AIMAH1
MCID: ACT092
MIFTS: 53

Acth-Independent Macronodular Adrenal Hyperplasia (AIMAH1)

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

Aliases & Classifications for Acth-Independent Macronodular Adrenal Hyperplasia

MalaCards integrated aliases for Acth-Independent Macronodular Adrenal Hyperplasia:

Name: Acth-Independent Macronodular Adrenal Hyperplasia 58 54 13 74
Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia 58 54 76
Corticotropin-Independent Macronodular Adrenal Hyperplasia 58 54 76
Acth-Independent Macronodular Adrenocortical Hyperplasia 58 54 76
Aimah1 58 76
Hyperplasia, Adrenal, Acth-Independent, Macronodular, Type 1 41
Acth-Independent Macronodular Adrenal Hyperplasia 2 74
Acth-Independent Macronodular Adrenal Hyperplasia 1 76
Massive Macronodular Adrenocortical Disease 54
Primary Macronodular Adrenal Hyperplasia 54
Cushing Syndrome, Adrenal, Due to Aimah 58
Adrenal Cushing Syndrome Due to Aimah 76
Acth-Independent Cushing Syndrome 76
Aimah 54
Mmad 54

Characteristics:

OMIM:

58
Inheritance:
somatic mutation

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


HPO:

33
acth-independent macronodular adrenal hyperplasia:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Acth-Independent Macronodular Adrenal Hyperplasia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 189427Disease definitionACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) 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 (see this term).EpidemiologyPrevalence of endogenous CS is estimated at 1/26,000 and AIMAH represents less than 1% of the cases.Clinical descriptionThe 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. AIMAH 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.EtiologyThe exact etiology is unknown but the adrenal overgrowth seen in AIMAH 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 methodsDiagnosis 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 diagnosisDifferential 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 counselingAIMAH 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 treatmentTreatment 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.PrognosisPrognosis 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 primary pigmented nodular adrenocortical disease and conn's syndrome, 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 Epinephrine and Racepinephrine 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 thin skin

OMIM : 58 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 : 76 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

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 primary pigmented nodular adrenocortical disease 32.3 GNAS PDE11A
2 conn's syndrome 30.6 GNAS MC2R PDE11A
3 acth-independent macronodular adrenal hyperplasia 2 13.2
4 pigmented nodular adrenocortical disease, primary, 2 11.5
5 pigmented nodular adrenocortical disease, primary, 1 11.5
6 pigmented nodular adrenocortical disease, primary, 3 11.5
7 pigmented nodular adrenocortical disease, primary, 4 11.5
8 alzheimer disease 10.3
9 adrenal cortical adenoma 10.3
10 insulinoma 10.3
11 leiomyomatosis 10.3
12 intravenous leiomyomatosis 10.3
13 diabetes mellitus, noninsulin-dependent 10.3
14 multiple endocrine neoplasia, type i 10.3
15 mccune-albright syndrome 10.3
16 diabetes mellitus 10.3
17 adenoma 10.3
18 aldosterone-producing adenoma 10.3
19 multiple endocrine neoplasia 10.3
20 cushing syndrome due to macronodular adrenal hyperplasia 10.2 ARMC5 GNAS
21 hereditary leiomyomatosis and renal cell cancer 10.1
22 meningioma, familial 10.1
23 spinal meningioma 10.1
24 secretory meningioma 10.1
25 primary hyperparathyroidism 10.1
26 hyperparathyroidism 10.1
27 adrenal gland disease 10.1 ARMC5 MC2R
28 carney complex variant 10.1 GNAS PDE11A
29 asperger syndrome 9.9 AVPR1A AVPR1B
30 adrenal cortex disease 9.9 ARMC5 MC2R PDE11A
31 precocious puberty 9.8 GNAS GNRH1
32 diabetes insipidus, neurohypophyseal 9.8 AVPR2 GNRH1
33 adrenal rest tumor 9.8 GNRH1 MC2R

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:

