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Heritable pulmonary arterial hypertension
7 associated genes
271 connected diseases
No signs/symptoms info
Disease Type of connection
Idiopathic pulmonary arterial hypertension
Hereditary hemorrhagic telangiectasia
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Pulmonary venoocclusive disease
17q23.1q23.2 microdeletion syndrome
Coxo-podo-patellar syndrome
Familial clubfoot due to 17q23.1q23.2 microduplication
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis / juvenile polyposis coli
Loeys-Dietz syndrome type 1
Brachydactyly type A2
Hereditary nonpolyposis colon cancer
Multiple keratoacanthoma, Ferguson-Smith type
Juvenile polyposis of infancy
Noonan syndrome
Precursor B-cell acute lymphoblastic leukemia
Brachydactyly type C
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Idiopathic hypereosinophilic syndrome
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Familial isolated dilated cardiomyopathy
Juvenile myelomonocytic leukemia
Hereditary mixed polyposis syndrome
Fibrodysplasia ossificans progressiva
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Amyotrophic lateral sclerosis
Familial pancreatic carcinoma
Myhre syndrome
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Idiopathic juvenile osteoporosis
Posterior polar cataract
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
12q14 microdeletion syndrome
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
X-linked lymphoproliferative disease
Leukoencephalopathy - dystonia - motor neuropathy
20p12.3 microdeletion syndrome
Estrogen resistance syndrome
Giant cell glioblastoma
Gliosarcoma
14q22q23 microdeletion syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Microphthalmia with brain and digit anomalies
Partial androgen insensitivity syndrome
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Angel-shaped phalango-epiphyseal dysplasia
Brachydactyly type A1
Camurati-Engelmann disease
Craniometaphyseal dysplasia
Cystic fibrosis
Familial cerebral saccular aneurysm
Fibular aplasia - complex brachydactyly
Gastrointestinal stromal tumor
Hypoplastic left heart syndrome
LEOPARD syndrome
Metachondromatosis
Multiple synostoses syndrome
Myeloid neoplasm associated with PDGFRA rearrangement
Oculodentodigital dysplasia
Proximal symphalangism
Syndactyly type 3
Hypotrichosis-deafness syndrome
KID syndrome
Keratoderma hereditarium mutilans
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Palmoplantar keratoderma-deafness syndrome
Porokeratotic eccrine ostial and dermal duct nevus
Marfan syndrome type 2
Adult-onset distal myopathy due to VCP mutation
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Spastic paraplegia - Paget disease of bone
Zonular cataract
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Hirschsprung disease
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Waardenburg-Shah syndrome
Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
Hereditary breast and ovarian cancer syndrome
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Williams syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2P
Colobomatous microphthalmia
Congenital stationary night blindness
Isolated Klippel-Feil syndrome
Leber congenital amaurosis
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Oguchi disease
Angelman syndrome
Atypical Gaucher disease due to saposin C deficiency
CLN11 disease
Encephalopathy due to prosaposin deficiency
Infantile Krabbe disease
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Autoimmune lymphoproliferative syndrome
Ewing sarcoma
Extraskeletal Ewing sarcoma
Familial medullary thyroid carcinoma
Genetic hyperferritinemia without iron overload
Hereditary hyperferritinemia with congenital cataracts
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Hyperinsulinism due to INSR deficiency
Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
Insulin-resistance syndrome type A
Isolated delta-storage pool disease
Juvenile rheumatoid factor-negative polyarthritis
Leprechaunism
Marinesco-Sjögren syndrome
Neuroferritinopathy
Neutral lipid storage myopathy
Oligoarticular juvenile arthritis
Papillary or follicular thyroid carcinoma
Paris-Trousseau thrombocytopenia
Peripheral primitive neuroectodermal tumor
Rabson-Mendenhall syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
X-linked Charcot-Marie-Tooth disease type 1
X-linked progressive cerebellar ataxia
Costello syndrome
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Miller-Dieker syndrome
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
22q11.2 deletion syndrome
6q25 microdeletion syndrome
Acrofacial dysostosis, Weyers type
Acroosteolysis dominant type
Action myoclonus - renal failure syndrome
Alagille syndrome due to a NOTCH2 point mutation
Alobar holoprosencephaly
Alpha-mannosidosis, adult form
Alpha-mannosidosis, infantile form
Aneurysm - osteoarthritis syndrome
Autosomal dominant osteopetrosis type 1
Autosomal dominant osteosclerosis, Worth type
Autosomal dominant progressive external ophthalmoplegia
Autosomal recessive epidermolysis bullosa simplex
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive primary microcephaly
Buschke-Ollendorff syndrome
CAMOS syndrome
Coffin-Siris syndrome
Dedifferentiated liposarcoma
Ellis Van Creveld syndrome
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Familial Alzheimer-like prion disease
Familial atrial fibrillation
Familial exudative vitreoretinopathy
Fatal familial insomnia
Fibronectin glomerulopathy
Gaucher disease type 1
Generalized epilepsy - paroxysmal dyskinesia
Gerstmann-Straussler-Scheinker syndrome
Glycogen storage disease due to liver phosphorylase kinase deficiency
Gorlin syndrome
Hereditary sensory and autonomic neuropathy type 6
Huntington disease-like 1
Hyperostosis corticalis generalisata
Infantile onset spinocerebellar ataxia
Inherited Creutzfeldt-Jakob disease
Intellectual deficit - sparse hair - brachydactyly
Intellectual deficit, X-linked, Turner type
Isolated osteopoikilosis
Kabuki syndrome
Lobar holoprosencephaly
Megalencephalic leukoencephalopathy with subcortical cysts
Melorheostosis with osteopoikilosis
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Monomelic amyotrophy
Monosomy 9q22.3
Mowat-Wilson syndrome due to a point mutation
Mowat-Wilson syndrome due to monosomy 2q22
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Osteoporosis - pseudoglioma
Osteosclerosis - developmental delay - craniosynostosis
Ovarian adenocarcinoma
Pediatric systemic lupus erythematosus
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Retinopathy of prematurity
Semilobar holoprosencephaly
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Septopreoptic holoprosencephaly
Syndromic diarrhea
Syndromic multisystem autoimmune disease due to Itch deficiency
Unverricht-Lundborg disease
Watson syndrome
Well-differentiated liposarcoma
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Familial capillary hemangioma
Retinitis pigmentosa
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Parkinsonian-pyramidal syndrome
Young adult-onset Parkinsonism
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Coppock-like cataract
Lymphangioleiomyomatosis
Nuclear cataract
Primary CD59 deficiency
Pulverulent cataract
Tuberous sclerosis
Autosomal dominant hypohidrotic ectodermal dysplasia
Chronic intestinal pseudoobstruction
Chronic myeloid leukemia
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Hereditary gingival fibromatosis
Hyper-IgM syndrome type 3
Nodulosis-arthropathy-osteolysis syndrome
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Precursor T-cell acute lymphoblastic leukemia
Spinocerebellar ataxia type 36
Terminal osseous dysplasia - pigmentary defects
Torg-Winchester syndrome
Autosomal dominant nonsyndromic intellectual deficit
Chronic granulomatous disease
Craniopharyngioma
Desmoid tumor
Generalized congenital lipodystrophy with myopathy
Hepatocellular carcinoma, childhood-onset
Intermittent hydrarthrosis
Pilomatrixoma
TRAPS syndrome
WHIM syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.