AIMAH1
MCID: ACT092
MIFTS: 56

Acth-Independent Macronodular Adrenal Hyperplasia (AIMAH1)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Acth-Independent Macronodular Adrenal Hyperplasia

MalaCards integrated aliases for Acth-Independent Macronodular Adrenal Hyperplasia:

Name: Acth-Independent Macronodular Adrenal Hyperplasia 56 12 52 13 15 71
Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia 56 12 52 73
Corticotropin-Independent Macronodular Adrenal Hyperplasia 56 12 52 73
Acth-Independent Macronodular Adrenocortical Hyperplasia 56 12 52 73
Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 12 58 17
Massive Macronodular Adrenocortical Disease 12 52
Primary Macronodular Adrenal Hyperplasia 12 52
Aimah1 56 73
Aimah 12 52
Mmad 12 52
Acth-Independent Macronodular Adrenal Hyperplasia 2 71
Acth-Independent Macronodular Adrenal Hyperplasia 1 73
Primary Bilateral Macronodular Adrenal Hyperplasia 58
Cushing Syndrome, Adrenal, Due to Aimah 56
Adrenal Cushing Syndrome Due to Aimah 73
Acth-Independent Cushing Syndrome 73

Characteristics:

Orphanet epidemiological data:

58
cushing syndrome due to macronodular adrenal hyperplasia
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

56
Inheritance:
somatic mutation

Miscellaneous:
adult onset (40 to 60 years old)
variable expressivity, some patients may be clinically asymptomatic


HPO:

31
acth-independent macronodular adrenal hyperplasia:
Inheritance autosomal dominant inheritance somatic mutation sporadic
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


Summaries for Acth-Independent Macronodular Adrenal Hyperplasia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 189427 Definition A rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. Epidemiology Prevalence of endogenous CS is estimated at 1/26,000 and Cushing syndrome due to macronodular adrenal hyperplasia (CSMAH) represents less than 1% of the cases. Clinical description The disease presents a bimodal age distribution with a rare subset presenting in the first years of life, particularly associated to McCune-Albright syndrome (MAS; see this term). Most patients present in their 5th or 6th decade and the disease might be more prevalent in females. CSMAH most frequently presents as clinical or subclinical CS and signs usually become apparent only after several decades of life. However, in some patients the adrenal lesions are found incidentally, in the process of radiological investigation of another disease. The adrenal glands can be massively enlarged bilaterally with the presence of numerous macronodules; however diffuse adrenal enlargement without nodules has been described. Etiology The exact etiology is unknown but the adrenal overgrowth seen in CSMAH may be due to the expression of aberrant membrane receptors found in the adrenal cortex that regulate cortisol secretion and which are stimulated by gastric inhibitory polypeptide (GIP), vasopressin, serotonin, catecholamines and luteinizing hormone (LH). Diagnostic methods Diagnosis is based on the clinical picture of CS, the demonstration of ACTH-independent hypercortisolism (decreased levels of ACTH in plasma, non suppressible cortisol level after dexamethasone administration), and bilateral adrenal nodular enlargement on radiological imaging . Diagnosis is often difficult because hypercortisolism usually develops slowly over years, may be cyclical and is often associated with subtle CS. Radiological imaging is helpful, but occasionally nodularity is indistinguishable from that in normal elderly persons. Diagnosis can be confirmed by histological examination. Hormonal investigations can demonstrate aberrant receptor expression with abnormal stimulation of cortisol secretion by various hormones such as GIP in cases of food-dependent CS and gonadotropin-releasing hormone (GnRH) in cases of LH-dependent CS. Differential diagnosis Differential diagnoses include other causes of ACTH-independent CS (adrenal adenoma and carcinoma), ACTH-dependent CS including pituitary (Cushing disease) or extra-pituitary tumors (ectopic ACTH secretion; see these terms), polycystic ovary syndrome and metabolic syndrome. Genetic counseling CSMAH is most often reported as sporadic but there are increasing reports of familial cases with autosomal dominant transmission. As the genetics of this disease are largely unknown genetic counseling is not yet possible. Management and treatment Treatment can be medical if aberrant adrenal receptors are identified and can be blocked (i.e. with propranolol, somatostatin or GnRH analogs). If the blockade is not possible, treatment will be chosen depending on the level of steroid excess. Unilateral adrenalectomy can be proposed for patients with a moderate increase in hormone production, while bilateral adrenalectomy is recommended for patients with significant overproduction. After bilateral adrenalectomy, glucocorticoid and mineralocorticoid replacement is required. Prognosis Prognosis after treatment is good but quality of life may be affected due to the long-term effects of hypercortisolemia. Without treatment the disease is life-threatening as in the case of manifest hypercortisolism. In cases of moderate hypercortisolism, long-term morbidity is due to the increased cardiovascular and metabolic risk factors associated with mild CS. Visit the Orphanet disease page for more resources.

