INSR gene related symptoms and diseases

All the information presented here about the INSR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to INSR gene

Symptoms // Phenotype % Cases
Insulin resistance Very Common - Between 80% and 100% cases
Hirsutism Common - Between 50% and 80% cases
Hyperinsulinemia Common - Between 50% and 80% cases
Acanthosis nigricans Common - Between 50% and 80% cases
Polycystic ovaries Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with INSR gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Diabetes mellitus
  • Not very common - Between 30% and 50% cases

  • Generalized hirsutism
  • Mandibular prognathia
  • Hypoglycemia
  • Short stature
  • Long penis
  • Intellectual disability
  • Hyperglycemia

And 240 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to INSR gene

Here you will find a list of rare diseases related to the INSR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


POLYCYSTIC OVARY SYNDROME 1; PCOS1


Alternate names

POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos

Description

a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance

Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1

  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Obesity
  • Diabetes mellitus
  • Apnea


More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1

SOURCES: OMIM MESH

LEPRECHAUNISM


Alternate names

LEPRECHAUNISM Is also known as donohue syndrome, leprechaunism

Description

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

Most common symptoms of LEPRECHAUNISM

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


More info about LEPRECHAUNISM

SOURCES: MESH ORPHANET OMIM

HYPERINSULINISM DUE TO INSR DEFICIENCY


Alternate names

HYPERINSULINISM DUE TO INSR DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to insr deficiency, hyperinsulinemic hypoglycemia due to insulin receptor deficiency

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.

Most common symptoms of HYPERINSULINISM DUE TO INSR DEFICIENCY

  • Seizures
  • Fatigue
  • Hypoglycemia
  • Hirsutism
  • Coma


More info about HYPERINSULINISM DUE TO INSR DEFICIENCY

SOURCES: MESH ORPHANET OMIM

INSULIN-RESISTANCE SYNDROME TYPE A


Alternate names

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a, insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans, iran, type a

Description

Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

Most common symptoms of INSULIN-RESISTANCE SYNDROME TYPE A

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


More info about INSULIN-RESISTANCE SYNDROME TYPE A

SOURCES: OMIM MESH ORPHANET

RABSON-MENDENHALL SYNDROME


Description

Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Most common symptoms of RABSON-MENDENHALL SYNDROME

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


More info about RABSON-MENDENHALL SYNDROME

SOURCES: ORPHANET

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE


Alternate names

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome, rabson-mendenhall syndrome

Description

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

Most common symptoms of OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

SOURCES: OMIM ORPHANET

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS


Alternate names

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome, bpids

Most common symptoms of KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

SOURCES: OMIM

DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM


Alternate names

DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM Is also known as noninsulin-dependent diabetes mellitus, maturity-onset diabetes, diabetes mellitus, type ii, t2d

Most common symptoms of DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

  • Diabetes mellitus
  • Type II diabetes mellitus
  • Insulin resistance
  • Type I diabetes mellitus
  • Hyperinsulinemia


More info about DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

SOURCES: OMIM ORPHANET


Potential gene panels for INSR gene

Maturity-onset Diabetes of the Young Panel Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Maturity-onset Diabetes of the Young Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL AKT2 GCK HNF4A ABCC8 INS

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

INSR deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the INSR gene.

More info about this panel

INSR sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the INSR gene.

More info about this panel

Comprehensive Familial Hyperinsulinism Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Familial Hyperinsulinism Panel that also includes the following genes: SLC16A1 HNF1A UCP2 KDM6A GCK GLUD1 HADH HNF4A ABCC8 INSR

More info about this panel

Inherited Insulin Resistance Syndromes (INSR) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the INSR gene.

More info about this panel

INSR. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the INSR gene.

More info about this panel

Donohue Syndrome (sequence analysis of INSR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the INSR gene.

More info about this panel

Diabetes mellitus and acanthosis nigricans (sequence analysis of INSR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the INSR gene.

More info about this panel

Familial hyperinsulinism (NGS panel of 9 genes) Panel

Portugal.

By CGC Genetics Familial hyperinsulinism (NGS panel of 9 genes) that also includes the following genes: SLC16A1 UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR KCNJ11

More info about this panel

Familial hyperinsulinism (NGS panel of 9 genes) Panel

Portugal.

