ORPHA:275798

Pulmonary arterial hypertension associated with connective tissue disease

Synonyms: PAH associated with connective tissue disease

Type: Clinical group
Group: Group of disorders
Inheritance: Not applicable
Age of onset: All ages
Status: active

A form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Pulmonary arterial hypertension associated with connective tissue disease	PAH associated with connective tissue disease
fr	Hypertension artérielle pulmonaire associée à une connectivite	HTAP associée à une connectivite
de	Pulmonale arterielle Hypertonie mit assoziierter Bindegewebskrankheit	PAH mit assoziierter Bindegewebskrankheit
es	Hipertensión arterial pulmonar asociada a enfermedad del tejido conectivo	HAP asociada a enfermedad del tejido conectivo
it	Ipertensione arteriosa polmonare associata a malattia del tessuto connettivo	PAH associata a malattia del tessuto connettivo
nl	Pulmonale arteriële hypertensie geassocieerd met bindweefselziekte	PAH geassocieerd met bindweefselziekte
pt	Hipertensão arterial pulmonar associada a doença do tecido conjuntivo
pl	Tętnicze nadciśnienie płucne związane z chorobą tkanki łącznej	PAH związane z chorobą tkanki łącznej
cs	Plicní arteriální hypertenze asociovaná s nemocí pojiva	PAH asociovaná s nemocí pojiva
uk	Легенева артеріальна гіпертензія, асоційована із захворюванням сполучної тканини	ЛАГ, повязана із захворюваннями сполучної тканини
zh	结缔组织病相关肺动脉高压	结缔组织病相关PAH
tr	Bağ dokusu hastalığı ilişkili pulmoner arteriyel hipertansiyon	Bağ dokusu hastalığı ile ilişkili PAH

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	17151	E		validated
UMLS	C3697982	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):

ORPHA:97955Rare respiratory disease

Parents in the classifications (1):

ORPHA:275791Pulmonary arterial hypertension associated with another disease
rare respiratory diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
HLA-B	Major susceptibility factor in	Not yet assessed	HGNC:4932	ENSG00000234745	142830	6p21.33	major histocompatibility complex, class I, B

Prevalence and incidence

8 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	0.23 / 100 000	France	Value and class	Validated	16456139[PMID]
Annual incidence	<1 / 1 000 000	0.036 / 100 000	France	Value and class	Validated	16456139[PMID]
Point prevalence	1-9 / 1 000 000	0.25 / 100 000	Spain	Value and class	Validated	22362843[PMID]
Point prevalence	1-9 / 100 000	1.25 / 100 000	United Kingdom	Value and class	Validated	21885399[PMID]_17360728[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 / 1 000 000	0.25 / 100 000	Czech Republic	Value and class	Validated	24629043[PMID]
Annual incidence	1-9 / 1 000 000	0.12 / 100 000	Czech Republic	Value and class	Validated	24629043[PMID]
Point prevalence	1-9 / 1 000 000	0.25 / 100 000	Europe	Value and class	Validated	24629043[PMID]_22362843[PMID]_16456139[PMID]_21885399[PMID]_17360728[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.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/275798
This record as JSON: /data/d/275798.json