MalaCards based summary : Acth-Independent Macronodular Adrenal Hyperplasia, also known as adrenocorticotropic hormone-independent macronodular adrenal hyperplasia, is related to acth-independent macronodular adrenal hyperplasia 1 and impotence, and has symptoms including agitation and generalized fatigue. An important gene associated with Acth-Independent Macronodular Adrenal Hyperplasia is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. The drugs Heparin and Streptokinase have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, pituitary and cortex, and related phenotypes are failure to thrive and round face

Disease Ontology : 12 A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol.

OMIM : 56 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 of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see 610489), which is often a component of the Carney complex (160980) and associated with mutations in the PRKAR1A gene (188830) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). See also ACTH-independent Cushing syndrome (615830) due to somatic mutation in the PRKACA gene (601639). Cushing 'disease' (219090) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. (219080)

UniProtKB/Swiss-Prot : 73 ACTH-independent macronodular adrenal hyperplasia 1: A rare adrenal defect characterized by multiple, bilateral, non- pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.

Related Diseases for Acth-Independent Macronodular Adrenal Hyperplasia

Diseases in the Acth-Independent Macronodular Adrenal Hyperplasia family:

Acth-Independent Macronodular Adrenal Hyperplasia 2 Acth-Independent Macronodular Adrenal Hyperplasia 1

