Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency

Description

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting
  • Diarrhea
  • Hyperhidrosis
  • Pallor
  • Lethargy

And another 16 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

Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency Is also known as dominant katp hyperinsulinism due to kir6.2 deficiency, autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency.

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.

Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Hyperinsulinism Evaluation.

By Athena Diagnostics Inc (United States).

GCK, GLUD1, ABCC8, KCNJ11
Specificity
25 %
Genes
100 %
KCNJ11 (NDM) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

KCNJ11
Specificity
100 %
Genes
100 %
Neonatal Diabetes Mellitus Evaluation.

By Athena Diagnostics Inc (United States).

GCK, ABCC8, INS, PDX1, KCNJ11
Specificity
20 %
Genes
100 %
KCNJ11 (CH) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

KCNJ11
Specificity
100 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SIK1, SPTAN1, CDKL5, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, WWOX, CNTNAP2, CACNA2D1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

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

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
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 %

You can get up to 104 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

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