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.

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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

SOURCES: ORPHANET OMIM

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


Potential gene panels for PDE11A gene

PDE11A. Secuenciación completa Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PDE11A gene.

More info about this panel

Primary pigmented nodular adrenocortical disease type 2 (sequence analysis of PDE11A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PDE11A gene.

More info about this panel

Primary Pigmented Nodular Adrenocortical Disease via PDE11A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PDE11A gene.

More info about this panel

PIGMENTED NODULAR ADRENOCORTICAL DISEASE Panel

Spain.

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 panel

PDE11A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PDE11A gene.

More info about this panel

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Panel

Spain.

By Bioarray

This panel specifically test the PDE11A gene.

More info about this panel

Primary Pigmented Nodular Adrenocortical Disease Type 2 , Sequencing PDE11A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PDE11A gene.

More info about this panel

Primary Pigmented Nodular Adrenocortical Disease , Panel Massive Sequencing (NGS) PDE11A and PDE8B Genes Panel

Spain.

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 panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

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

More info about this panel


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