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Pigmented nodular adrenocortical disease, primary, 2(PPNAD2)

MedGen UID:
355843
Concept ID:
C1864851
Disease or Syndrome
Synonyms: CUSHING SYNDROME, ADRENAL, DUE TO PPNAD2; PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2
 
Gene (location): PDE11A (2q31.2)
 
Monarch Initiative: MONDO:0012505
OMIM®: 610475

Definition

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene. [from MONDO]

Clinical features

From HPO
Ovarian cyst
MedGen UID:
14540
Concept ID:
C0029927
Disease or Syndrome
The presence of one or more cysts of the ovary.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Truncal obesity
MedGen UID:
1637490
Concept ID:
C4551560
Finding
Obesity located preferentially in the trunk of the body as opposed to the extremities.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Psychotic disorder
MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.
Agitation
MedGen UID:
88447
Concept ID:
C0085631
Sign or Symptom
A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others.
Emotional lability
MedGen UID:
39319
Concept ID:
C0085633
Mental or Behavioral Dysfunction
Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Pancreatitis
MedGen UID:
14586
Concept ID:
C0030305
Disease or Syndrome
The presence of inflammation in the pancreas.
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
Striae distensae
MedGen UID:
57541
Concept ID:
C0152459
Acquired Abnormality
Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Pigmented micronodular adrenocortical disease
MedGen UID:
368901
Concept ID:
C1968851
Finding
Paradoxical increased cortisol secretion on dexamethasone suppression test
MedGen UID:
369358
Concept ID:
C1968855
Finding
Increased circulating cortisol level
MedGen UID:
871175
Concept ID:
C4025651
Finding
Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
Primary hypercortisolism
MedGen UID:
892570
Concept ID:
C4025760
Disease or Syndrome
Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.
Decreased circulating ACTH concentration
MedGen UID:
1841520
Concept ID:
C5826343
Finding
The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.

Recent clinical studies

Etiology

Tirosh A, Lodish MB, Papadakis GZ, Lyssikatos C, Belyavskaya E, Stratakis CA
Horm Metab Res 2016 Sep;48(10):677-681. Epub 2016 Sep 19 doi: 10.1055/s-0042-115644. PMID: 27643448Free PMC Article
Xu Y, Rui W, Qi Y, Zhang C, Zhao J, Wang X, Wu Y, Zhu Q, Shen Z, Ning G, Zhu Y
World J Surg 2013 Jul;37(7):1626-32. doi: 10.1007/s00268-013-2059-9. PMID: 23592061

Diagnosis

Navarro Moreno C, Delestienne A, Marbaix E, Aydin S, Hörtnagel K, Lechner S, Sznajer Y, Beauloye V, Maiter D, Lysy PA
Horm Res Paediatr 2018;89(6):423-433. Epub 2018 Jun 15 doi: 10.1159/000488761. PMID: 29909407
Tirosh A, Lodish MB, Papadakis GZ, Lyssikatos C, Belyavskaya E, Stratakis CA
Horm Metab Res 2016 Sep;48(10):677-681. Epub 2016 Sep 19 doi: 10.1055/s-0042-115644. PMID: 27643448Free PMC Article
Xu Y, Rui W, Qi Y, Zhang C, Zhao J, Wang X, Wu Y, Zhu Q, Shen Z, Ning G, Zhu Y
World J Surg 2013 Jul;37(7):1626-32. doi: 10.1007/s00268-013-2059-9. PMID: 23592061

Prognosis

Tirosh A, Lodish MB, Papadakis GZ, Lyssikatos C, Belyavskaya E, Stratakis CA
Horm Metab Res 2016 Sep;48(10):677-681. Epub 2016 Sep 19 doi: 10.1055/s-0042-115644. PMID: 27643448Free PMC Article
Xu Y, Rui W, Qi Y, Zhang C, Zhao J, Wang X, Wu Y, Zhu Q, Shen Z, Ning G, Zhu Y
World J Surg 2013 Jul;37(7):1626-32. doi: 10.1007/s00268-013-2059-9. PMID: 23592061
Tung SC, Hwang DY, Yang JW, Chen WJ, Lee CT
Endocr J 2012;59(9):823-30. Epub 2012 Jun 20 doi: 10.1507/endocrj.ej12-0040. PMID: 22785148

Clinical prediction guides

Tirosh A, Lodish MB, Papadakis GZ, Lyssikatos C, Belyavskaya E, Stratakis CA
Horm Metab Res 2016 Sep;48(10):677-681. Epub 2016 Sep 19 doi: 10.1055/s-0042-115644. PMID: 27643448Free PMC Article

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