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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary sensory and autonomic neuropathy type 5
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

NGF SH2B1
NTRK1


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 5
NGF NTRK1
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
SH2B1



Hereditary sensory and autonomic neuropathy type 5
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Synonym(s):
- Congenital insensitivity to pain and thermal analgesia
- HSAN5
- NHSA5

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
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: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D000699
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.