INS gene related symptoms and diseases
All the information presented here about the INS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to INS gene
Symptoms // Phenotype | % Cases |
---|---|
Diabetes mellitus | Common - Between 50% and 80% cases |
Hyperglycemia | Common - Between 50% and 80% cases |
Intrauterine growth retardation | Uncommon - Between 30% and 50% cases |
Insulin resistance | Uncommon - Between 30% and 50% cases |
Pancreatic hypoplasia | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with INS gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Type I diabetes mellitus
- Prominent metopic ridge
- Retinopathy
- Global developmental delay
- Failure to thrive
- Motor delay
- Maturity-onset diabetes of the young
- Glucose intolerance
And 94 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to INS gene
Here you will find a list of rare diseases related to the INS. 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
DIABETES MELLITUS, INSULIN-DEPENDENT, 2
Alternate names
DIABETES MELLITUS, INSULIN-DEPENDENT, 2 Is also known as iddm2, insulin-dependent diabetes mellitus 2
Most common symptoms of DIABETES MELLITUS, INSULIN-DEPENDENT, 2
- Diabetes mellitus
- Type I diabetes mellitus
More info about DIABETES MELLITUS, INSULIN-DEPENDENT, 2
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10
Most common symptoms of MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10
- Intrauterine growth retardation
- Hyperglycemia
- Maturity-onset diabetes of the young
- Diabetic ketoacidosis
More info about MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10
SOURCES: OMIM
MODY
Alternate names
MODY Is also known as maturity-onset diabetes of the young, mason-type diabetes
Description
MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
Most common symptoms of MODY
- Hypertension
- Diabetes mellitus
- Retinopathy
- Type II diabetes mellitus
- Insulin resistance
More info about MODY
PERMANENT NEONATAL DIABETES MELLITUS
Alternate names
PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy, pndm
Description
Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.
Most common symptoms of PERMANENT NEONATAL DIABETES MELLITUS
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Ataxia
- Failure to thrive
More info about PERMANENT NEONATAL DIABETES MELLITUS
SOURCES: ORPHANET
DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
Alternate names
DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy, pdmi
Description
Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.
Most common symptoms of DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
- Seizures
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
- Muscle weakness
More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
HYPERPROINSULINEMIA
Description
Insulin (INS ) is produced posttranslationally from its precursor molecule, proinsulin, by site-directed proteolysis in beta-cell granules. Conversion involves cleavage at pairs of basic residues that link both the insulin A and B chains to C-peptide. Human proinsulin conversion has a preferred sequential route, such that cleavage at the B-chain/C-peptide junction occurs first, producing des-31,32 split proinsulin as the major conversion intermediate. Under normal circumstances, proinsulin conversion is largely completed before secretion, and low plasma levels of intact proinsulin and conversion intermediates are found. Structural abnormalities in the proinsulin molecule can impair conversion, leading to the accumulation of proinsulin-like material in the circulation. Such defects show an autosomal dominant mode of inheritance and are the main cause of familial hyperproinsulinemia (summary by Warren-Perry et al., 1997).
Most common symptoms of HYPERPROINSULINEMIA
- Diabetes mellitus
- Hypoglycemia
- Insulin resistance
- Hyperinsulinemia
- Hyperglycemia
More info about HYPERPROINSULINEMIA
Search interest in INS
Potential gene panels for INS gene
INS (NDM) DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the INS gene.
More info about this panelNeonatal Diabetes Mellitus Evaluation Panel
By Athena Diagnostics Inc Neonatal Diabetes Mellitus Evaluation that also includes the following genes: GCK ABCC8 INS PDX1 KCNJ11
More info about this panelMaturity-Onset Diabetes of the Young Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Maturity-Onset Diabetes of the Young that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 IER3IP1 RFX6 CP
More info about this panelMaturity-onset Diabetes of the Young Panel Panel
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 panelMODY Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago MODY Deletion/Duplication Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL APPL1 GCK HNF4A ABCC8 INS
More info about this panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel
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 panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel
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 panelComprehensive Neonatal Diabetes Mutation Analysis Panel
By Genetic Services Laboratory University of Chicago Comprehensive Neonatal Diabetes Mutation Analysis that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 HYMAI ABCC8 INS FOXP3
More info about this panelMODY Panel Panel
By Genetic Services Laboratory University of Chicago MODY Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL APPL1 GCK HNF4A ABCC8 INS
More info about this panelNeonatal Diabetes Mellitus Deletion/Duplication Analysis Panel
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Deletion/Duplication Analysis that also includes the following genes: ZFP57 EIF2AK3 GCK ABCC8 INS FOXP3 PDX1 KCNJ11
More info about this panelNeonatal Diabetes Mellitus Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Sequencing Panel that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 ABCC8 INS FOXP3 PDX1
More info about this panelINS mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the INS gene.
More info about this panelINS. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the INS gene.
More info about this panelPermanent neonatal diabetes mellitus (deletion/duplication analysis of INS gene) Panel
By CGC Genetics
This panel specifically test the INS gene.
