Details of Disease | DrugMAP

General Information of Disease (ID: DISOXVFG)

Disease Name	Orthostatic hypotension 1
Synonyms	dopamine beta hydroxylase deficiency; dopamine BETA-HYDROXYLASE deficiency, congenital; norepinephrine deficiency; noradrenaline deficiency; orthostatic hypotension 1, due to DBH deficiency; congenital dopamine beta-hydroxylase deficiency; dopamine beta-hydroxylase deficiency
Definition	A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.
Disease Hierarchy	DIS5OMQ5: Inherited orthostatic hypotension DISH38WY: Disorder of catecholamine synthesis DISOXVFG: Orthostatic hypotension 1
Disease Identifiers	MONDO ID MONDO_0009123 UMLS CUI C4746777 OMIM ID 223360 MedGen ID 1648402 Orphanet ID 230

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DBH	TTYIP79	Strong	Autosomal recessive	[1]
DBH	TTYIP79	Strong	CausalMutation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DBH	OTC6I2SP	Strong	Autosomal recessive	[1]
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References

1	Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. Am J Med Genet. 2002 Mar 1;108(2):140-7.
2	Hyperinsulinemia and Insulin Resistance in Dopamine -Hydroxylase Deficiency.J Clin Endocrinol Metab. 2017 Jan 1;102(1):10-14. doi: 10.1210/jc.2016-3274.