PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1

General Information (adopted from Orphanet):

Synonyms, Signs: PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
PPNAD1
ADRENOCORTICAL NODULAR DYSPLASIA, PRIMARY
CUSHING SYNDROME, ADRENAL, DUE TO PPNAD1
Number of Symptoms 26
OrphanetNr:
OMIM Id: 610489
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000311) Round face 104 / 7739
2
(HPO:0000709) Psychosis 61 / 7739
3
(HPO:0001268) Mental deterioration 88 / 7739
4
(HPO:0001575) Mood changes 7 / 7739
5
(HPO:0000713) Agitation 18 / 7739
6
(HPO:0000739) Anxiety 67 / 7739
7
(HPO:0000716) Depression 99 / 7739
8
(HPO:0001578) Hypercortisolism 17 / 7739
9
(HPO:0001580) Pigmented micronodular adrenocortical disease 4 / 7739
10
(HPO:0003118) Increased circulating cortisol level 3 / 7739
11
(HPO:0003466) Paradoxical increased cortisol secretion on dexamethasone suppression test 3 / 7739
12
(HPO:0001579) Primary hypercorticolism 5 / 7739
13
(HPO:0002920) Decreased circulating ACTH level 3 / 7739
14
(HPO:0000938) Osteopenia 138 / 7739
15
(HPO:0002808) Kyphosis 289 / 7739
16
(HPO:0000939) Osteoporosis 129 / 7739
17
(HPO:0001956) Truncal obesity 39 / 7739
18
(HPO:0000963) Thin skin 96 / 7739
19
(HPO:0000978) Bruising susceptibility 123 / 7739
20
(HPO:0001065) Striae distensae 26 / 7739
21
(HPO:0000822) Hypertension 224 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(OMIM) Adrenal glands may be normal, atrophic, or slightly enlarged 2 / 7739
24
(OMIM) Increased serum cortisol 3 / 7739
25
(OMIM) Decreased serum ACTH 3 / 7739
26
(HPO:0003674) Onset 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (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 ...
Clinical Description OMIM Arce et al. (1978) reported 4 sibs with 'familial Cushing syndrome.' Three sibs had onset around adolescence of moon facies, obesity, hypertrichosis, purple striae, and osteoporosis. Skull radiographs showed no enlargement of the sella turcica, and dexamethasone suppression ...
Molecular genetics OMIM Groussin et al. (2002) identified mutations in the PRKAR1A gene (see, e.g., 188830.0009) in 5 unrelated patients with isolated PPNAD who had no clinical signs or symptoms of Carney complex. All of the mutations were predicted to result ...