33 (show all 32)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 hallmark (90%) HP:0001508
2 thin skin 33 hallmark (90%) HP:0000963
3 round face 33 hallmark (90%) HP:0000311
4 truncal obesity 33 hallmark (90%) HP:0001956
5 adrenocortical hypoplasia 33 hallmark (90%) HP:0008182
6 vestibular areflexia 33 hallmark (90%) HP:0008568
7 depressivity 33 frequent (33%) HP:0000716
8 diabetes mellitus 33 frequent (33%) HP:0000819
9 hypertension 33 frequent (33%) HP:0000822
10 muscle weakness 33 frequent (33%) HP:0001324
11 hypokalemia 33 frequent (33%) HP:0002900
12 fatigue 33 frequent (33%) HP:0012378
13 generalized hirsutism 33 frequent (33%) HP:0002230
14 acne 33 frequent (33%) HP:0001061
15 anxiety 33 frequent (33%) HP:0000739
16 striae distensae 33 frequent (33%) HP:0001065
17 nephrolithiasis 33 frequent (33%) HP:0000787
18 bruising susceptibility 33 frequent (33%) HP:0000978
19 infertility 33 frequent (33%) HP:0000789
20 menometrorrhagia 33 frequent (33%) HP:0400008
21 osteopenia 33 HP:0000938
22 kyphosis 33 HP:0002808
23 osteoporosis 33 HP:0000939
24 skeletal muscle atrophy 33 HP:0003202
25 neoplasm 33 HP:0002664
26 psychosis 33 HP:0000709
27 agitation 33 HP:0000713
28 mental deterioration 33 HP:0001268
29 decreased circulating acth level 33 HP:0002920
30 macronodular adrenal hyperplasia 33 HP:0008231
31 mood changes 33 HP:0001575
32 primary hypercortisolism 33 HP:0001579

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension

Skeletal:
osteoporosis
decreased bone mineral density

Neurologic Behavioral Psychiatric Manifestations:
anxiety
psychosis
agitation
mood changes
depression

Growth Weight:
truncal obesity

Muscle Soft Tissue:
muscle wasting

Neoplasia:
no progression to cancer

Skeletal Spine:
kyphosis

Skin Nails Hair Skin:
thin skin
easy bruising
striae

Head And Neck Face:
round face

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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 AVPR1A AVPR1B AVPR2 EDNRA GNAS MC2R
2 endocrine/exocrine gland MP:0005379 9.8 ARMC5 AVPR1A AVPR1B EDNRA GNAS GNRH1
3 hematopoietic system MP:0005397 9.63 AVPR1A AVPR2 EDNRA GNAS GNRH1 MC2R
4 homeostasis/metabolism MP:0005376 9.56 ARMC5 AVPR1A AVPR1B AVPR2 EDNRA GNAS
5 nervous system MP:0003631 9.17 AVPR1A AVPR1B EDNRA GNAS GNRH1 MC2R

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 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
2
Racepinephrine Approved Phase 2 329-65-7 838
3 Adrenocorticotropic Hormone Phase 2
4 Epinephryl borate Phase 2
5
Mifepristone Approved, Investigational 84371-65-3 55245
6 Autonomic Agents
7 Adrenergic Agents
8 Vasoconstrictor Agents
9 Sympathomimetics
10 Neurotransmitter Agents
11 Adrenergic alpha-Agonists
12 Adrenergic Agonists
13 Adrenergic beta-Agonists
14 Peripheral Nervous System Agents
15 Bronchodilator Agents
16 Hormones
17 Respiratory System Agents
18 Anti-Asthmatic Agents
19 Mydriatics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Completed NCT02468193 Phase 2 Osilodrostat
2 Retrospective Chart Review Study of Korlym for the Treatment of ACTH Independent Cushing's Syndrome Completed NCT02663609
3 Study of Adrenal Gland Tumors Recruiting NCT00005927

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:

42
Adrenal Gland, Pituitary, Cortex, Adrenal Cortex, Ovary, Skin, Bone

Publications for Acth-Independent Macronodular Adrenal Hyperplasia

Articles related to Acth-Independent Macronodular Adrenal Hyperplasia:

