Preferred Label : Diabetes mellitus, permanent neonatal, 1;
Symbol : PNDM1;
CISMeF acronym : PDMI; PNDM; PNDM1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Diabetes mellitus, permanent, of infancy; PDMI;
Description : Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within
the first 3 months of life, is a rare entity, with an estimated incidence of 1 in
400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient
(see 601410) and resolves at a median age of 3 months, whereas the rest have a permanent
insulin-dependent form of diabetes (PNDM). In a significant number of patients with
transient neonatal diabetes mellitus, type II diabetes (see 125853) appears later
in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes
mellitus type I (IDDM; 222100). Massa et al. (2005) noted that the diagnostic time
limit for PNDM has changed over the years, ranging from onset within 30 days of birth
to 3 months of age. However, as patients with the clinical phenotype caused by mutation
in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et
al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI)
replace PNDM as a more accurate description, and include those who present up to 6
months of age. The authors suggested that the new acronym be linked to the gene product
(e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune
type I diabetes. Colombo et al. (2008) proposed that, because individuals with INS
gene mutations may present with diabetes well beyond 6 months of age and cannot be
distinguished from patients with type 1 diabetes except for the absence of type 1
diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes
of infancy (MDI),' a broad definition including any form of diabetes, permanent or
transient, with onset during the first years of life and caused by a single gene defect.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the glucokinase gene (GCK, 138079.0010);
Laboratory abnormalities : Hyperglycemia; Low-undetectable glucagon-stimulated serum C-peptide; Normal plasma glucagon; Negative glutamic acid decarboxylase autoantibodies; Elevated hemoglobin A1C; Low-undetectable basal serum C-peptide; Negative insulin autoantibodies;
Prefixed ID : #606176;
Origin ID : 606176;
UMLS CUI : C5393570;
Automatic exact mappings (from CISMeF team)
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
