POMC gene related symptoms and diseases

All the information presented here about the POMC 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 POMC gene

Symptoms // Phenotype % Cases
Increased body weight Very Common - Between 80% and 100% cases
Obesity Very Common - Between 80% and 100% cases
Weight loss Very Common - Between 80% and 100% cases
Polyphagia Very Common - Between 80% and 100% cases
Acanthosis nigricans Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with POMC gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Seizures
  • Increased adipose tissue
  • Childhood-onset truncal obesity
  • Abnormal eating behavior
  • Hypertension
  • Hypogonadism
  • Diabetes mellitus
  • Hepatic steatosis

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to POMC gene

Here you will find a list of rare diseases related to the POMC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY

Alternate names

OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY Is also known as pomc deficiency, proopiomelanocortin deficiency

Description

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.

Most common symptoms of OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY

  • Seizures
  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Obesity


More info about OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY

SOURCES: MESH OMIM ORPHANET

OBESITY

Description

excessively high accumulation of body fat or adipose tissue in relation to lean body mass; the amount of body fat (or adiposity) includes concern for both the distribution of fat throughout the body and the size of the adipose tissue deposits; individuals are usually at high clinical risk because of excess amount of body fat (BMI greater than 30).

Most common symptoms of OBESITY

  • Hypertension
  • Obesity
  • Hypogonadism
  • Diabetes mellitus
  • Weight loss


More info about OBESITY

SOURCES: OMIM


Potential gene panels for POMC gene

POMC Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the POMC gene.

More info about this panel
United States.

POMC Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the POMC gene.

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.

POMC. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the POMC gene.

More info about this panel
Spain.

Obesity (sequence analysis of POMC gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POMC gene.

More info about this panel
Portugal.

Non-Syndromic Monogenic Obesity via POMC Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the POMC gene.

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.

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.

Proopiomelanocortin deficiency/MODY diabetes Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the POMC gene.

More info about this panel
Germany.

Proopiomelanocortin Deficiency Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the POMC 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.

Obesity with adrenal insufficiency and red hair Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the POMC gene.

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.

Obesity Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum Obesity that also includes the following genes: MC4R POMC

More info about this panel
Germany.

Proopiomelanocortin Deficiency Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the POMC gene.

More info about this panel
Germany.

PROOPIOMELANOCORTIN (POMC) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the POMC gene.

More info about this panel
Germany.

Obesity, adrenal insufficiency, and red hair due to POMC deficiency Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the POMC gene.

More info about this panel
Austria.

Obesity, adrenal insufficiency, and red hair due to POMC deficiency Panel

Slovakia.

By MedGene

This panel specifically test the POMC 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.

POMC Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POMC 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.

Glucocorticoid Deficiency Panel Panel

Finland.

By Blueprint Genetics Glucocorticoid Deficiency Panel that also includes the following genes: STAR MRAP MC2R NNT NR3C1 POMC

More info about this panel
Finland.

Obesity, severe, susceptibility to Panel

Spain.

By Bioarray

This panel specifically test the POMC 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.

POMC 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 POMC 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.

Early Obesity (Susceptibility to) , Sequencing POMC Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the POMC 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.

Proopiomelanocortin Deficiency: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the POMC gene.

More info about this panel
Canada.

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