Hyperinsulinemic Hypoglycemia, Familial, 5; Hhf5

Description

Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperinsulinemic Hypoglycemia, Familial, 5; Hhf5

  • Seizures
  • Coma
  • Fatigue
  • Hypoglycemia
  • Hirsutism
  • Insulin resistance
  • Hyperinsulinemia
  • Polycystic ovaries
  • Ovarian cyst
  • Blurred vision
And another 7 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Hyperinsulinemic Hypoglycemia, Familial, 5; Hhf5 Recommended genes panels

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

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

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, AKT2, PAX4, KLF11, BLK, INSR
Specificity
7 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

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 in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
INSR deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

INSR
Specificity
100 %
Genes
100 %
INSR sequencing.

By Genetic Services Laboratory University of Chicago in United States.

INSR
Specificity
100 %
Genes
100 %
Comprehensive Familial Hyperinsulinism Panel.

By Genetic Services Laboratory University of Chicago in United States.

HNF1A, SLC16A1, GCK, PGM1, UCP2, GLUD1, PMM2, ABCC8, KCNJ11, HNF4A, KMT2D, KDM6A, HADH, INSR
Specificity
8 %
Genes
100 %
Inherited Insulin Resistance Syndromes (INSR) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

INSR
Specificity
100 %
Genes
100 %
INSR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

INSR
Specificity
100 %
Genes
100 %
Donohue Syndrome (sequence analysis of INSR gene).

By CGC Genetics in Portugal.

INSR
Specificity
100 %
Genes
100 %
Diabetes mellitus and acanthosis nigricans (sequence analysis of INSR gene).

By CGC Genetics in Portugal.

INSR
Specificity
100 %
Genes
100 %
Familial hyperinsulinism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
12 %
Genes
100 %
Familial hyperinsulinism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
12 %
Genes
100 %
Insulin-resistant diabetes mellitus AND acanthosis nigricans.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

INSR
Specificity
100 %
Genes
100 %
Leprechaunism syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

INSR
Specificity
100 %
Genes
100 %
Pineal hyperplasia AND diabetes mellitus syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

INSR
Specificity
100 %
Genes
100 %
INSR.

By Department of Clinical Genetics Odense University Hospital in Denmark.

INSR
Specificity
100 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Diabetes mellitus insulin-resistant with acanthosis nigricans.

By Centogene AG - the Rare Disease Company in Germany.

INSR
Specificity
100 %
Genes
100 %
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans.

By Cambridge University Hospitals NHS Genetics Laboratory Cambridge University Hospitals NHS Foundation Trust in United Kingdom.

INSR
Specificity
100 %
Genes
100 %
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

INSR
Specificity
100 %
Genes
100 %
Mixed hyperlipidemias.

By Health in Code in Spain.

PPARG, CAVIN1, LEP, LMNA, BSCL2, CAV1, ZMPSTE24, AKT2, INSR, CIDEC, PLIN1, AGPAT2, INSIG2
Specificity
8 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Hyperinsulinemic Hypoglycemia, Familial, 5, HHF5: INSR gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

INSR
Specificity
100 %
Genes
100 %
FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HNF1A, SLC16A1, GCK, UCP2, GLUD1, OTC, SLC25A15, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
9 %
Genes
100 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PITX2, RAF1, SOX2, HESX1, BLM, CREBBP, DHCR7, KRAS, PTPN11, SOS1, SMC3, SMC1A, NIPBL, NBN, PROP1, BTK, GHRHR, SHOX, POU1F1, GH1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Hyperinsulinism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, HADH, INSR
Specificity
10 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
MODY Neonatal Diabetes NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HNF1A, NEUROD1, HNF1B, WFS1, GCK, GLUD1, CISD2, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, CP, IER3IP1, HADH, SLC2A2, AKT2, RFX6 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
INSR.

By Fulgent Genetics Fulgent Genetics in United States.

INSR
Specificity
100 %
Genes
100 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Comprehensive Monogenic Diabetes Panel.

By Blueprint Genetics in Finland.

HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, RFX6, PAX4, KLF11 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel.

By Blueprint Genetics in Finland.

AGL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, GAA, HNF1A, SLC37A4, SLC16A1, GCK, ACSF3, PHKA2, HMGCL, PYGL, G6PC, PHKG2, PGM1, LDHA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Donohue syndrome.

By Bioarray in Spain.

INSR
Specificity
100 %
Genes
100 %
Familial Hyperinsulinism NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HNF1A, SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
10 %
Genes
100 %
INSR Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

INSR
Specificity
100 %
Genes
100 %
Monogenic Diabetes NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, PAX4, KLF11 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
DIABETES MELLITUS, INSULIN-RESISTANT.

By Laboratorio de Genetica Clinica SL in Spain.

INSR
Specificity
100 %
Genes
100 %
FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM).

By Laboratorio de Genetica Clinica SL in Spain.

GCK, GLUD1, ABCC8, KCNJ11, INSR
Specificity
20 %
Genes
100 %
DONOHUE SYNDROME (LEPRECHAUNISM).

By Laboratorio de Genetica Clinica SL in Spain.

INSR
Specificity
100 %
Genes
100 %
RABSON-MENDENHALL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

INSR
Specificity
100 %
Genes
100 %
DIABETES MODY & NEONATAL DIABETES : NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

HNF1A, NEUROD1, HNF1B, GCK, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, IER3IP1, SLC2A2, RFX6, PAX4, KLF11, BLK, GLIS3, PTF1A, EIF2AK3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Rabson-Mendenhall Syndrome , Sequencing INSR Gene.

By Reference Laboratory Genetics in Spain.

INSR
Specificity
100 %
Genes
100 %
Familial Hypoglycemia Hyperinsulinemia Type 5 , Sequencing INSR Gene.

By Reference Laboratory Genetics in Spain.

INSR
Specificity
100 %
Genes
100 %
Donohue Syndrome, Sequencing INSR Gene.

By Reference Laboratory Genetics in Spain.

INSR
Specificity
100 %
Genes
100 %
Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

HNF1A, SLC16A1, GCK, UCP2, GLUD1, OTC, SLC25A15, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
9 %
Genes
100 %
Familial Hypoglycemia Hyperinsulinemia , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

SLC16A1, GCK, GLUD1, ABCC8, KCNJ11, HADH, INSR
Specificity
15 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Hyperinsulinemic Hypoglycemia, Familial, 5; Hhf5 Is also known as ;hyperinsulinemic hypoglycemia due to insr deficiency; hyperinsulinemic hypoglycemia due to insulin receptor deficiency.



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