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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Syndromic multisystem autoimmune disease due to Itch deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Heritable pulmonary arterial hypertension
Syndromic multisystem autoimmune disease due to Itch deficiency

ACVRL1
(UniProt - OMIM)
 ITCH
(UniProt - OMIM)
BMPR2
(UniProt - OMIM)
CAV1
(UniProt - OMIM)
CBLN2
(UniProt - OMIM)
KCNK3
(UniProt - OMIM)
SMAD9
(UniProt - OMIM)
TBX4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CAV1
(0.63)
ITCH


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
Syndromic multisystem autoimmune disease due to Itch deficiency
ITCH



Heritable pulmonary arterial hypertension
Syndromic multisystem autoimmune disease due to Itch deficiency

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare immune disease
- Rare neurologic disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.