна гіпертензія | Сімейна легенева артеріальна гіпертензія · FPAH · Спадкова легенева артеріальна гіпертензія · HPAH |
| zh | 遗传性肺动脉高压 | 遗传性肺动脉高压 |
| tr | Kalıtsal pulmoner arteriyel hipertansiyon | FPAH · HPAH · Ailesel pulmoner arteriyel hipertansiyon · Kalıtsal pulmoner arteriyel hipertansiyon |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 178600 | NTBT | validated | |
| OMIM | 615342 | BTNT | validated | |
| ICD-10 | I27.0 | NTBT | attributed | validated |
| ICD-11 | BB01.0 | NTBT | index | validated |
| MONDO | 0017148 | E | validated | |
| UMLS | C0340543 | E | validated | |
| MedDRA | 10085244 | 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
11 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACVRL1 | 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 | Candidate gene tested in | Not yet assessed | HGNC:3349 | ENSG00000106991 | 131195 | 9q34.11 | endoglin | 24951767[PMID]_15687131[PMID]_15115879[PMID]_23298310[PMID] |
| BMPR2 | 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 | 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 | 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 | Disease-causing germline mutation(s) in | Assessed | HGNC:24113 | ENSG00000133657 | 610232 | 3q29 | ATPase 13A3 | 34493544[PMID] |
| CAV1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1527 | ENSG00000105974 | 601047 | 7q31.2 | caveolin 1 | 22474227[PMID] |
| GDF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4217 | ENSG00000263761 | 605120 | 10q11.22 | growth differentiation factor 2 | 37249087[PMID] |
| SMAD9 | Disease-causing germline mutation(s) in | Assessed | HGNC:6774 | ENSG00000120693 | 603295 | 13q13.3 | SMAD family member 9 | 21920918[PMID] |
| TBX4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11603 | ENSG00000121075 | 601719 | 17q23.2 | T-box transcription factor 4 | 23502781[PMID]_23592887[PMID] |
| SOX17 | Major susceptibility factor in | Assessed | HGNC:18122 | ENSG00000164736 | 610928 | 8q11.23 | SRY-box transcription factor 17 | 30029678[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.08 / 100 000 | Europe | Value and class | Validated | 16456139[PMID]_ORPHANET |
| Point prevalence | <1 / 1 000 000 | 0.08 / 100 000 | France | Value and class | Validated | 16456139[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.8 / 100 000 | Czech Republic | Value and class | Validated | 24629043[PMID]_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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/275777
- This record as JSON: /data/d/275777.json