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1 OMIM reference -
1 associated gene
9 signs/symptoms
PROTEIN INTERACTIONS: 1
6 OMIM references -
6 associated genes
3 signs/symptoms
Hereditary sensory and autonomic neuropathy type 4
Neuroblastoma

NTRK1 ALK
HACE1
LIN28B
MYCN
PHOX2B
TOP2A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NTRK1
(0.63)
MYCN



Citations in the biomedical literature:


Hereditary sensory and autonomic neuropathy type 4
NTRK1
Neuroblastoma
ALK HACE1 LIN28B MYCN PHOX2B TOP2A



Hereditary sensory and autonomic neuropathy type 4
Neuroblastoma

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

Synonym(s):
- Neural crest tumor
- Sympathoblastoma

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

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

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: 1-5 / 10 000
Average age onset: childhood
Average age of death: child / adolescent
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
2 MeSH references: C536408 / D009447

Hereditary sensory and autonomic neuropathy type 4
Neuroblastoma

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
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Organic acid metabolism anomalies

Frequent
- Autosomal dominant inheritance