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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary sensory and autonomic neuropathy type 4
1 OMIM reference -
1 associated gene
9 signs/symptoms
Heritable pulmonary arterial hypertension
Hereditary sensory and autonomic neuropathy type 4

ACVRL1
(UniProt - OMIM)
 NTRK1
(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
(0.73)
NTRK1


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
Hereditary sensory and autonomic neuropathy type 4
NTRK1



Heritable pulmonary arterial hypertension
Hereditary sensory and autonomic neuropathy type 4

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- HSAN4
- Insensitivity to pain - anhidrosis
- NHSA4
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Diseases of the nervous system -
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: unknown
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
Hereditary sensory and autonomic neuropathy type 4

Very frequent
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Insensitivity to pain
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Osteosclerosis / osteopetrosis / bone condensation
- Psychic / behavioural troubles

Occasional
- Dental staining anomaly / spotted teeth / erythrodontia
- Thick skin / pachydermia / orange skin
- Tight skin / lack of elasticity


Heritable pulmonary arterial hypertension

(no data available)