Apparent Mineralocorticoid Excess

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.

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



Mendelian

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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
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 %

We have 20 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4 NEPHROTIC SYNDROME, TYPE 11; NPHS11 NOONAN SYNDROME 1; NS1 CATARACT 1, MULTIPLE TYPES; CTRCT1

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