PDE11A gene related symptoms and diseases
All the information presented here about the PDE11A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PDE11A gene
Symptoms // Phenotype | % Cases |
---|---|
Pigmented micronodular adrenocortical disease | Very Common - Between 80% and 100% cases |
Thin skin | Very Common - Between 80% and 100% cases |
Hypertension | Very Common - Between 80% and 100% cases |
Adrenal hyperplasia | Very Common - Between 80% and 100% cases |
Osteoporosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PDE11A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Increased circulating cortisol level
- Striae distensae
Not very common - Between 30% and 50% cases
- Bruising susceptibility
- Round face
- Agitation
- Psychosis
- Anxiety
- Truncal obesity
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PDE11A gene
Here you will find a list of rare diseases related to the PDE11A. 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, 2; PPNAD2
Alternate names
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Is also known as cushing syndrome, adrenal, due to ppnad2, pigmented micronodular adrenocortical disease, primary, 2
Most common symptoms of PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2
- Hypertension
- Kyphosis
- Depressivity
- Osteoporosis
- Osteopenia
More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2
SOURCES: OMIM
Search interest in PDE11A
Potential gene panels for PDE11A gene
PDE11A. Secuenciación completa Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PDE11A gene.
More info about this panelPrimary pigmented nodular adrenocortical disease type 2 (sequence analysis of PDE11A gene) Panel
By CGC Genetics
This panel specifically test the PDE11A gene.
More info about this panelPrimary Pigmented Nodular Adrenocortical Disease via PDE11A Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the PDE11A gene.
More info about this panelPIGMENTED NODULAR ADRENOCORTICAL DISEASE Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases PIGMENTED NODULAR ADRENOCORTICAL DISEASE that also includes the following genes: PDE11A PDE8B
More info about this panelPDE11A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PDE11A gene.
More info about this panelPIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Panel
By Bioarray
This panel specifically test the PDE11A gene.
More info about this panelPrimary Pigmented Nodular Adrenocortical Disease Type 2 , Sequencing PDE11A Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PDE11A gene.
More info about this panelPrimary Pigmented Nodular Adrenocortical Disease , Panel Massive Sequencing (NGS) PDE11A and PDE8B Genes Panel
By Reference Laboratory Genetics Primary Pigmented Nodular Adrenocortical Disease , Panel Massive Sequencing (NGS) PDE11A and PDE8B Genes that also includes the following genes: PDE11A PDE8B
More info about this panelCEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
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