PRKACA gene related symptoms and diseases
All the information presented here about the PRKACA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PRKACA gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Increased circulating cortisol level | Common - Between 50% and 80% cases |
| Hypertension | Common - Between 50% and 80% cases |
| Muscle weakness | Common - Between 50% and 80% cases |
| Osteoporosis | Common - Between 50% and 80% cases |
| Diabetes mellitus | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with PRKACA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Adrenal hyperplasia
Not very common - Between 30% and 50% cases
- Short stature
- Increased body weight
- Acne
- Emotional lability
- Glucose intolerance
- Ecchymosis
- Fragile skin
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PRKACA gene
Here you will find a list of rare diseases related to the PRKACA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE
Alternate names
PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE Is also known as ppnad, primary pigmented nodular adrenal dysplasia, cushing syndrome, adrenal, due to ppnad3
Description
Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).
Most common symptoms of PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE
- Short stature
- Muscle weakness
- Hypertension
- Skeletal muscle atrophy
- Fatigue
More info about PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4
Alternate names
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 Is also known as chromosome 19p13 duplication syndrome, cushing syndrome, adrenal, due to ppnad4
Description
Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).
Most common symptoms of PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4
- Muscle weakness
- Hypertension
- Obesity
- Depressivity
- Alopecia
More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4
SOURCES: OMIM
FIBROLAMELLAR HEPATOCELLULAR CARCINOMA
Alternate names
FIBROLAMELLAR HEPATOCELLULAR CARCINOMA Is also known as fhcc, fibrolamellar hepatocarcinoma
More info about FIBROLAMELLAR HEPATOCELLULAR CARCINOMA
SOURCES: ORPHANET
Search interest in PRKACA
Potential gene panels for PRKACA gene
PRKACA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRKACA gene.
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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