ARMC5 gene related symptoms and diseases

All the information presented here about the ARMC5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ARMC5 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Round face Very Common - Between 80% and 100% cases
Hypertension Very Common - Between 80% and 100% cases
Macronodular adrenal hyperplasia Very Common - Between 80% and 100% cases
Depressivity Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ARMC5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Osteoporosis
  • Abdominal obesity
  • Increased circulating cortisol level
  • Not very common - Between 30% and 50% cases

  • Meningioma
  • Pituitary adenoma
  • Alkalosis
  • Vertebral compression fractures
  • Ecchymosis

And 40 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ARMC5 gene

Here you will find a list of rare diseases related to the ARMC5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA


Alternate names

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary, primary bilateral macronodular adrenal hyperplasia

Description

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

Most common symptoms of CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

SOURCES: ORPHANET OMIM

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2


Alternate names

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2 Is also known as primary macronodular adrenal hyperplasia

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).

Most common symptoms of ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2

  • Neoplasm
  • Hypertension
  • Depressivity
  • Osteoporosis
  • Round face


More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2

SOURCES: OMIM


Potential gene panels for ARMC5 gene

Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Primary Macronodular Adrenal Hyperplasia via ARMC5 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ARMC5 gene.

More info about this panel

ARMC5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ARMC5 gene.

More info about this panel

Congenital Adrenal Hyperplasia Panel Panel

Finland.

By Blueprint Genetics Congenital Adrenal Hyperplasia Panel that also includes the following genes: STAR ARMC5 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD3B2 POR PRKAR1A

More info about this panel


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