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1 OMIM reference -
1 associated gene
9 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Hereditary sensory and autonomic neuropathy type 4
Metachondromatosis

NTRK1 PTPN11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NTRK1
(0.52)
PTPN11



Citations in the biomedical literature:


Hereditary sensory and autonomic neuropathy type 4
NTRK1
Metachondromatosis
PTPN11



Hereditary sensory and autonomic neuropathy type 4
Metachondromatosis

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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

Hereditary sensory and autonomic neuropathy type 4
Metachondromatosis

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


Very frequent
- Autosomal dominant inheritance
- Bone pain
- Cranial nerves palsy
- Enchondroses
- Epiphyseal anomaly
- Exostoses
- Metaphyseal anomaly
- Osteonecrosis / bone infarction
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Periarticular tissue anomaly / extraarticular calcifications