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GENATLAS PHENOTYPE

last update : 08-07-2020

Symbol	OBS10
Location	5q15
Name	extreme obesity with a defective prohormone processing
Other name(s)	obesity and endocrinopathy due to impaired processing of prohormones proprotein convertase 1 deficiency
Corresponding gene	PCSK1
Main clinical features	diabetes, hypogonadotrophic hypogonadism, hypocortisolism
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
Type	disease

Gene product

Name	prohormone convertase (PCSK1)

Remark(s)