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GENATLAS PHENOTYPE

last update : 02-11-2022

Symbol	ORTHYP1
Location	9q34.2
Name	orthostatic hypotension 1, due to DBH deficiency
Other name(s)	norepinephrine deficiency noradrenaline deficiency
Corresponding gene	DBH
Other symbol(s)	DBH
Main clinical features	profound autonomic failure; severe orthostatic hypotension, ptosis, nasal stuffiness, impaired ejaculation, and a neonatal history of delayed eye opening biochemical features include undetectable tissue and circulating levels of norepinephrine and epinephrine, elevated levels of dopamine, and undetectable levels of dopamine beta-hydroxylase
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

. a pharmacological chaperone, glycerol, significantly rescued defective trafficking of mutant DBH proteins , and disease could be treated by a pharmacological chaperone(s) (PMID: 21209083)))