Hyperinsulinism Due To Hnf1a Deficiency

Description

Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperinsulinism Due To Hnf1a Deficiency

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

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

Hyperinsulinism Due To Hnf1a Deficiency Is also known as hyperinsulinemic hypoglycemia due to hnf1a 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 Hnf1a Deficiency 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
100 %
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 %
HNF1A (MODY3) DNA Sequencing and Deletion Test.

By Athena Diagnostics Inc (United States).

HNF1A
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 %
Monogenic Diabetes (MODY) Three Gene Evaluation (GCK,HNF1A, HNF1B).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK
Specificity
34 %
Genes
100 %
Monogenic Diabetes (MODY) Two Gene Evaluation (GCK,HNF1A).

By Athena Diagnostics Inc (United States).

HNF1A, GCK
Specificity
50 %
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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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