Diseases related to Acth-Independent Macronodular Adrenal Hyperplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 1 35.4 POMC GNAS
2 impotence 30.8 POMC GNRH1 EDNRA
3 mccune-albright syndrome 30.7 PRKAR1A PDE8B PDE11A GNAS
4 adrenocortical carcinoma, hereditary 30.7 PRKAR1A MIR483 MC2R GNAS
5 hypokalemia 30.6 POMC CRH AVPR2
6 adenoma 30.6 PRKAR1A POMC MC2R GNAS CRH
7 multiple endocrine neoplasia, type i 30.5 PRKAR1A POMC MIR483 GNAS ARMC5
8 pituitary-dependent cushing's disease 30.4 POMC CRH
9 acth-secreting pituitary adenoma 30.4 PRKAR1A POMC CRH
10 adrenal cortical adenoma 30.4 PRKAR1A POMC MIR483 MC2R GIPR
11 acth-independent cushing syndrome 30.3 PRKAR1A PDE8B PDE11A GNAS ARMC5
12 adrenal cortical carcinoma 30.3 PRKAR1A POMC PDE11A MIR483 MC2R ARMC5
13 adrenal adenoma 29.7 PRKAR1A POMC MIR483 MC2R GNAS GIPR
14 conn's syndrome 29.4 PRKAR1A POMC PDE11A MC2R GNRH1 GNAS
15 primary pigmented nodular adrenocortical disease 29.0 PRKX PRKAR1A POMC PDE8B PDE11A MIR483
16 acth-independent macronodular adrenal hyperplasia 2 13.4
17 acth-independent cushing syndrome due to rare cortisol-producing adrenal tumor 12.7
18 pigmented nodular adrenocortical disease, primary, 2 11.6
19 pigmented nodular adrenocortical disease, primary, 1 11.6
20 pigmented nodular adrenocortical disease, primary, 3 11.6
21 pigmented nodular adrenocortical disease, primary, 4 11.6
22 testicular sex cord-stromal neoplasm 10.5 PDE11A GNAS
23 testicular leydig cell tumor 10.5 PDE11A GNAS
24 waterhouse-friderichsen syndrome 10.4 POMC MC2R
25 premenstrual tension 10.4 POMC GNRH1
26 adrenal rest tumor 10.4 POMC MC2R
27 allergic hypersensitivity disease 10.4
28 steroid inherited metabolic disorder 10.3 POMC MC2R GNRH1
29 adrenal hypoplasia, congenital 10.3 POMC MC2R GNRH1
30 hormone producing pituitary cancer 10.3 PRKAR1A POMC GNAS
31 bilateral massive adrenal hemorrhage 10.3
32 corticosteroid-binding globulin deficiency 10.3 POMC MC2R
33 growth hormone secreting pituitary adenoma 10.3 PRKAR1A POMC GNAS
34 breast adenoma 10.3 PRKAR1A PDE8B PDE11A
35 diabetes insipidus, neurohypophyseal 10.3 POMC GNRH1 AVPR2
36 diabetes insipidus, nephrogenic, autosomal 10.3 AVPR2 AVPR1B AVPR1A
37 endocrine gland cancer 10.3
38 hyperinsulinism 10.3
39 insulinoma 10.3
40 nelson syndrome 10.3
41 hypoglycemia 10.3
42 tremor 10.3
43 alacrima, achalasia, and mental retardation syndrome 10.3
44 polycystic kidney disease 10.3
45 glucose intolerance 10.3
46 hemiplegia 10.3
47 infant gynecomastia 10.3
48 gynecomastia 10.3
49 multiple endocrine neoplasia 10.3
50 adrenal cortical adenocarcinoma 10.3

Graphical network of the top 20 diseases related to Acth-Independent Macronodular Adrenal Hyperplasia:



Diseases related to Acth-Independent Macronodular Adrenal Hyperplasia

Symptoms & Phenotypes for Acth-Independent Macronodular Adrenal Hyperplasia

Human phenotypes related to Acth-Independent Macronodular Adrenal Hyperplasia:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
3 truncal obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001956
4 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
5 macronodular adrenal hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008231
6 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
7 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
8 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
9 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
10 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
11 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
12 nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0000787
13 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
14 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
15 menometrorrhagia 58 31 frequent (33%) Frequent (79-30%) HP:0400008
16 meningioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002858
17 kyphosis 31 HP:0002808
18 skeletal muscle atrophy 31 HP:0003202
19 osteopenia 31 HP:0000938
20 anxiety 31 HP:0000739
21 striae distensae 31 HP:0001065
22 neoplasm 31 HP:0002664
23 mental deterioration 31 HP:0001268
24 psychosis 31 HP:0000709
25 agitation 31 HP:0000713
26 decreased circulating acth level 31 HP:0002920
27 mood changes 31 HP:0001575
28 primary hypercortisolism 31 HP:0001579

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
kyphosis

Neurologic Behavioral Psychiatric Manifestations:
anxiety
psychosis
agitation
mood changes
depression

Head And Neck Face:
round face

Skin Nails Hair Skin:
thin skin
easy bruising
striae

Muscle Soft Tissue:
muscle wasting

Neoplasia:
no progression to cancer

Skeletal:
osteoporosis
decreased bone mineral density

Cardiovascular Vascular:
hypertension

Growth Weight:
truncal obesity

Endocrine Features:
macronodular adrenal hyperplasia
cushing syndrome
acth-independent hypercortisolemia
enlarged adrenal glands

Neurologic Central Nervous System:
cognitive decline

Laboratory Abnormalities:
increased serum cortisol
cortisol does not decrease on dexamethasone suppression test
decreased serum acth

Clinical features from OMIM:

