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.
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
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
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
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
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
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
Search interest in INSR
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 United States.
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 United States.
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 United States.
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 United States.
INSR sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the INSR gene.
More info about this panel United States.
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 United States.
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 United States.
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 Spain.
Donohue Syndrome (sequence analysis of INSR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the INSR gene.
More info about this panel Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Germany.
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 Germany.
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 Germany.
INSR Panel
Slovakia.
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the INSR gene.
More info about this panel Slovakia.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 United Kingdom.
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 Germany.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
INSR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the INSR gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Donohue syndrome Panel
Spain.
By Bioarray
This panel specifically test the INSR gene.
More info about this panel Spain.
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 United States.
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 United States.
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 United States.
DIABETES MELLITUS, INSULIN-RESISTANT Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the INSR gene.
More info about this panel Spain.
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 Spain.
DONOHUE SYNDROME (LEPRECHAUNISM) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the INSR gene.
More info about this panel Spain.
RABSON-MENDENHALL SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the INSR gene.
More info about this panel Spain.
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 Spain.
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 Spain.
Rabson-Mendenhall Syndrome , Sequencing INSR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the INSR gene.
More info about this panel Spain.
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 Spain.
Donohue Syndrome, Sequencing INSR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the INSR gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 United States.
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