Details of Disease | DrugMAP

General Information of Disease (ID: DISRJBUV)

Disease Name	Apparent mineralocorticoid excess
Synonyms	AME 1; AME; Ame1; apparent mineralocorticoid EXCESS; cortisol 11-Beta-ketoreductase deficiency; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; syndrome of apparent mineralocorticoid Excess; cortisol 11-beta-ketoreductase deficiency; apparent mineralocorticoid excess; apparent mineralocorticoid excess syndrome; 11 Beta-hydroxysteroid dehydrogenase type 2 deficiency; APE; Ulick syndrome
Definition	Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
Disease Hierarchy	DISPGGVL: Syndromic dyslipidemia DISFS818: Adrenal gland disorder DISHIDRG: Steroid inherited metabolic disorder DISRJBUV: Apparent mineralocorticoid excess
Disease Identifiers	MONDO ID MONDO_0009025 MESH ID D043204 UMLS CUI C0342488 OMIM ID 218030 MedGen ID 90983 Orphanet ID 320 SNOMED CT ID 237770005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSD11B2	TT9H85R	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HSD11B2	DEDH7FP	Strong	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSD11B2	OTHF4H9U	Strong	Autosomal recessive	[2]
KNSTRN	OTYA7UXS	Strong	Genetic Variation	[3]
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References

1	Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.Orphanet J Rare Dis. 2019 Feb 13;14(1):41. doi: 10.1186/s13023-018-0981-5.
2	Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. Hypertension. 2003 Aug;42(2):123-9. doi: 10.1161/01.HYP.0000083340.57063.35. Epub 2003 Jul 14.
3	The role of the 11beta-hydroxysteroid dehydrogenase type 2 in human hypertension.J Hypertens. 2000 Mar;18(3):241-8. doi: 10.1097/00004872-200018030-00001.