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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary hyperferritinemia with congenital cataracts
1 OMIM reference -
1 associated gene
2 signs/symptoms
Heritable pulmonary arterial hypertension
Hereditary hyperferritinemia with congenital cataracts

ACVRL1
(UniProt - OMIM)
 FTL
(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)
SMAD9
(0.73)
FTL


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
Hereditary hyperferritinemia with congenital cataracts
FTL



Heritable pulmonary arterial hypertension
Hereditary hyperferritinemia with congenital cataracts

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- Bonneau-Beaumont syndrome
- HHCS
- Hereditary hyperferritinemia-cataract syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Diseases of the eye and adnexa -
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: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538137
Hereditary hyperferritinemia with congenital cataracts

Very frequent
- Cataract / lens opacification
- Metabolic anomalies



Heritable pulmonary arterial hypertension

(no data available)