Format

Send to:

Choose Destination

Pigmented nodular adrenocortical disease, primary, 1(PPNAD1)

MedGen UID:
400627
Concept ID:
C1864846
Disease or Syndrome
Synonyms: ADRENOCORTICAL NODULAR DYSPLASIA, PRIMARY; Carney Complex; CUSHING SYNDROME, ADRENAL, DUE TO PPNAD1; PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): PRKAR1A (17q24.2)
OMIM®: 610489

Definition

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; 160980), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical Disease See also PPNAD2 (610475), caused by mutation in the PDE11A gene (604961) on chromosome 2q31; PPNAD3 (614190), caused by mutation in the PDE8B gene (603390) on chromosome 5q13; and PPNAD4 (615830), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (601639). [from GTR]

Additional description

From OMIM
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; 160980), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical Disease See also PPNAD2 (610475), caused by mutation in the PDE11A gene (604961) on chromosome 2q31; PPNAD3 (614190), caused by mutation in the PDE8B gene (603390) on chromosome 5q13; and PPNAD4 (615830), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (601639).  http://www.omim.org/entry/610489

Clinical features

Pigmented micronodular adrenocortical disease
MedGen UID:
368901
Concept ID:
C1968851
Finding
Primary hypercorticolism
MedGen UID:
368902
Concept ID:
C1968852
Finding
Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.
Paradoxical increased cortisol secretion on dexamethasone suppression test
MedGen UID:
369358
Concept ID:
C1968855
Finding
Decreased circulating ACTH level
MedGen UID:
871192
Concept ID:
C4025669
Finding
An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure that is abnormally high.
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.
Truncal obesity
MedGen UID:
90229
Concept ID:
C0311277
Finding
A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as diabetes, hypertension and METABOLIC SYNDROME X.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure.
Psychosis
MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
Agitation
MedGen UID:
88447
Concept ID:
C0085631
Sign or Symptom
A state of restlessness associated with unpleasant feelings of irritability and tension. Causes include pain, stress, fever, alcohol and nicotine withdrawal, cocaine and hallucinogenic drugs use, depression, bipolar disorders, and schizophrenia.
Mood swings
MedGen UID:
39319
Concept ID:
C0085633
Mental or Behavioral Dysfunction
A condition of frequent mood changes associated with excessive emotional reactions.
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Pathologic Function
Loss of previously present mental abilities, generally in adults.
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.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Abnormally increased curvature of the thoracic portion of the spine.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value.
Generalized osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).
Round face
MedGen UID:
341560
Concept ID:
C1856468
Finding
The facial appearance is more circular than usual as viewed from the front.
Striae distensae
MedGen UID:
57541
Concept ID:
C0152459
Acquired Abnormality
Linear dermal scars accompanied by epidermal atrophy that affects skin that is subjected to continuous stretching. They usually do not cause any significant medical problems, only cosmetic problems.
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
Primary hypercorticolism
MedGen UID:
368902
Concept ID:
C1968852
Finding
Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.
Paradoxical increased cortisol secretion on dexamethasone suppression test
MedGen UID:
369358
Concept ID:
C1968855
Finding
Decreased circulating ACTH level
MedGen UID:
871192
Concept ID:
C4025669
Finding
An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.

Term Hierarchy

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: 27643448
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

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: 27643448
Spaniol A, Mulla BM, Daily JG, Ennen CS
Obstet Gynecol 2014 Aug;124(2 Pt 2 Suppl 1):426-8. doi: 10.1097/AOG.0000000000000340. PMID: 25004313
Poukoulidou T, Maiter D, Bertherat J, Beauloye V
J Pediatr Endocrinol Metab 2014 Sep;27(9-10):1005-9. doi: 10.1515/jpem-2014-0018. PMID: 24859511
Espiard S, Bertherat J
Front Horm Res 2013;41:50-62. Epub 2013 Mar 19 doi: 10.1159/000345669. PMID: 23652670
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: 27643448
Espiard S, Bertherat J
Front Horm Res 2013;41:50-62. Epub 2013 Mar 19 doi: 10.1159/000345669. PMID: 23652670
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 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: 27643448
Poukoulidou T, Maiter D, Bertherat J, Beauloye V
J Pediatr Endocrinol Metab 2014 Sep;27(9-10):1005-9. doi: 10.1515/jpem-2014-0018. PMID: 24859511
Espiard S, Bertherat J
Front Horm Res 2013;41:50-62. Epub 2013 Mar 19 doi: 10.1159/000345669. PMID: 23652670

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center