ACTH-independent macronodular adrenal hyperplasia

General Information (adopted from Orphanet):

Synonyms, Signs: CUSHING SYNDROME, ADRENAL, DUE TO AIMAH
ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA
ACTH-INDEPENDENT CUSHING SYNDROME
AIMAH
adrenocorticotropic hormone-independent macronodular adrenal hyperplasia
corticotropin-independent macronodular adrenal hyperplasia
Number of Symptoms 39
OrphanetNr: 189427
OMIM Id: 219080
ICD-10: E24.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[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

Symptom Information: Sort by abundance 

1
 (HPO:0000787) Nephrolithiasis Frequent [Orphanet] 78 / 7739
2
 (HPO:0000858) Menstrual irregularities Frequent [Orphanet] 42 / 7739
3
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
4
 (HPO:0002858) Meningioma Occasional [Orphanet] 22 / 7739
5
 (HPO:0001268) Mental deterioration 88 / 7739
6
 (HPO:0000739) Anxiety 67 / 7739
7
 (HPO:0000716) Depression 99 / 7739
8
 (HPO:0001575) Mood changes 7 / 7739
9
 (HPO:0000709) Psychosis 61 / 7739
10
 (HPO:0000713) Agitation 18 / 7739
11
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
12
 (HPO:0000819) Diabetes mellitus Frequent [Orphanet] 131 / 7739
13
 (HPO:0002920) Decreased circulating ACTH level 3 / 7739
14
 (HPO:0008231) Macronodular adrenal hyperplasia 2 / 7739
15
 (HPO:0003118) Increased circulating cortisol level 3 / 7739
16
 (HPO:0001578) Hypercortisolism Very frequent [Orphanet] 17 / 7739
17
 (HPO:0001579) Primary hypercorticolism 5 / 7739
18
 (HPO:0008221) Adrenal hyperplasia Very frequent [Orphanet] 24 / 7739
19
 (HPO:0000938) Osteopenia 138 / 7739
20
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
21
 (HPO:0000939) Osteoporosis 129 / 7739
22
 (HPO:0002808) Kyphosis 289 / 7739
23
 (HPO:0001956) Truncal obesity Very frequent [Orphanet] 39 / 7739
24
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
25
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
26
 (HPO:0000978) Bruising susceptibility Frequent [Orphanet] 123 / 7739
27
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
28
 (HPO:0001065) Striae distensae 26 / 7739
29
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
30
 (HPO:0002664) Neoplasm 111 / 7739
31
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
32
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
33
 (OMIM) Decreased serum ACTH 3 / 7739
34
 (HPO:0003745) Sporadic 131 / 7739
35
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
36
 (HPO:0003581) Adult onset 117 / 7739
37
 (OMIM) Cortisol does not decrease on dexamethasone suppression test 1 / 7739
38
 (OMIM) Increased serum cortisol 3 / 7739
39
 (OMIM) No progression to cancer 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority ...
Clinical Description OMIM Kirschner et al. (1964) first reported AIMAH in a 40-year-old woman with long-standing Cushing syndrome (Christopoulos et al., 2005).

Findlay et al. (1993) reported a mother and daughter who each presented with clinical features of Cushing ...
Molecular genetics OMIM Fragoso et al. (2003) identified somatic heterozygous mutations in the GNAS1 gene (139320.0009; 139320.0013) in adrenal tissue from 3 unrelated patients with AIMAH. The mutations resulted in constitutive activation of the G-protein. The mutations were not present in ...