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

Mutations in the POMC gene can lead to a deficiency accompanied by adrenal insufficiency, obesity, and redhairedness.

Systematic

Disorders of the glucocorticoid hormone system
ACTH-independent macronodular adrenal hyperplasia 1
ACTH-independent macronodular adrenal hyperplasia 2
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disorder of the aldosterone system
Disordered steroidogenesis due to POR deficiency
Glucocorticoid resistance
Obesity, adrenal insufficiency, and red hair due to POMC deficiency
POMC

References:

1.

Krude H et al. (1998) Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.

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2.

Yaswen L et al. (1999) Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin.

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3.

Krude H et al. (2003) Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.

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4.

OMIM.ORG article

Omim 609734 external link
Update: Aug. 14, 2020
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