Cytoscape Web
Click node...

Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Lhermitte-Duclos disease
1 OMIM reference -
1 associated gene
12 signs/symptoms
Heritable pulmonary arterial hypertension
Lhermitte-Duclos disease

ACVRL1
(UniProt - OMIM)
 PTEN
(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
(0.78)
PTEN


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
Lhermitte-Duclos disease
PTEN



Heritable pulmonary arterial hypertension
Lhermitte-Duclos disease

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- Dysplastic gangliocytoma of the cerebellum
- LDD
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: adulthood
Average age of death: -
Type of inheritance: unknown
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Lhermitte-Duclos disease

Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Ataxia / incoordination / trouble of the equilibrium
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cranial nerves palsy
- Facial pain / cephalalgia / migraine
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Upper limb polydactyly / hexadactyly

Occasional
- Tall stature / gigantism / growth acceleration


Heritable pulmonary arterial hypertension

(no data available)