Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair (OBAIRH)

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OMIM® 57 609734 MeSH 44 D009765 ICD10 via Orphanet 33 E66.8 UMLS via Orphanet 71 C1857854

Orphanet 58 ORPHA71526 MedGen 41 C1857854 SNOMED-CT via HPO 68 111563005 123526007 123983008 18655006 197446008 201284005 2109003 23006000 237692001 237774001 237785004 258211005 26165005 267023007 297997007 30144000 33688009 33927004 36440009 386584007 400003000 402599005 414915002 414916001 432788009 58424009 72129000 72405004 82598004 83469008 89031001 more UMLS 70 C1857854

MedlinePlus Genetics : ⁴³ Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously gain weight and are severely obese by age 1. Affected individuals experience excessive hunger and remain obese for life. It is unclear if these individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes.Low levels of ACTH lead to a condition called adrenal insufficiency, which occurs when the pair of small glands on top of the kidneys (the adrenal glands) do not produce enough hormones. Adrenal insufficiency often results in periods of severely low blood sugar (hypoglycemia) in people with POMC deficiency, which can cause seizures, elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia), and a reduced ability to produce and release a digestive fluid called bile (cholestasis). Without early treatment, adrenal insufficiency can be fatal.Pale skin that easily burns when exposed to the sun and red hair are common in POMC deficiency, although not everyone with the condition has these characteristics.

MalaCards based summary : Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair, also known as proopiomelanocortin deficiency, is related to body mass index quantitative trait locus 9 and body mass index quantitative trait locus 8. An important gene associated with Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair is POMC (Proopiomelanocortin). The drugs Adrenocorticotropic Hormone and Melanocyte-Stimulating Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary and thyroid, and related phenotypes are increased adipose tissue and polyphagia

GARD : ²⁰ Proopiomelanocortin (POMC) deficiency is characterized by severe obesity that begins at an early age. Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding and weight gain during the first year and throughout life. In addition, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) which leads to adrenal insufficiency. They also tend to have red hair and pale skin. POMC deficiency is caused by mutations in the POMC gene. The condition is inherited in an autosomal recessive pattern. Adrenal insufficiency requires prompt treatment with hydrocortisone to avoid life-threatening complications.

OMIM® : ⁵⁷ OBAIRH is an autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. In the neonatal period, affected individuals are prone to hypoglycemia, hyperbilirubinemia, and cholestasis that may result in death if not treated. The disorder results from mutation in the POMC gene, which encodes a preproprotein that is processed into a range of bioactive peptides, including alpha-melanocyte-stimulating hormone (MSH) and ACTH (summary by Kuhnen et al., 2016 and Clement et al., 2008). (609734) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : ⁷² Obesity, early-onset, with adrenal insufficiency and red hair: An autosomal recessive disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism.

Clinical features from OMIM®:

609734 (Updated 05-Apr-2021)

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