219080

UMLS symptoms related to Acth-Independent Macronodular Adrenal Hyperplasia:


agitation, generalized fatigue

GenomeRNAi Phenotypes related to Acth-Independent Macronodular Adrenal Hyperplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HPV16-GFP infection GR00350-A 8.8 AVPR1A CCN5 GNAS

MGI Mouse Phenotypes related to Acth-Independent Macronodular Adrenal Hyperplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 AVPR1A AVPR1B AVPR2 CRH EDNRA GNAS
2 homeostasis/metabolism MP:0005376 10.06 ARMC5 AVPR1A AVPR1B AVPR2 CRH EDNRA
3 endocrine/exocrine gland MP:0005379 10 ARMC5 AVPR1A AVPR1B CRH EDNRA GIPR
4 normal MP:0002873 9.56 AVPR1A CCN5 CRH EDNRA GIP GNAS
5 renal/urinary system MP:0005367 9.23 AVPR2 CRH EDNRA FH GNAS GNRH1

Drugs & Therapeutics for Acth-Independent Macronodular Adrenal Hyperplasia

Drugs for Acth-Independent Macronodular Adrenal Hyperplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
2
Streptokinase Approved, Investigational Phase 3 9002-01-1
3 Fibrinolytic Agents Phase 3
4 Anticoagulants Phase 3
5 Calcium, Dietary Phase 3
6 calcium heparin Phase 3
7
Calcium Nutraceutical Phase 3 7440-70-2 271
8
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
9
Racepinephrine Approved Phase 2 329-65-7 838
10 Adrenocorticotropic Hormone Phase 2
11 Epinephryl borate Phase 2
12
Fluticasone Approved, Experimental Phase 1 90566-53-3 62924
13 Respiratory System Agents Phase 1
14 Anti-Allergic Agents Phase 1
15 Dermatologic Agents Phase 1
16 Anti-Asthmatic Agents Phase 1
17 Bronchodilator Agents Phase 1
18 Anti-Inflammatory Agents Phase 1
19
Ipratropium Approved, Experimental 60205-81-4, 22254-24-6 43232 657309
20
Hydrocortisone Approved, Vet_approved 50-23-7 5754
21
Hydrocortisone acetate Approved, Vet_approved 50-03-3
22 Albuterol
23 Pharmaceutical Solutions
24 PENTA
25 Bromides
26 Hydrocortisone 17-butyrate 21-propionate
27 Hydrocortisone hemisuccinate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Streptokinase Versus Unfractionated Heparin Nebulization in Patients With Severe Acute Respiratory Distress Syndrome (ARDS): A Partially Randomized Controlled Trial Completed NCT03465085 Phase 3 Unfractionated heparin;Streptokinase
2 A Phase II, Open-label, Dose Titration, Multi-center Study to Assess the Safety/Tolerability and Efficacy of Osilodrostat in Patients With All Types of Endogenous Cushing's Syndrome Except Cushing's Disease Completed NCT02468193 Phase 2 Osilodrostat
3 Evaluation of the Sensitivity of Pharmacokinetics to Differences in the Aerodynamic Particle Size Distribution of Three Different Formulations of Fluticasone Propionate Dry Powder Inhalers Completed NCT01966692 Phase 1 Fluticasone Propionate Formulation 1;Fluticasone Propionate Formulation 2;Fluticasone Propionate Formulation 3;Fluticasone Propionate Formulation 3*
4 Administration of Beta-agonistic Drug Using Two Different Nebulizer Technologies: Effects on Lung Mechanics Completed NCT02987036
5 RADIOAEROSSOL PULMONARY DEPOSiTION USING MESH AND JET NEBULIZERS DURING NONINVASIVE VENTILATION IN NORMAL SUBJECTS: A RANDOMIZED CROSSOVER CLINICAL TRIAL Completed NCT01889524
6 The Molecular and Cellular Etiology of ACTH-Independent Adrenal Disease Completed NCT00006278
7 Novel Therapies for Muco-Obstructive Lung Diseases: A Study of Tolerability and MCC Effect of Hypertonic Saline Delivered Via the tPAD in Patients With Chronic Bronchitis Withdrawn NCT02341183

