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.
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
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
Search interest in ARMC5
Potential gene panels for ARMC5 gene
Cancer Sequencing Panel with CNV Detection Panel
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 panelPrimary Macronodular Adrenal Hyperplasia via ARMC5 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ARMC5 gene.
More info about this panelARMC5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARMC5 gene.
More info about this panelCongenital Adrenal Hyperplasia Panel Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NTF3 HLX-AS1 CNNM2 SON PGR LAMB3 ANKK1