" /> Neuropathy, Hereditary Sensory and Autonomic, Type I - CISMeF





Preferred Label : Neuropathy, Hereditary Sensory and Autonomic, Type I;

NCIt synonyms : Hereditary Sensory and Autonomic Neuropathy Type 1; HSAN1;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SPTLC1 gene, encoding serine palmitoyltransferase long chain base subunit 1. It is characterized by distal sensory impairment with variable autonomic and motor involvement.;

Détails


Vous pouvez consulter :


Nous contacter.
30/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.