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
  • Absence of secondary sex characteristics
  • Decreased serum estradiol
  • Immune dysregulation
  • Pituitary hypothyroidism
  • Insulin-resistant diabetes mellitus

And 16 more phenotypes, you can get all of them using our tools for rare diseases.

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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

SOURCES: ORPHANET OMIM


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Leptin Receptor Deficiency Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the LEPR gene.

More info about this panel

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

LEPR Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the LEPR gene.

More info about this panel

LEPTIN RECEPTOR (LEPR) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the LEPR gene.

More info about this panel

Obesity, morbid, with hypogonadism Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the LEPR gene.

More info about this panel

Obesity, morbid, with hypogonadism Panel

Slovakia.

By MedGene

This panel specifically test the LEPR gene.

More info about this panel

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

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

LEPR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LEPR gene.

More info about this panel

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

Obesity due to leptin receptor gene deficiency Panel

Spain.

By Bioarray

This panel specifically test the LEPR gene.

More info about this panel

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

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

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

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

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

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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