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1 OMIM reference -
1 associated gene
9 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hereditary sensory and autonomic neuropathy type 4
Distal 16p11.2 microdeletion syndrome

NTRK1 SH2B1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NTRK1
(0.86)
SH2B1



Citations in the biomedical literature:


Hereditary sensory and autonomic neuropathy type 4
NTRK1
Distal 16p11.2 microdeletion syndrome
SH2B1



Hereditary sensory and autonomic neuropathy type 4
Distal 16p11.2 microdeletion syndrome

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

Synonym(s):
- Distal del(16)(p11.2)
- Distal monosomy 16p11.2

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- 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:
(no data available)

External references:
1 OMIM reference -
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


Distal 16p11.2 microdeletion syndrome

(no data available)