Preferred Label : Diabetes mellitus, transient neonatal, 1;
Symbol : TNDM1;
CISMeF acronym : DMTN; TNDM; TNDM1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : TNDM; DMTN; 6q24-related diabetes mellitus;
Description : Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within
the first month 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 and
resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes
(606176). In a significant number of patients with transient neonatal diabetes mellitus,
type II diabetes appears later in life (Arthur et al., 1997). The major cause of transient
neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24,
associated in 20% of cases with DNA hypomethylation at the TND differentially methylated
region (DMR), which lies within the imprinted promoter of the PLAGL1 gene (603044;
Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24
also show mosaic DNA hypomethylation at other imprinted loci throughout the genome
and a range of additional clinical features. Mackay et al. (2008) found that mutations
in the ZFP57 gene are associated with TND with hypomethylation of the TND DMR as well
as hypomethylation of the PEG3 (601483) and GRB10 (601523) DMRs, and heterogeneous
clinical features.;
Inheritance : Autosomal dominant (loss of maternal allele);
Molecular basis : Caused by loss of maternal allele at 6q24; Caused by mutation in the homolog of the mouse zinc finger protein 57 gene (ZFP57,
612192.0001);
Laboratory abnormalities : Hyperglycemia;
Prefixed ID : #601410;
Origin ID : 601410;
UMLS CUI : C1832386;
Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