(show all 34)
# Title Authors Year
1
Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia. ( 29279458 )
2018
2
Preoperative Ketoconazole Therapy for Primary Bilateral Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia Syndrome. ( 28079539 )
2017
3
A patient with Alzheimer's disease complicated by elderly-onset Cushing's syndrome who had undergone surgical treatment for adrenocorticotropic hormone-independent macronodular adrenal hyperplasia. ( 26370184 )
2016
4
Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia with abnormal cortisol secretion mediated by catecholamines. ( 25228844 )
2014
5
Laparoscopic enucleation of macronodules in a patient with ACTH-independent macronodular adrenal hyperplasia 7 years after unilateral adrenalectomy: consideration of operative procedure. ( 23486077 )
2013
6
Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia. ( 23754170 )
2013
7
Classification, diagnosis and treatment of ACTH-independent macronodular adrenal hyperplasia. ( 24069103 )
2013
8
Adrenocorticotropic hormone independent macronodular adrenal hyperplasia due to aberrant receptor expression: is medical treatment always an option? ( 23425648 )
2013
9
Assessment of long-term efficacy and safety of metyrapone monotherapy in a patient with ACTH-independent macronodular adrenal hyperplasia. ( 22038492 )
2012
10
Genome-wide gene expression profiling identifies overlap with malignant adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia. ( 22383426 )
2012
11
Usefulness and limitations of unilateral adrenalectomy for ACTH-independent macronodular adrenal hyperplasia in a patient with poor glycemic control. ( 22790131 )
2012
12
Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors. ( 22996146 )
2012
13
Successful treatment for adrenocorticotropic hormone-independent macronodular adrenal hyperplasia with laparoscopic adrenalectomy: a case series. ( 22989371 )
2012
14
A rare case of ACTH-independent macronodular adrenal hyperplasia associated with aldosterone-producing adenoma. ( 21297325 )
2011
15
A case of ACTH-independent macronodular adrenal hyperplasia associated with multiple endocrine neoplasia type 1. ( 21415556 )
2011
16
Adrenocorticotropic hormone independent macronodular adrenal hyperplasia. ( 22689846 )
2011
17
Aberrant expression of multiple hormone receptors in ACTH-independent macronodular adrenal hyperplasia causing Cushing's syndrome. ( 20460422 )
2010
18
Aberrant expression of glucagon receptors in adrenal glands of a patient with Cushing's syndrome and ACTH-independent macronodular adrenal hyperplasia. ( 20529775 )
2010
19
Unilateral adrenalectomy can be an alternative therapy for infantile onset Cushing' s syndrome caused by ACTH-independent macronodular adrenal hyperplasia with McCune-Albright syndrome. ( 20543510 )
2010
20
Role of unilateral aderenalectomy in ACTH-independent macronodular adrenal hyperplasia. ( 18825451 )
2009
21
Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds. ( 19018784 )
2009
22
ACTH-independent macronodular adrenal hyperplasia. ( 19500767 )
2009
23
ACTH-independent macronodular adrenal hyperplasia: imaging findings of a rare condition : A case report. ( 17502981 )
2008
24
The role of unilateral adrenalectomy in ACTH-independent macronodular adrenal hyperplasia (AIMAH). ( 18214589 )
2008
25
Cushing's syndrome secondary to ACTH-independent macronodular adrenal hyperplasia. ( 18209860 )
2007
26
Clinical and subclinical ACTH-independent macronodular adrenal hyperplasia and aberrant hormone receptors. ( 16215323 )
2005
27
Ectopic expression of vasopressin V1b and V2 receptors in the adrenal glands of familial ACTH-independent macronodular adrenal hyperplasia. ( 16343095 )
2005
28
An unusual case of Cushing's syndrome due to ACTH-independent macronodular adrenal hyperplasia. ( 12744099 )
2003
29
A case of ACTH-independent macronodular adrenal hyperplasia: simultaneous expression of several aberrant hormone receptors in the adrenal gland. ( 12940463 )
2003
30
Unilateral adrenalectomy improves insulin resistance and diabetes mellitus in a patient with ACTH-independent macronodular adrenal hyperplasia. ( 14709842 )
2003
31
Is unilateral adrenalectomy an alternative treatment for ACTH-independent macronodular adrenal hyperplasia?: Long-term follow-up of four cases. ( 11834434 )
2002
32
A case of severe hypertension caused by ACTH-independent macronodular adrenal hyperplasia. ( 11936469 )
2002
33
Simultaneous bilateral laparoscopic adrenalectomy in ACTH-independent macronodular adrenal hyperplasia. ( 11389748 )
2001
34
Case of adrenocorticotropic hormone-independent macronodular adrenal hyperplasia with possible adrenal hypersensitivity to angiotensin II. ( 11572327 )
2001

