Pigmented Nodular Adrenocortical Disease, Primary, 1; Ppnad1

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 micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

Genes related to Pigmented Nodular Adrenocortical Disease, Primary, 1; Ppnad1

PRKAR1A

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Clinical Features

Top most frequent phenotypes and symptoms related to Pigmented Nodular Adrenocortical Disease, Primary, 1; Ppnad1

Neoplasm
Hypertension
Kyphosis
Obesity
Depressivity
Osteoporosis
Cerebral cortical atrophy
Osteopenia
Carcinoma
Anxiety

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Pigmented Nodular Adrenocortical Disease, Primary, 1; Ppnad1 Is also known as pigmented micronodular adrenocortical disease, primary, 1, cushing syndrome, adrenal, due to ppnad1, adrenocortical nodular dysplasia, primary.

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.

Pigmented Nodular Adrenocortical Disease, Primary, 1; Ppnad1 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 100 %
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 100 %
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 100 %
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 100 %
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 100 %
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 100 %
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 100 %
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 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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