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

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OMIM 57 609734 Orphanet 59 ORPHA71526 ICD10 via Orphanet 34 E66.8 UMLS via Orphanet 74 C1857854

MedGen 42 C1857854 MeSH 44 D009765 SNOMED-CT via HPO 69 258211005 123526007 400003000 2109003 237774001 83469008 111563005 237785004 386584007 402599005 72129000 18655006 201284005 23006000 89031001 197446008 30144000 33688009 36440009 432788009 414915002 414916001 297997007 297991008 267023007 58424009 72405004 123983008 26165005 33927004 82598004 237692001 more UMLS 73 C1857854

NIH Rare Diseases : ⁵³ 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.  

MalaCards based summary : Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair, also known as proopiomelanocortin deficiency, is related to adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency and leukemia. An important gene associated with Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair is POMC (Proopiomelanocortin). Affiliated tissues include skin, pituitary and thyroid, and related phenotypes are obesity and failure to thrive

Genetics Home Reference : ²⁵ 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.

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)

UniProtKB/Swiss-Prot : ⁷⁵ 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.

GeneReviews: NBK174451

Clinical features from OMIM:

609734

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