Primary pigmented nodular adrenocortical disease

General Information (adopted from Orphanet):

Synonyms, Signs: PPNAD
Number of Symptoms 32
OrphanetNr: 189439
OMIM Id: 610475
610489
614190
ICD-10: E24.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia
 -Rare endocrine disease
Rare genetic adrenal disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000311) Round face 104 / 7739
2
 (HPO:0001268) Mental deterioration 88 / 7739
3
 (HPO:0000716) Depression 99 / 7739
4
 (HPO:0001575) Mood changes 7 / 7739
5
 (HPO:0000713) Agitation 18 / 7739
6
 (HPO:0000709) Psychosis 61 / 7739
7
 (HPO:0000739) Anxiety 67 / 7739
8
 (HPO:0003118) Increased circulating cortisol level 3 / 7739
9
 (HPO:0002920) Decreased circulating ACTH level 3 / 7739
10
 (HPO:0000819) Diabetes mellitus Frequent [Orphanet] 131 / 7739
11
 (HPO:0000834) Abnormality of the adrenal glands Very frequent [Orphanet] 14 / 7739
12
 (HPO:0008221) Adrenal hyperplasia Very frequent [Orphanet] 24 / 7739
13
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
14
 (HPO:0003466) Paradoxical increased cortisol secretion on dexamethasone suppression test 3 / 7739
15
 (HPO:0001579) Primary hypercorticolism 5 / 7739
16
 (HPO:0001580) Pigmented micronodular adrenocortical disease 4 / 7739
17
 (HPO:0000939) Osteoporosis 129 / 7739
18
 (HPO:0002808) Kyphosis 289 / 7739
19
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
20
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
21
 (HPO:0000938) Osteopenia 138 / 7739
22
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
23
 (HPO:0001956) Truncal obesity Frequent [Orphanet] 39 / 7739
24
 (HPO:0000978) Bruising susceptibility 123 / 7739
25
 (HPO:0001065) Striae distensae Frequent [Orphanet] 26 / 7739
26
 (HPO:0000963) Thin skin Frequent [Orphanet] 96 / 7739
27
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
28
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
29
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
30
 (HPO:0003198) Myopathy Occasional [Orphanet] 151 / 7739
31
 (HPO:0003674) Onset 32 / 7739
32
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: