Diabetes Mellitus, Transient Neonatal, 1

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 (OMIM ). 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. Genetic Heterogeneity of Transient Neonatal DiabetesTNDM2 (OMIM ) is caused by mutation in the ABCC8 gene (OMIM ) on chromosome 11p15.1. TNDM3 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), also located on 11p15.1.

Clinical Features

Top most frequent phenotypes and symptoms related to Diabetes Mellitus, Transient Neonatal, 1

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Intrauterine growth retardation
  • Talipes equinovarus
  • Diabetes mellitus
  • Small for gestational age
  • Macroglossia
  • Overgrowth
  • Dehydration

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Diabetes Mellitus, Transient Neonatal, 1 Is also known as tndm1, dmtn, tndm.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Diabetes Mellitus, Transient Neonatal, 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Comprehensive Neonatal Diabetes Mutation Analysis.

By Genetic Services Laboratory University of Chicago (United States).

ZFP57, EIF2AK3, GATA4, GATA6, GCK, MNX1, HYMAI, ABCC8, INS, FOXP3, PDX1, KCNJ11, NKX2-2, PLAGL1
Specificity
15 %
Genes
100 %
Neonatal Diabetes Mellitus Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago (United States).

ZFP57, EIF2AK3, GCK, ABCC8, INS, FOXP3, PDX1, KCNJ11
Specificity
13 %
Genes
50 %
Neonatal Diabetes Mellitus Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZFP57, EIF2AK3, GATA4, GATA6, GCK, MNX1, ABCC8, INS, FOXP3, PDX1, KCNJ11, NKX2-2
Specificity
9 %
Genes
50 %
ZFP57. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ZFP57
Specificity
100 %
Genes
50 %
MODY ZFP57 related (sequence analysis of ZFP57 gene).

By CGC Genetics (Portugal).

ZFP57
Specificity
100 %
Genes
50 %
Transient neonatal diabetes mellitus 1.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

ZFP57
Specificity
100 %
Genes
50 %

You can get up to 18 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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