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

NTRK1 ACVRL1
BMPR2
CAV1
CBLN2
KCNK3
SMAD9
TBX4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NTRK1
(0.73)
CAV1



Citations in the biomedical literature:


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



Hereditary sensory and autonomic neuropathy type 4
Heritable pulmonary arterial hypertension

Synonym(s):
- HSAN4
- Insensitivity to pain - anhidrosis
- NHSA4

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
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)