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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Encephalopathy due to prosaposin deficiency
1 OMIM reference -
1 associated gene
11 signs/symptoms
Heritable pulmonary arterial hypertension
Encephalopathy due to prosaposin deficiency

ACVRL1
(UniProt - OMIM)
 PSAP
(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
(0.74)
PSAP


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
Encephalopathy due to prosaposin deficiency
PSAP



Heritable pulmonary arterial hypertension
Encephalopathy due to prosaposin deficiency

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- Combined prosaposin deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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
Encephalopathy due to prosaposin deficiency

Very frequent
- Abnormal eye movements / oculomotor disorder
- Autosomal recessive inheritance
- Death in infancy
- Dystonia / torticollis / writer's cramp / blepharospasms
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Myoclonus / fasciculations
- Repeat respiratory infections
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly



Heritable pulmonary arterial hypertension

(no data available)