Diabetes Mellitus, Transient Neonatal, 1 (TNDM1)

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OMIM 57 601410 MeSH 44 D003920

MedGen 42 C1832386 UMLS 72 C0342273 C1832386

OMIM : ⁵⁷ 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. (601410)

MalaCards based summary : Diabetes Mellitus, Transient Neonatal, 1, also known as 6q24-related diabetes mellitus, is related to neonatal diabetes mellitus and diabetes mellitus, 6q24-related transient neonatal. An important gene associated with Diabetes Mellitus, Transient Neonatal, 1 is ZFP57 (ZFP57 Zinc Finger Protein). Affiliated tissues include testes, and related phenotypes are dehydration and intrauterine growth retardation

UniProtKB/Swiss-Prot : ⁷⁴ Diabetes mellitus, transient neonatal, 1: An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month of life. 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.

Clinical features from OMIM:

601410

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Transient Neonatal, 1

Search GEO for disease gene expression data for Diabetes Mellitus, Transient Neonatal, 1.