Diabetes Mellitus, Ketosis-prone; Kpd

Description

In addition to classic type 1 (see {222100}) and type 2 (see {125853}) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable (Sobngwi et al., 2002).

Clinical Features

Top most frequent phenotypes and symptoms related to Diabetes Mellitus, Ketosis-prone; Kpd

  • Diabetes mellitus
  • Weight loss
  • Autoimmunity
  • Type II diabetes mellitus
  • Insulin resistance
  • Type I diabetes mellitus
  • Polydipsia
  • Hyperglycemia
  • Polyuria
  • Ketosis

And another 3 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.

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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Diabetes Mellitus, Ketosis-prone; Kpd Recommended genes panels

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

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Maturity-onset Diabetes of the Young Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

BLK, HNF1A, HNF1B, KLF11, CEL, AKT2, GCK, HNF4A, ABCC8, INS, INSR, PDX1, KCNJ11, NEUROD1, PAX4
Specificity
7 %
Genes
100 %
MODY Deletion/Duplication Panel.

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

BLK, HNF1A, HNF1B, KLF11, CEL, APPL1, GCK, HNF4A, ABCC8, INS, PDX1, KCNJ11, NEUROD1, PAX4
Specificity
8 %
Genes
100 %
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
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
3 %
Genes
100 %
MODY Panel.

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

BLK, HNF1A, HNF1B, KLF11, CEL, APPL1, GCK, HNF4A, ABCC8, INS, PDX1, KCNJ11, NEUROD1, PAX4
Specificity
8 %
Genes
100 %
MODY 9 (sequence analysis of PAX4 gene).

By CGC Genetics (Portugal).

PAX4
Specificity
100 %
Genes
100 %
MODY (NGS panel for 13 genes).

By CGC Genetics (Portugal).

BLK, HNF1A, HNF1B, KLF11, CEL, GCK, HNF4A, ABCC8, INS, PDX1, KCNJ11, NEUROD1, PAX4
Specificity
8 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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