Proopiomelanocortin Deficiency

Also Known As:

Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair

Networked: 7 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Endocrine System Diseases: 968
- Adrenal Gland Diseases: 24
  - Adrenal Insufficiency: 3937
    - Proopiomelanocortin Deficiency: 7
Nutritional and Metabolic Diseases: 15
- Nutrition Disorders: 404
  - Overnutrition: 616
    - Overweight: 21719
      - Obesity: 108607
        Proopiomelanocortin Deficiency: 7
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Body Weight: 130203
    - Overweight: 21719
      - Obesity: 108607
        Proopiomelanocortin Deficiency: 7
Hormones, Hormone Substitutes, and Hormone Antagonists
- Hormones: 80400
  - Peptide Hormones: 1347
    - Pituitary Hormones: 601
      - Anterior Pituitary Hormones: 187
        Pro-Opiomelanocortin: 1936
        Proopiomelanocortin Deficiency: 7
    - Hypothalamic Hormones: 68
      - Pro-Opiomelanocortin: 1936
        Proopiomelanocortin Deficiency: 7
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Protein Precursors: 37
    - Pro-Opiomelanocortin: 1936
      - Proopiomelanocortin Deficiency: 7
  - Nerve Tissue Proteins: 2
    - Neuropeptides: 6772
      - Hypothalamic Hormones: 68
        Pro-Opiomelanocortin: 1936
        Proopiomelanocortin Deficiency: 7
- Peptides: 82426
  - Neuropeptides: 6772
    - Hypothalamic Hormones: 68
      - Pro-Opiomelanocortin: 1936
        Proopiomelanocortin Deficiency: 7
  - Peptide Hormones: 1347
    - Pituitary Hormones: 601
      - Anterior Pituitary Hormones: 187
        Pro-Opiomelanocortin: 1936
        Proopiomelanocortin Deficiency: 7
    - Hypothalamic Hormones: 68
      - Pro-Opiomelanocortin: 1936
        Proopiomelanocortin Deficiency: 7

Related Diseases

1.	Obesity
2.	Malnutrition (Nutritional Deficiencies)
3.	Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)
4.	Morbid Obesity
5.	Menkes Kinky Hair Syndrome (Menkes Disease)

Experts

1.	Grüters, Annette: 2 articles (07/2016 - 10/2003)
2.	Krude, Heiko: 2 articles (07/2016 - 10/2003)
3.	Chistousova, Galina V: 1 article (01/2022)
4.	Filatova, Alexandra: 1 article (01/2022)
5.	Kalinchenko, Natalia: 1 article (01/2022)
6.	Marakhonov, Andrey: 1 article (01/2022)
7.	Rubtsov, Petr M: 1 article (01/2022)
8.	Skoblov, Mikhail: 1 article (01/2022)
9.	Tiulpakov, Anatoly: 1 article (01/2022)
10.	Vasilyev, Evgeny: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Proopiomelanocortin Deficiency:

1.	Type 4 Melanocortin Receptor (Melanocortin-4 Receptor)IBA 07/21/2016 - "Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist." 07/21/2016 - "In this investigator-initiated, open-label study, two patients with proopiomelanocortin deficiency were treated with setmelanotide, a new melanocortin-4 receptor agonist. " 01/01/2009 - "Humans with genetic defects resulting in leptin deficiency, leptin receptor deficiency, proopiomelanocortin deficiency (POMC), and melanocortin 4 receptor (MC4R) deficiency developed severe obesity as the dominant phenotypic feature, though these are rare autosomal recessive conditions, except MC4R deficiency which is inherited in an autosomal co-dominant fashion. "
2.	Thyroid HormonesIBA 10/01/2003 - "Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10."
3.	setmelanotideIBA 07/21/2016 - "In this investigator-initiated, open-label study, two patients with proopiomelanocortin deficiency were treated with setmelanotide, a new melanocortin-4 receptor agonist. "
4.	Pro-Opiomelanocortin (Proopiomelanocortin)IBA 11/01/2021 - "Adult-born proopiomelanocortin neurons derived from Rax-expressing precursors mitigate the metabolic effects of congenital hypothalamic proopiomelanocortin deficiency." 01/01/2022 - "A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA." 01/01/2009 - "Humans with genetic defects resulting in leptin deficiency, leptin receptor deficiency, proopiomelanocortin deficiency (POMC), and melanocortin 4 receptor (MC4R) deficiency developed severe obesity as the dominant phenotypic feature, though these are rare autosomal recessive conditions, except MC4R deficiency which is inherited in an autosomal co-dominant fashion. "
5.	Leptin ReceptorsIBA 01/01/2009 - "Humans with genetic defects resulting in leptin deficiency, leptin receptor deficiency, proopiomelanocortin deficiency (POMC), and melanocortin 4 receptor (MC4R) deficiency developed severe obesity as the dominant phenotypic feature, though these are rare autosomal recessive conditions, except MC4R deficiency which is inherited in an autosomal co-dominant fashion. "
6.	LeptinIBA 01/01/2009 - "Humans with genetic defects resulting in leptin deficiency, leptin receptor deficiency, proopiomelanocortin deficiency (POMC), and melanocortin 4 receptor (MC4R) deficiency developed severe obesity as the dominant phenotypic feature, though these are rare autosomal recessive conditions, except MC4R deficiency which is inherited in an autosomal co-dominant fashion. "
7.	Messenger RNA (mRNA)IBA 01/01/2022 - "A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA."
8.	MetalsIBA 12/01/2011 - "Hair melanin contents were also analysed in patients with various hypopigmentary disorders including Hermansky-Pudlak syndrome, Menkes disease, proopiomelanocortin deficiency, cystinosis, malnutrition and trace metal deficiency. "
9.	Melanins (Melanin)IBA 12/01/2011 - "Hair melanin contents were also analysed in patients with various hypopigmentary disorders including Hermansky-Pudlak syndrome, Menkes disease, proopiomelanocortin deficiency, cystinosis, malnutrition and trace metal deficiency. "
10.	Adrenocorticotropic Hormone (ACTH)FDA Link 10/01/2004 - "The effects of proopiomelanocortin deficiency on murine adrenal development and responsiveness to adrenocorticotropin."