Primary Pigmented Nodular Adrenocortical Disease

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).

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
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
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
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
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 %

You can get up to 118 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 CILIARY DYSKINESIA, PRIMARY, 29; CILD29 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U; CMT2U SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2 MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41 BLOOD GROUP, LANGEREIS SYSTEM; LAN