By CGC Genetics Familial hyperinsulinism (NGS panel of 9 genes) that also includes the following genes: SLC16A1 UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR KCNJ11

More info about this panel

Insulin-resistant diabetes mellitus AND acanthosis nigricans Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the INSR gene.

More info about this panel

Leprechaunism syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the INSR gene.

More info about this panel

Pineal hyperplasia AND diabetes mellitus syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the INSR gene.

More info about this panel

INSR Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the INSR gene.

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Diabetes mellitus insulin-resistant with acanthosis nigricans Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the INSR gene.

More info about this panel

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Panel

United Kingdom.

By Cambridge University Hospitals NHS Genetics Laboratory Cambridge University Hospitals NHS Foundation Trust

This panel specifically test the INSR gene.

More info about this panel

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the INSR gene.

More info about this panel

Mixed hyperlipidemias Panel

Spain.

By Health in Code Mixed hyperlipidemias that also includes the following genes: ZMPSTE24 CAV1 BSCL2 INSIG2 CIDEC AGPAT2 AKT2 INSR LEP LMNA

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Dyslipidemias / Early atherosclerosis Panel

Spain.

By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1

More info about this panel

Hyperinsulinemic Hypoglycemia, Familial, 5, HHF5: INSR gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the INSR gene.

More info about this panel

FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA that also includes the following genes: SLC16A1 SLC25A15 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR

More info about this panel

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3

More info about this panel

Endocrine Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Endocrine Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Hyperinsulinism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hyperinsulinism NGS Panel that also includes the following genes: SLC16A1 UCP2 GCK GLUD1 HADH HNF4A ABCC8 INS INSR PDX1

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

MODY Neonatal Diabetes NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics MODY Neonatal Diabetes NGS Panel that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 ZFP57

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

INSR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the INSR gene.

More info about this panel

Comprehensive Short Stature Syndrome Panel Panel

Finland.

By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B

More info about this panel

Comprehensive Monogenic Diabetes Panel Panel

Finland.

By Blueprint Genetics Comprehensive Monogenic Diabetes Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 ZFP57

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel

Finland.

By Blueprint Genetics Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel that also includes the following genes: SLC16A1 SLC2A2 HNF1A UCP2 RBCK1 NHLRC1 PTF1A ACSF3 AGL ENO3

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Donohue syndrome Panel

Spain.

By Bioarray

This panel specifically test the INSR gene.

More info about this panel

Familial Hyperinsulinism NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Familial Hyperinsulinism NGS and Deletion/Duplication Panel that also includes the following genes: SLC16A1 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR KCNJ11

More info about this panel

INSR Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the INSR gene.

More info about this panel

Monogenic Diabetes NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Monogenic Diabetes NGS and Deletion/Duplication Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 CEL

More info about this panel

DIABETES MELLITUS, INSULIN-RESISTANT Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the INSR gene.

More info about this panel

FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) that also includes the following genes: GCK GLUD1 INSR KCNJ11

More info about this panel

DONOHUE SYNDROME (LEPRECHAUNISM) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the INSR gene.

More info about this panel

RABSON-MENDENHALL SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the INSR gene.

More info about this panel

DIABETES MODY & NEONATAL DIABETES : NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DIABETES MODY & NEONATAL DIABETES : NGS PANEL that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 NEUROG3 IER3IP1 ZFP57 RFX6 PTF1A

More info about this panel

FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) NGS PANEL that also includes the following genes: SLC16A1 GCK GLUD1 HADH ABCC8 INSR KCNJ11

More info about this panel

Rabson-Mendenhall Syndrome , Sequencing INSR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the INSR gene.

More info about this panel

Familial Hypoglycemia Hyperinsulinemia Type 5 , Sequencing INSR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the INSR gene.

More info about this panel

Donohue Syndrome, Sequencing INSR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the INSR gene.

More info about this panel

Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SLC16A1 SLC25A15 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR

More info about this panel

Familial Hypoglycemia Hyperinsulinemia , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Hypoglycemia Hyperinsulinemia , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC16A1 GCK GLUD1 HADH ABCC8 INSR KCNJ11

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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