Search NIH Clinical Center for Acth-Independent Macronodular Adrenal Hyperplasia

Genetic Tests for Acth-Independent Macronodular Adrenal Hyperplasia

Anatomical Context for Acth-Independent Macronodular Adrenal Hyperplasia

MalaCards organs/tissues related to Acth-Independent Macronodular Adrenal Hyperplasia:

40
Adrenal Gland, Pituitary, Cortex, Ovary, Adrenal Cortex, Lung, Bone

Publications for Acth-Independent Macronodular Adrenal Hyperplasia

Articles related to Acth-Independent Macronodular Adrenal Hyperplasia:

(show top 50) (show all 120)
# Title Authors PMID Year
1
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 61 56 6
12727968 2003
2
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. 6 56
24855271 2014
3
ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. 6 61
24283224 2013
4
17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia. 56 61
16772351 2006
5
Ectopic expression of vasopressin V1b and V2 receptors in the adrenal glands of familial ACTH-independent macronodular adrenal hyperplasia. 61 56
16343095 2005
6
Clinical and subclinical ACTH-independent macronodular adrenal hyperplasia and aberrant hormone receptors. 61 56
16215323 2005
7
Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators. 61 56
14767469 2004
8
Inherited adrenocorticotropin-independent macronodular adrenal hyperplasia with abnormal cortisol secretion by vasopressin and catecholamines: detection of the aberrant hormone receptors on adrenal gland. 61 56
12624433 2002
9
Are ectopic or abnormal membrane hormone receptors frequently present in adrenal Cushing's syndrome? 56 61
11061496 2000
10
Corticotropin-independent macronodular adrenal hyperplasia: a clinicopathologic correlation. 61 56
9605918 1998
11
Abnormal adrenal and vascular responses to vasopressin mediated by a V1-vasopressin receptor in a patient with adrenocorticotropin-independent macronodular adrenal hyperplasia, Cushing's syndrome, and orthostatic hypotension. 56 61
9253310 1997
12
Familial adrenocorticotropin-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia. 61 56
8380604 1993
13
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia. 6
24905064 2014
14
ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia. 6
24708098 2014
15
Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. 6
24601692 2014
16
Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor? 6
16507630 2006
17
Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. 6
12970318 2003
18
Overexpression of serotonin4 receptors in cisapride-responsive adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia causing Cushing's syndrome. 56
12519861 2003
19
Eutopic overexpression of vasopressin v1a receptor in adrenocorticotropin-independent macronodular adrenal hyperplasia. 56
12466375 2002
20
Adrenocorticotropin-independent macronodular adrenal hyperplasia: an uncommon cause of primary adrenal hypercortisolism. 56
10966714 2000
21
Leuprolide acetate therapy in luteinizing hormone--dependent Cushing's syndrome. 56
10564687 1999
22
Food-dependent Cushing's syndrome: characterization and functional role of gastric inhibitory polypeptide receptor in the adrenals of three patients. 56
9851802 1998
23
Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors. 6
9626141 1998
24
Propranolol therapy for ectopic beta-adrenergic receptors in adrenal Cushing's syndrome. 56
9358140 1997
25
Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. 6
9267696 1997
26
ACTH-independent macronodular adrenocortical hyperplasia (AIMAH): report of two cases and the analysis of steroidogenic activity in adrenal nodules. 56
9152616 1997
27
Food-dependent Cushing's syndrome resulting from abundant expression of gastric inhibitory polypeptide receptors in adrenal adenoma cells. 56
8784063 1996
28
Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients. 6
8766942 1996
29
ACTH independent Cushing's syndrome occurring in siblings. 56
8706318 1996
30
Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. 6
7739708 1995
31
Adrenocorticotropic hormone-independent bilateral adrenocortical macronodular hyperplasia: a case report and immunohistochemical studies. 56
8528359 1994
32
ACTH-independent macronodular adrenocortical hyperplasia: immunohistochemical and in situ hybridization studies of steroidogenic enzymes. 56
8008746 1994
33
Gastric inhibitory polypeptide-dependent cortisol hypersecretion--a new cause of Cushing's syndrome. 56
1325608 1992
34
Food-dependent Cushing's syndrome mediated by aberrant adrenal sensitivity to gastric inhibitory polypeptide. 56
1325609 1992
35
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. 6
1594625 1992
36
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 6
1944469 1991
37
Adrenocorticotropic hormone-independent bilateral adrenocortical macronodular hyperplasia as a distinct subtype of Cushing's syndrome. Enzyme histochemical and ultrastructural study of four cases with a review of the literature. 56
1652202 1991
38
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 6
2549426 1989
39
Cushing syndrome with food-dependent periodic hormonogenesis. 56
2831001 1987
40
The McCune-Albright syndrome: a lethal gene surviving by mosaicism. 6
3720010 1986
41
CUSHING'S SYNDROME: NODULAR CORTICAL HYPERPLASIA OF ADRENAL GLANDS WITH CLINICAL AND PATHOLOGICAL FEATURES SUGGESTING ADRENOCORTICAL TUMOR. 56
14228534 1964
42
Bilateral adrenocortical adenomas causing adrenocorticotropic hormone-independent Cushing's syndrome: A case report and review of the literature. 61
31119141 2019
43
Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia. 61
29279458 2018
44
[Improvement in Hyperglysemia Following Unilateral Adrenalectomy for ACTH-Independent Macronodular Adrenal Hyperplasia (AIMAH) : A Case Report]. 61
28245538 2017
45
Laparoscopic Subcutaneous Transposition of a Pedicled Adrenal for ACTH-Independent Bilateral Macronodular Adrenal Hyperplasia. 61
27182971 2016
46
[Etiology analysis of 522 hospitalized cases with Cushing syndrome]. 61
27562041 2016
47
Diagnosis and treatment of adrenocorticotrophic hormone-independent macronodular adrenocortical hyperplasia: A report of 23 cases in a single center. 61
25574224 2015
48
Genetics of primary macronodular adrenal hyperplasia. 61
25472909 2015
49
In silico analyses reveal nuclear asymmetry of spongiocytes and compact cells of adrenocorticotrophic hormone-independent macronodular adrenocortical hyperplasia. 61
24029797 2014
50
[Clinical characteristics of adrenocorticotropic hormone independent macronodular adrenal hyperplasia: a report of 30 cases]. 61
24854913 2014

