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
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
Search interest in POMC
Potential gene panels for POMC gene
POMC Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the POMC gene.
More info about this panelPOMC Sequence Analysis (Familial Mutation/Variant Analysis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the POMC gene.
More info about this panelMonogenic Obesity Sequencing Panel Panel
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 panelNon-syndromic Monogenic Obesity Sequencing Panel Panel
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 panelMonogenic Obesity Deletion/Duplication Panel Panel
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 panelNon-Syndromic Monogenic Obesity Deletion/Duplication Panel Panel
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 panelPOMC. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the POMC gene.
More info about this panelObesity (sequence analysis of POMC gene) Panel
By CGC Genetics
This panel specifically test the POMC gene.
More info about this panelNon-Syndromic Monogenic Obesity via POMC Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the POMC gene.
More info about this panelNon-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection Panel
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 panelComprehensive Monogenic Obesity Panel with CNV Detection Panel
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 panelProopiomelanocortin deficiency/MODY diabetes Panel
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the POMC gene.
More info about this panelProopiomelanocortin Deficiency Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the POMC gene.
More info about this panelObesity Panel
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 panelObesity with adrenal insufficiency and red hair Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the POMC gene.
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 panelObesity Panel
By bio.logis Center for Human Genetics Diagnosticum Obesity that also includes the following genes: MC4R POMC
More info about this panelProopiomelanocortin Deficiency Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the POMC gene.
More info about this panelPROOPIOMELANOCORTIN (POMC) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the POMC gene.
More info about this panelObesity, adrenal insufficiency, and red hair due to POMC deficiency Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the POMC gene.
More info about this panelObesity, adrenal insufficiency, and red hair due to POMC deficiency Panel
By MedGene
This panel specifically test the POMC gene.
More info about this panelCongenital Obesity: Sequencing Panel Panel
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 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 panelPOMC Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POMC gene.
More info about this panelMonogenic Obesity Panel Panel
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 panelGlucocorticoid Deficiency Panel Panel
By Blueprint Genetics Glucocorticoid Deficiency Panel that also includes the following genes: STAR MRAP MC2R NNT NR3C1 POMC
More info about this panelObesity, severe, susceptibility to Panel
By Bioarray
This panel specifically test the POMC gene.
More info about this panelEarly Onset Obesity NGS and Deletion/Duplication Panel Panel
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 panelPOMC 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 POMC gene.
More info about this panelMONOGENIC OBESITY DUE TO MELANOCORTIN-LEPTIN PATHWAY DEFICIENCY Panel
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 panelEarly Obesity (Susceptibility to) , Sequencing POMC Gene Panel
By Reference Laboratory Genetics
This panel specifically test the POMC gene.
More info about this panelSevere Obesity (Susceptibility to) , Panel Massive Sequencing (NGS) 18 Genes Panel
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 panelProopiomelanocortin Deficiency: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the POMC gene.
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