Acth-independent Macronodular Adrenal Hyperplasia 2; Aimah2

Description

ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013).

Clinical Features

Phenotypes and symptoms related to Acth-independent Macronodular Adrenal Hyperplasia 2; Aimah2

  • Neoplasm
  • Hypertension
  • Depressivity
  • Osteoporosis
  • Round face
  • Hyperglycemia
  • Increased circulating cortisol level
  • Adrenal hyperplasia
  • Abdominal obesity
  • Macronodular adrenal hyperplasia

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

Acth-independent Macronodular Adrenal Hyperplasia 2; Aimah2 Is also known as primary macronodular adrenal hyperplasia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Acth-independent Macronodular Adrenal Hyperplasia 2; Aimah2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, SRP72, STK11, EPCAM, TERC, TERT, TP53, TRIP13, TSC1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Primary Macronodular Adrenal Hyperplasia via ARMC5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ARMC5
Specificity
100 %
Genes
100 %
ARMC5.

By Fulgent Genetics Fulgent Genetics (United States).

ARMC5
Specificity
100 %
Genes
100 %
Congenital Adrenal Hyperplasia Panel.

By Blueprint Genetics (Finland).

STAR, ARMC5, CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, PRKAR1A
Specificity
12 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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