Permanent Neonatal Diabetes Mellitus

Description

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

Clinical Features

Top most frequent phenotypes and symptoms related to Permanent Neonatal Diabetes Mellitus

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia
  • Motor delay
  • Intrauterine growth retardation
  • Intellectual disability, severe
  • Abnormal heart morphology

And another 25 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available PERMANENT NEONATAL DIABETES MELLITUS have a estimated birth prevalence of 0.38 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Permanent Neonatal Diabetes Mellitus Is also known as monogenic diabetes of infancy, pndm.

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.


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Permanent Neonatal Diabetes Mellitus Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
34 %
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
17 %
Hyper IgE Syndrome (HIES): STAT3 (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

STAT3
Specificity
100 %
Genes
17 %
Hyper IgE Syndrome (HIES): STAT3 (known mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

STAT3
Specificity
100 %
Genes
17 %
STAT3 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

STAT3
Specificity
100 %
Genes
17 %
STAT3 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

STAT3
Specificity
100 %
Genes
17 %
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
15 %
Genes
100 %
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
15 %
Genes
100 %

We have 335 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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