Variations for Acth-Independent Macronodular Adrenal Hyperplasia

ClinVar genetic disease variations for Acth-Independent Macronodular Adrenal Hyperplasia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAS NM_001077488.4(GNAS):c.604C>A (p.Arg202Ser)SNV Pathogenic 15937 rs11554273 20:57484420-57484420 20:58909365-58909365
2 GNAS NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter)SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811
3 GNAS NM_001077488.4(GNAS):c.1A>G (p.Met1Val)SNV Pathogenic/Likely pathogenic 15927 rs137854530 20:57466782-57466782 20:58891727-58891727
4 GNAS NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys)SNV Pathogenic/Likely pathogenic 15933 rs11554273 20:57484420-57484420 20:58909365-58909365
5 GNAS NM_001077488.4(GNAS):c.605G>A (p.Arg202His)SNV Pathogenic/Likely pathogenic 15934 rs121913495 20:57484421-57484421 20:58909366-58909366
6 GNAS NM_080425.3(GNAS):c.1200C>A (p.Ala400=)SNV Uncertain significance 417934 rs908810796 20:57429520-57429520 20:58854465-58854465
7 GNAS NM_080425.3(GNAS):c.1455C>A (p.Ala485=)SNV Benign 417936 rs55890501 20:57429775-57429775 20:58854720-58854720

UniProtKB/Swiss-Prot genetic disease variations for Acth-Independent Macronodular Adrenal Hyperplasia:

73
# Symbol AA change Variation ID SNP ID
1 GNAS p.Arg201His VAR_003441 rs121913495
2 GNAS p.Arg201Ser VAR_017846 rs11554273

Expression for Acth-Independent Macronodular Adrenal Hyperplasia

Search GEO for disease gene expression data for Acth-Independent Macronodular Adrenal Hyperplasia.