Variations for Acth-Independent Macronodular Adrenal Hyperplasia

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

76
# Symbol AA change Variation ID SNP ID
1 GNAS p.Arg201His VAR_003441 rs121913495
2 GNAS p.Arg201Ser VAR_017846 rs11554273

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 GRCh37 Chromosome 20, 57466782: 57466782
2 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 GRCh38 Chromosome 20, 58891727: 58891727
3 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
4 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
5 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
6 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366
7 GNAS NM_000516.5(GNAS): c.601C> A (p.Arg201Ser) single nucleotide variant Pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
8 GNAS NM_000516.5(GNAS): c.601C> A (p.Arg201Ser) single nucleotide variant Pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
9 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh37 Chromosome 20, 57466866: 57466866
10 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh38 Chromosome 20, 58891811: 58891811
11 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
12 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
13 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
14 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720

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
13.67 AVPR1A AVPR1B AVPR2 EDNRA GNAS GNRH1
2
Show member pathways
12.78 AVPR1A AVPR1B AVPR2 EDNRA GNAS GNRH1
3
Show member pathways
12.28 AVPR1A AVPR1B EDNRA GNAS
4
Show member pathways
12.26 EDNRA GNAS GNRH1
5
Show member pathways
11.95 AVPR1A AVPR1B AVPR2 GNAS
6 11.91 EDNRA GNAS MC2R
7
Show member pathways
11.74 AVPR1A AVPR1B EDNRA GNAS
8 11.32 EDNRA GNAS
9 11.1 AVPR2 GNAS
10 11.09 AVPR2 GNAS MC2R PDE11A
11 10.96 EDNRA GNAS

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 integral component of plasma membrane GO:0005887 9.02 AVPR1A AVPR1B AVPR2 EDNRA MC2R

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.76 AVPR1A AVPR1B AVPR2 EDNRA GNAS GNRH1
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.63 AVPR1A AVPR1B EDNRA
3 cellular response to hormone stimulus GO:0032870 9.58 AVPR1A AVPR1B AVPR2
4 activation of adenylate cyclase activity GO:0007190 9.54 AVPR2 EDNRA GNAS
5 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.52 AVPR2 GNAS
6 renal water homeostasis GO:0003091 9.51 AVPR2 GNAS
7 positive regulation of vasoconstriction GO:0045907 9.5 AVPR1A AVPR1B AVPR2
8 telencephalon development GO:0021537 9.49 AVPR1A AVPR2
9 positive regulation of blood pressure GO:0045777 9.48 AVPR1A AVPR2
10 positive regulation of systemic arterial blood pressure GO:0003084 9.43 AVPR1A AVPR2
11 activation of phospholipase C activity GO:0007202 9.43 AVPR1A AVPR1B EDNRA
12 G protein-coupled receptor signaling pathway GO:0007186 9.23 AVPR1A AVPR1B AVPR2 EDNRA GNAS GNRH1
13 regulation of systemic arterial blood pressure by vasopressin GO:0001992 9.13 AVPR1A AVPR1B AVPR2

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 9.35 AVPR1A AVPR1B AVPR2 EDNRA MC2R
2 protein kinase C binding GO:0005080 9.16 AVPR1A AVPR1B
3 vasopressin receptor activity GO:0005000 8.8 AVPR1A AVPR1B AVPR2

Sources for Acth-Independent Macronodular Adrenal Hyperplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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