LEPR gene related symptoms and diseases
All the information presented here about the LEPR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LEPR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Emotional lability | Very Common - Between 80% and 100% cases |
| Decreased T cell activation | Very Common - Between 80% and 100% cases |
| Decreased serum leptin | Very Common - Between 80% and 100% cases |
| Hypoplasia of the ovary | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LEPR gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Orthostatic hypotension due to autonomic dysfunction
- Decreased proportion of CD4-positive T cells
- Decreased testosterone in males
- Decreased serum estradiol
- Absence of secondary sex characteristics
- Immune dysregulation
- Pituitary hypothyroidism
- Insulin-resistant diabetes mellitus
And 16 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LEPR gene
Here you will find a list of rare diseases related to the LEPR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OBESITY DUE TO LEPTIN RECEPTOR GENE DEFICIENCY
Alternate names
OBESITY DUE TO LEPTIN RECEPTOR GENE DEFICIENCY Is also known as obesity, morbid, nonsyndromic 2
Description
Deficiency or dysfunction of the leptin receptor, which is associated with loss-of-function mutation(s) in the LEPR gene.
Most common symptoms of OBESITY DUE TO LEPTIN RECEPTOR GENE DEFICIENCY
- Intellectual disability
- Obesity
- Hypogonadism
- Aggressive behavior
- Delayed puberty
More info about OBESITY DUE TO LEPTIN RECEPTOR GENE DEFICIENCY
Search interest in LEPR
Potential gene panels for LEPR gene
LEPR Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the LEPR gene.
More info about this panel United States.
LEPR Sequence Analysis (Familial Mutation/Variant Analysis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the LEPR gene.
More info about this panel United States.
Early Onset Obesity (LEPR) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the LEPR gene.
More info about this panel United States.
Early Onset Obesity Panel Panel
United States.
By Athena Diagnostics Inc Early Onset Obesity Panel that also includes the following genes: LEPR MC4R
More info about this panel United States.
Monogenic Obesity Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Monogenic Obesity Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8
More info about this panel United States.
Non-syndromic Monogenic Obesity Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Non-syndromic Monogenic Obesity Sequencing Panel that also includes the following genes: UCP3 DYRK1B LEP LEPR MC4R NR0B2 POMC
More info about this panel United States.
Monogenic Obesity Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Monogenic Obesity Deletion/Duplication Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8
More info about this panel United States.
Non-Syndromic Monogenic Obesity Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Non-Syndromic Monogenic Obesity Deletion/Duplication Panel that also includes the following genes: UCP3 DYRK1B LEP LEPR MC4R NR0B2 POMC
More info about this panel United States.
LEPR. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LEPR gene.
More info about this panel Spain.
Monogenic Non-Syndromic Obesity, AR (sequence analysis of LEPR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LEPR gene.
More info about this panel Portugal.
Non-Syndromic Monogenic Obesity via LEPR Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the LEPR gene.
More info about this panel United States.
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E SOX10 SOX2 SOX3 TAC3 TACR3 WDR11 SPRY4 PROKR2
More info about this panel United States.
Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection that also includes the following genes: SIM1 UCP3 KSR2 SH2B1 LEP LEPR MC4R NR0B2 NTRK2 PCSK1
More info about this panel United States.
Female Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Male Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Comprehensive Monogenic Obesity Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Monogenic Obesity Panel with CNV Detection that also includes the following genes: BDNF SDCCAG8 SIM1 TUB UCP3 KDM6A ARL6 RAB23 TRIM32 PHF6
More info about this panel United States.
Leptin Receptor Deficiency Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the LEPR gene.
More info about this panel Germany.
Obesity Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Obesity that also includes the following genes: LEP LEPR MC3R MC4R POMC
More info about this panel Germany.
LEPR Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the LEPR gene.
More info about this panel Netherlands.
LEPTIN RECEPTOR (LEPR) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the LEPR gene.
More info about this panel Germany.
Obesity, morbid, with hypogonadism Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the LEPR gene.
More info about this panel Austria.
Obesity, morbid, with hypogonadism Panel
Slovakia.
By MedGene
This panel specifically test the LEPR gene.
More info about this panel Slovakia.
Congenital Obesity: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Obesity: Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 ARL6 TRIM32 PHF6 BBS7 TTC8 VPS13B BBS10 BBS12
More info about this panel United States.
Diabetes-Obesity NGS Panel Panel
United States.
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 panel United States.
LEPR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LEPR gene.
More info about this panel United States.
Monogenic Obesity Panel Panel
Finland.
By Blueprint Genetics Monogenic Obesity Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 PHF6 KSR2 BBS7 TTC8 VPS13B
More info about this panel Finland.
Obesity due to leptin receptor gene deficiency Panel
Spain.
By Bioarray
This panel specifically test the LEPR gene.
More info about this panel Spain.
Early Onset Obesity NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Early Onset Obesity NGS and Deletion/Duplication Panel that also includes the following genes: LEP LEPR MC4R PCSK1 POMC
More info about this panel United States.
LEPR 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 LEPR gene.
More info about this panel United States.
MONOGENIC OBESITY DUE TO MELANOCORTIN-LEPTIN PATHWAY DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL MONOGENIC OBESITY DUE TO MELANOCORTIN-LEPTIN PATHWAY DEFICIENCY that also includes the following genes: LEP LEPR MC3R MC4R PCSK1 POMC
More info about this panel Spain.
Morbid Obesity due to Leptin Receptor Deficiency , Sequencing LEPR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LEPR gene.
More info about this panel Spain.
Severe Obesity (Susceptibility to) , Panel Massive Sequencing (NGS) 18 Genes Panel
Spain.
By Reference Laboratory Genetics Severe Obesity (Susceptibility to) , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: SDC3 SIM1 UCP1 UCP3 GHRL CARTPT ADRB3 PPARGC1B AGRP ENPP1
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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