Pathways for Acth-Independent Macronodular Adrenal Hyperplasia

Pathways related to Acth-Independent Macronodular Adrenal Hyperplasia according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 PRKAR1A POMC PDE8B PDE11A MC2R GNRH1
2
Show member pathways
13.28 POMC MC2R GNRH1 GNAS GIPR GIP
3
Show member pathways
12.38 POMC PDE8B PDE11A MC2R GNAS GIP
4
Show member pathways
12.26 GNAS EDNRA AVPR1B AVPR1A
5
Show member pathways
12.16 GNAS GIPR GIP CRH
6
Show member pathways
12.12 GNAS AVPR2 AVPR1B AVPR1A
7
Show member pathways
12.01 GNAS EDNRA AVPR1B AVPR1A
8 11.97 POMC MC2R GNAS GIPR GIP EDNRA
9 11.62 POMC GNAS CRH
10 11.44 POMC PDE8B PDE11A MC2R GNAS GIPR
11 10.21 POMC CRH

GO Terms for Acth-Independent Macronodular Adrenal Hyperplasia

Cellular components related to Acth-Independent Macronodular Adrenal Hyperplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cAMP-dependent protein kinase complex GO:0005952 8.62 PRKX PRKAR1A

Biological processes related to Acth-Independent Macronodular Adrenal Hyperplasia according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.83 PRKX POMC PDE8B PDE11A MC2R GNRH1
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.78 GIPR EDNRA AVPR1B AVPR1A
3 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.71 GNAS GIPR AVPR2
4 regulation of insulin secretion GO:0050796 9.7 GNAS GIPR GIP
5 generation of precursor metabolites and energy GO:0006091 9.69 POMC GIPR AVPR1A
6 cellular response to hormone stimulus GO:0032870 9.67 AVPR2 AVPR1B AVPR1A
7 female pregnancy GO:0007565 9.67 GNRH1 GNAS GIP CRH
8 renal water homeostasis GO:0003091 9.63 PRKAR1A GNAS AVPR2
9 activation of adenylate cyclase activity GO:0007190 9.62 GNAS GIPR EDNRA AVPR2
10 positive regulation of vasoconstriction GO:0045907 9.61 AVPR2 AVPR1B AVPR1A
11 activation of phospholipase C activity GO:0007202 9.58 EDNRA AVPR1B AVPR1A
12 response to corticosterone GO:0051412 9.56 CRH AVPR1A
13 positive regulation of systemic arterial blood pressure GO:0003084 9.55 AVPR2 AVPR1A
14 positive regulation of cAMP-mediated signaling GO:0043950 9.46 GNAS GIPR GIP CRH
15 G protein-coupled receptor signaling pathway GO:0007186 9.44 POMC PDE8B PDE11A MC2R GNRH1 GNAS
16 regulation of systemic arterial blood pressure by vasopressin GO:0001992 9.43 AVPR2 AVPR1B AVPR1A

Molecular functions related to Acth-Independent Macronodular Adrenal Hyperplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.8 MC2R GIPR EDNRA AVPR2 AVPR1B AVPR1A
2 peptide binding GO:0042277 9.43 AVPR2 AVPR1B AVPR1A
3 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.37 PRKAR1A PDE11A
4 hormone activity GO:0005179 9.26 POMC GNRH1 GIP CRH
5 corticotropin-releasing hormone receptor 1 binding GO:0051430 9.16 GNAS CRH
6 vasopressin receptor activity GO:0005000 8.8 AVPR2 AVPR1B AVPR1A

Sources for Acth-Independent Macronodular Adrenal Hyperplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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