Catalog

Syndromic permanent neonatal diabetes mellitus

No MMS code

Link to WHO Definition

Syndromic permanent neonatal diabetes mellitus – http://id.who.int/icd/entity/1271599739

This is a form of monogenic diabetes is the neonatal diabetes caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 subunit of the beta cell KATP channel. This disease is considered to be a type of maturity onset diabetes of the young (MODY).