More info about this panelMODY (NGS panel for 13 genes) Panel
By CGC Genetics MODY (NGS panel for 13 genes) that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL GCK HNF4A ABCC8 INS PDX1
More info about this panelDiabetes mellitus permanent neonatal (NGS panel for 13 genes) Panel
By CGC Genetics Diabetes mellitus permanent neonatal (NGS panel for 13 genes) that also includes the following genes: SLC19A2 HNF1B IER3IP1 RFX6 PTF1A GLIS3 GATA6 GCK ABCC8 INS
More info about this panelPermanent neonatal diabetes mellitus Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Permanent neonatal diabetes mellitus that also includes the following genes: GCK ABCC8 INS KCNJ11
More info about this panelPermanent neonatal diabetes mellitus Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Permanent neonatal diabetes mellitus that also includes the following genes: GCK ABCC8 INS KCNJ11
More info about this panelMaturity Onset Diabetes of the Young (Types 1 to 10) Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Maturity Onset Diabetes of the Young (Types 1 to 10) that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL GCK HNF4A INS PDX1 NEUROD1
More info about this panelMaturity-onset diabetes of the young, type 10 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the INS gene.
More info about this panelNeonatal Diabetes Mellitus Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Neonatal Diabetes Mellitus that also includes the following genes: ZFP57 GCK ABCC8 INS PDX1 KCNJ11
More info about this panelMaturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via INS Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the INS gene.
More info about this panelMaturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection that also includes the following genes: BLK HNF1A HNF1B KLF11 APPL1 GCK HNF4A ABCC8 INS PDX1
More info about this panelINS Panel
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the INS gene.
More info about this panelNephrology Endocrinology and Electrolytes - panels Panel
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panelMODY panel Panel
By Centogene AG - the Rare Disease Company MODY panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8
More info about this panelMaturity-onset diabetes of the young type 10 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the INS gene.
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelDiabetes mellitus type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the INS gene.
More info about this panelDiabetes mellitus permanent neonatal Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the INS gene.
More info about this panelMaturity onset diabetes mellitus in young Panel
By bio.logis Center for Human Genetics Diagnosticum Maturity onset diabetes mellitus in young that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL GCK HNF4A INS PDX1 NEUROD1
More info about this panelMaturity Onset Diabetes of the Young (MODY) Panel
By Asper Biogene Asper Biogene LLC Maturity Onset Diabetes of the Young (MODY) that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8
More info about this panelCardiovascular Diseases_General Panel Panel
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 panelMaturity-onsetdiabetes of the youngMODY Panel
By Health in Code Maturity-onsetdiabetes of the youngMODY that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 TBC1D4
More info about this panelDyslipidemias / Early atherosclerosis Panel
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 panelDiabetes mellitus, insulin-dependent, 2 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the INS gene.
More info about this panelDiabetes mellitus, permanent neonatal Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the INS gene.
More info about this panelMODY 10 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the INS gene.
More info about this panelDiabetes mellitus, insulin-dependent, 2 Panel
By MedGene
This panel specifically test the INS gene.
More info about this panelDiabetes mellitus, permanent neonatal Panel
By MedGene
This panel specifically test the INS gene.
More info about this panelMODY 10 Panel
By MedGene
This panel specifically test the INS gene.
More info about this panelDiabetes mellitus, neonatal permanent Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Diabetes mellitus, neonatal permanent that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK
More info about this panelEndocrine Disorders: Sequencing Panel Panel
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 panelEndocrine Disorders: Deletion/Duplication Panel Panel
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 panelDiabetes-Obesity NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL
More info about this panelHyperinsulinism NGS Panel Panel
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 panelMODY Neonatal Diabetes NGS Panel Panel
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 panelINS Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the INS gene.
More info about this panelMODY Panel Panel
By Blueprint Genetics MODY Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 RFX6 GCK HNF4A ABCC8 INS PDX1
More info about this panelComprehensive Monogenic Diabetes Panel Panel
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 panelDiabetes mellitus, permanent neonatal Panel
By Bioarray
This panel specifically test the INS gene.
More info about this panelMaturity-Onset Diabetes of the Young NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Maturity-Onset Diabetes of the Young NGS and Deletion/Duplication Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL GCK HNF4A ABCC8 INS PDX1
More info about this panelINS Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the INS gene.
More info about this panelMonogenic Diabetes NGS and Deletion/Duplication Panel Panel
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 panelMATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 10 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the INS gene.
More info about this panelDIABETES MODY & NEONATAL DIABETES : NGS PANEL Panel
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 panelMODY panel Panel
By LifeLabs Genetics MODY panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8
More info about this panelPermanent Neonatal Diabetes Mellitus , Sequencing INS Gene Panel
By Reference Laboratory Genetics
This panel specifically test the INS gene.
More info about this panelPermanent Neonatal Diabetes Mellitus , Deletions-Duplications (MLPA) INS Gene Panel
By Reference Laboratory Genetics
This panel specifically test the INS gene.
More info about this panelDiabetes MODY Types 4-10 , Deletions-Duplications (MLPA) PDX1, NEUROD1, KLF11, CEL, PAX4, INS Genes Panel
By Reference Laboratory Genetics Diabetes MODY Types 4-10 , Deletions-Duplications (MLPA) PDX1, NEUROD1, KLF11, CEL, PAX4, INS Genes that also includes the following genes: KLF11 CEL INS PDX1 NEUROD1 PAX4
More info about this panelPermanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes Panel
By Reference Laboratory Genetics Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK
More info about this panelPermanent Neonatal Diabetes Mellitus: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Permanent Neonatal Diabetes Mellitus: gene sequencing panel that also includes the following genes: GCK ABCC8 INS PDX1 KCNJ11
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