Apparent Mineralocorticoid Excess

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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.

Genes related to Apparent Mineralocorticoid Excess

HSD11B2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Apparent Mineralocorticoid Excess

Short stature
Growth delay
Failure to thrive
Hypertension
Renal insufficiency
Retinopathy
Stroke
Small for gestational age
Stage 5 chronic kidney disease
Ventricular hypertrophy

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Apparent Mineralocorticoid Excess Is also known as ame1, 11-beta-hydroxysteroid dehydrogenase deficiency type 2, ulick syndrome, cortisol 11-beta-ketoreductase deficiency.

Researches and researchers

Doctors, researchs, and experts related to Apparent Mineralocorticoid Excess extracted from public data.

Apparent Mineralocorticoid Excess Experts map

Current Researchs and researchers

NEW YORK — Dr Maria I NEW
Manager of registry - Coordinator of research network
- Institution/s:
  — The Mount Sinai School of Medicine
- Research area/topic::
  RGSDC: Rare Genetic Steroid Disorders Consortium

Apparent Mineralocorticoid Excess Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Endocrine Hypertension (HSD11B2) Evaluation. By Athena Diagnostics Inc (United States). HSD11B2 Specificity 100 % Genes 100 %
HSD11B2 DNA Sequencing Test. By Athena Diagnostics Inc (United States). HSD11B2 Specificity 100 % Genes 100 %
Monogenic Hypertension Evaluation. By Athena Diagnostics Inc (United States). SCNN1B, SCNN1G, CYP11B1, HSD11B2 Specificity 25 % Genes 100 %
ExomePLUS Electrolyte & Kidney Stone. By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...) View the complete list with 28 more genes Panel complete gene list SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS, CUL3, CYP11B2, CYP24A1, ENPP1, AGXT, FAH, FGF23, GALNT3, GATA3, GCM2, GNA11, GNAS, GRHPR, HPRT1, HSD11B2, AP2S1, KCNJ1, APRT, AQP2, KLHL3, NR3C2, OCRL, ATP6V1B1, ATP6V0A4, PHEX, AVP, AVPR2, PTH Specificity 3 % Genes 100 %
HSD11B2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). HSD11B2 Specificity 100 % Genes 100 %
Apparent mineralocorticoid excess (sequence analysis of HSD11B2 gene). By CGC Genetics (Portugal). HSD11B2 Specificity 100 % Genes 100 %
Apparent mineralocorticoid excess. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). HSD11B2 Specificity 100 % Genes 100 %
Pseudoprimary hyperaldosteronism. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). HSD11B2 Specificity 100 % Genes 100 %