Primary Pigmented Nodular Adrenocortical Disease

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Primary Pigmented Nodular Adrenocortical Disease

PRKAR1A
PDE8B
PRKACA
PDE11A

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Clinical Features

Top most frequent phenotypes and symptoms related to Primary Pigmented Nodular Adrenocortical Disease

Short stature
Muscle weakness
Hypertension
Skeletal muscle atrophy
Fatigue
Myopathy
Osteoporosis
Hypogonadism
Diabetes mellitus
Thin skin

And another 6 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE have a estimated prevalence of 0.04 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Primary Pigmented Nodular Adrenocortical Disease Is also known as ppnad, primary pigmented nodular adrenal dysplasia, cushing syndrome, adrenal, due to ppnad3.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Primary Pigmented Nodular Adrenocortical Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Endocrine Cancer Panel. By Baylor Miraca Genetics Laboratories (United States). SDHA, SDHB, SDHC, SDHD, TP53, VHL, CDC73, SDHAF2, TMEM127, MAX, MEN1, PRKAR1A, PTEN, RET Specificity 8 % Genes 25 %
Comprehensive Hereditary Cancer Panel. By Baylor Miraca Genetics Laboratories (United States). RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...) View the complete list with 39 more genes Panel complete gene list RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, SBDS, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, ENG, FH, GATA2, ALK, GPC3, APC, SMAD4, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF2, ATM, PAX5, PMS1, PMS2, PHOX2B, PRF1, PRKAR1A, BARD1, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RET Specificity 2 % Genes 25 %
Inherited Cancer Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127 , (...) View the complete list with 28 more genes Panel complete gene list BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, FH, APC, SMAD4, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, ATM, PMS2, PRKAR1A, BAP1, BARD1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET Specificity 3 % Genes 25 %
VistaSeq Hereditary Cancer Panel. By Molecular Diagnostic Laboratory University of Alberta (Canada). BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, BRIP1, ABRAXAS1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM , (...) View the complete list with 6 more genes Panel complete gene list BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, BRIP1, ABRAXAS1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM, PMS2, PRKAR1A, BARD1, PTEN, RAD51C, RAD51D Specificity 4 % Genes 25 %
Vistaseq Hereditary Cancer Panel Without BRCA. By Molecular Diagnostic Laboratory University of Alberta (Canada). BMPR1A, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, BRIP1, ABRAXAS1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM, PMS2, PRKAR1A , (...) View the complete list with 4 more genes Panel complete gene list BMPR1A, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, BRIP1, ABRAXAS1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM, PMS2, PRKAR1A, BARD1, PTEN, RAD51C, RAD51D Specificity 5 % Genes 25 %
VistaSeq Endrocrine Cancer Panel. By Molecular Diagnostic Laboratory University of Alberta (Canada). SDHB, SDHC, SDHD, TP53, VHL, CDC73, TMEM127, MAX, MEN1, NF1, PRKAR1A, PTEN, RET Specificity 8 % Genes 25 %
Hypoparathyroidism Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). STX16, TBCE, TBX1, CASR, CHD7, FAM111A, CYP24A1, AIRE, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PRKAR1A, PTH Specificity 6 % Genes 25 %
Hypoparathyroidism sequencing panel. By Genetic Services Laboratory University of Chicago (United States). STX16, TBCE, TBX1, CASR, CDH7, FAM111A, CYP24A1, AIRE, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PRKAR1A, PTH Specificity 6 % Genes 25 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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