Pigmented Nodular Adrenocortical Disease, Primary, 4; Ppnad4

Description

Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).

Clinical Features

Top most frequent phenotypes and symptoms related to Pigmented Nodular Adrenocortical Disease, Primary, 4; Ppnad4

  • Muscle weakness
  • Hypertension
  • Obesity
  • Depressivity
  • Alopecia
  • Osteoporosis
  • Diabetes mellitus
  • Osteopenia
  • Proximal muscle weakness
  • Bruising susceptibility

And another 15 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, 4; Ppnad4 Is also known as chromosome 19p13 duplication syndrome, cushing syndrome, adrenal, due to ppnad4.

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, 4; Ppnad4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PRKACA.

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PRKACA
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

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Specificity
1 %
Genes
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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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