Hyperinsulinism Due To Hnf4a Deficiency

Description

Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperinsulinism Due To Hnf4a Deficiency

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue
  • Vomiting
  • Diarrhea
  • Hyperhidrosis
  • Neonatal hypotonia
  • Elevated hepatic transaminase

And another 23 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

Hyperinsulinism Due To Hnf4a Deficiency Is also known as hyperinsulinemic hypoglycemia due to hnf4a 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.


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Hyperinsulinism Due To Hnf4a Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Monogenic Diabetes (MODY) Five Gene Evaluation (GCK,HNF1A,HNF1B,HNF4A,IPF1).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK, HNF4A, PDX1
Specificity
20 %
Genes
100 %
HNF4A (MODY1) Sequencing and Deletion Test.

By Athena Diagnostics Inc (United States).

HNF4A
Specificity
100 %
Genes
100 %
Monogenic Diabetes (MODY) Four Gene Evaluation (GCK,HNF1A, HNF1B, HNF4A).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK, HNF4A
Specificity
25 %
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 %
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 %
Comprehensive Familial Hyperinsulinism Panel.

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

SLC16A1, HNF1A, UCP2, KDM6A, GCK, GLUD1, HADH, HNF4A, ABCC8, INSR, KCNJ11, KMT2D, PGM1, PMM2
Specificity
8 %
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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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