UCP2 gene related symptoms and diseases
All the information presented here about the UCP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to UCP2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Uncommon - Between 30% and 50% cases |
| Hyperinsulinemia | Uncommon - Between 30% and 50% cases |
| Abnormality of fatty-acid metabolism | Uncommon - Between 30% and 50% cases |
| Pancreatic islet-cell hyperplasia | Uncommon - Between 30% and 50% cases |
| Secondary growth hormone deficiency | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with UCP2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypoketotic hypoglycemia
- Hyperinsulinemic hypoglycemia
- Neonatal hypoglycemia
- Drowsiness
- Agitation
- Large for gestational age
- Progressive neurologic deterioration
- Global developmental delay
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to UCP2 gene
Here you will find a list of rare diseases related to the UCP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4; BMIQ4
Alternate names
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4; BMIQ4 Is also known as obesity, susceptibility to
More info about BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4; BMIQ4
SOURCES: OMIM
HYPERINSULINISM DUE TO UCP2 DEFICIENCY
Alternate names
HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency
Description
HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.
Most common symptoms of HYPERINSULINISM DUE TO UCP2 DEFICIENCY
- Seizures
- Global developmental delay
- Cognitive impairment
- Hepatomegaly
- Vomiting
More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY
SOURCES: ORPHANET
Search interest in UCP2
Potential gene panels for UCP2 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
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.
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.
Congenital Hyperinsulinism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Hyperinsulinism Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 KCNJ11
More info about this panel United States.
UCP2 Panel
Slovakia.
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the UCP2 gene.
More info about this panel Slovakia.
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.
Hyperinsulinism, UCP2 related Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the UCP2 gene.
More info about this panel Germany.
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.
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.
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.
UCP2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the UCP2 gene.
More info about this panel United States.
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.
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.
UCP2 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 UCP2 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.
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 Hyperinsulinism: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Hyperinsulinism: gene sequencing panel that also includes the following genes: UCP2 GCK GLUD1 HADH HNF4A ABCC8 KCNJ11
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SBF2 NEFL CHRNA4 HSD3B1 FBXO11 APOL4 KIZ