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GENATLAS PHENOTYPE

last update : 15-05-2020

Symbol	LDHAD
Location	11p15.1
Name	lactate dehydrogenase-a deficiency
Other name(s)	glycogen storage disease XI
Corresponding gene	LDHA
Other symbol(s)	GSD11
Main clinical features	exertional myoglobinuria and easy fatigue, and characteristic erythematosquamous skin lesions, myoglobinuria, exertional and/or excessive fatigability also characteristic nonpruritic erythematosquamous skin lesions on the extensor surfaces of the extremities
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
	dermatology
Type	disease

Gene product

Name	lactate dehydrogenase A

Remark(s)