Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:1.10.3.1 (
tyrosinase
)
9,065
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disease caused by mutations in
NTRK1
gene (neurotrophic tyrosine kinase receptor 1) located in chromosome 1q21-22, encoding the
tyrosinase
domain receptor high affinity nerve growth factor. It is characterized by anhidrosis, insensitivity to painful stimuli and mental retardation. Given their low prevalence and the few reported cases, it is important to know its main features to be considered in the differential diagnosis in pediatric practice. We describe the clinical diagnosis, complications, sequelae and symptomatic treatment administered to a 3 years and 6 months old girl in the Hospital Asdrubal de la Torre, Cotacachi, Ecuador.
...
PMID:[Congenital insensitivity to pain with anhidrosis. Clinical diagnosis, evolution and complications: case report]. 2622 42
