AIMAH2
MCID: ACT202
MIFTS: 35

Acth-Independent Macronodular Adrenal Hyperplasia 2 (AIMAH2)

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

Aliases & Classifications for Acth-Independent Macronodular Adrenal Hyperplasia 2

MalaCards integrated aliases for Acth-Independent Macronodular Adrenal Hyperplasia 2:

Name: Acth-Independent Macronodular Adrenal Hyperplasia 2 57 74 29 6 40 17 72
Primary Macronodular Adrenal Hyperplasia 57 25 74
Acth-Independent Macronodular Adrenal Hyperplasia 25 72
Aimah2 57 74
Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia 25
Corticotropin-Independent Macronodular Adrenal Hyperplasia 25
Acth-Independent Macronodular Adrenocortical Hyperplasia 25
Primary Bilateral Macronodular Adrenal Hyperplasia 25
Adrenal Cushing Syndrome Due to Aimah 25
Aimah 25
Pmah 25

Characteristics:

OMIM:

57
Inheritance:
somatic mutation
autosomal dominant


HPO:

32
acth-independent macronodular adrenal hyperplasia 2:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



External Ids:

OMIM 57 615954
MeSH 44 D003480
UMLS 72 C1857451 C4014803

Summaries for Acth-Independent Macronodular Adrenal Hyperplasia 2

Genetics Home Reference : 25 Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising blood sugar levels. PMAH typically becomes evident in a person's forties or fifties. It is considered a form of Cushing syndrome, which is characterized by increased levels of cortisol resulting from one of many possible causes. These increased cortisol levels lead to weight gain in the face and upper body, fragile skin, bone loss, fatigue, and other health problems. However, some people with PMAH do not experience these signs and symptoms and are said to have subclinical Cushing syndrome.

MalaCards based summary : Acth-Independent Macronodular Adrenal Hyperplasia 2, also known as primary macronodular adrenal hyperplasia, is related to acth-independent macronodular adrenal hyperplasia and conn's syndrome, and has symptoms including agitation and generalized fatigue. An important gene associated with Acth-Independent Macronodular Adrenal Hyperplasia 2 is ARMC5 (Armadillo Repeat Containing 5). The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and kidney, and related phenotypes are abdominal obesity and depressivity

OMIM : 57 ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013). (615954)

UniProtKB/Swiss-Prot : 74 ACTH-independent macronodular adrenal hyperplasia 2: A form of macronodular adrenal hyperplasia 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 2

Diseases in the Acth-Independent Macronodular Adrenal Hyperplasia family:

Acth-Independent Macronodular Adrenal Hyperplasia 2

Diseases related to Acth-Independent Macronodular Adrenal Hyperplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 11.9
2 conn's syndrome 10.4
3 adenoma 10.4
4 allergic hypersensitivity disease 10.3
5 adrenal cortical adenoma 10.3
6 adrenal adenoma 10.3
7 endocrine gland cancer 10.3
8 hyperinsulinism 10.3
9 insulinoma 10.3
10 nelson syndrome 10.3
11 hypoglycemia 10.3
12 tremor 10.3
13 multiple endocrine neoplasia, type i 10.3
14 mccune-albright syndrome 10.3
15 adrenocortical carcinoma, hereditary 10.3
16 alacrima, achalasia, and mental retardation syndrome 10.3
17 adrenal cortical carcinoma 10.3
18 primary pigmented nodular adrenocortical disease 10.3
19 polycystic kidney disease 10.3
20 glucose intolerance 10.3
21 hemiplegia 10.3
22 infant gynecomastia 10.3
23 gynecomastia 10.3
24 impotence 10.3
25 adrenal cortical adenocarcinoma 10.3
26 hyperglycemia 10.3
27 aldosterone-producing adenoma 10.3
28 multiple endocrine neoplasia 10.3
29 overgrowth syndrome 10.3
30 cushing syndrome due to macronodular adrenal hyperplasia 10.3
31 hypogonadism 10.2
32 hypokalemia 10.2
33 hypogonadotropism 10.2
34 exophthalmos 10.2
35 bilateral massive adrenal hemorrhage 10.2
36 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 10.1
37 gallbladder disease 1 10.1
38 primary hyperparathyroidism 10.1
39 hyperparathyroidism 10.1
40 muscular atrophy 10.1
41 meningioma, radiation-induced 10.1
42 meningioma, familial 10.1
43 brain meningioma 10.1
44 spinal meningioma 10.1
45 secretory meningioma 10.1
46 lymphoplasmacyte-rich meningioma 10.1

Graphical network of the top 20 diseases related to Acth-Independent Macronodular Adrenal Hyperplasia 2:



Diseases related to Acth-Independent Macronodular Adrenal Hyperplasia 2

Symptoms & Phenotypes for Acth-Independent Macronodular Adrenal Hyperplasia 2

Human phenotypes related to Acth-Independent Macronodular Adrenal Hyperplasia 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abdominal obesity 32 occasional (7.5%) HP:0012743
2 depressivity 32 HP:0000716
3 hypertension 32 HP:0000822
4 osteoporosis 32 HP:0000939
5 round face 32 HP:0000311
6 hyperglycemia 32 HP:0003074
7 macronodular adrenal hyperplasia 32 HP:0008231

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteoporosis

Laboratory Abnormalities:
hyperglycemia

Metabolic Features:
generalized fatigue

Growth Weight:
weight gain (in some patients)
central obesity (in some patients)

Head And Neck Face:
round face

Endocrine Features:
macronodular adrenal hyperplasia
high plasma cortisol
low adrenocorticotropic hormone (acth)

Neurologic Behavioral Psychiatric Manifestations:
depression
cognitive changes

Cardiovascular Vascular:
hypertension (in all patients)

Clinical features from OMIM:

615954

UMLS symptoms related to Acth-Independent Macronodular Adrenal Hyperplasia 2:


agitation, generalized fatigue

Drugs & Therapeutics for Acth-Independent Macronodular Adrenal Hyperplasia 2

Drugs for Acth-Independent Macronodular Adrenal Hyperplasia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 2 329-65-7 838
2
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
3 Adrenocorticotropic Hormone Phase 2
4 Epinephryl borate Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

Search NIH Clinical Center for Acth-Independent Macronodular Adrenal Hyperplasia 2

Genetic Tests for Acth-Independent Macronodular Adrenal Hyperplasia 2

Genetic tests related to Acth-Independent Macronodular Adrenal Hyperplasia 2:

# Genetic test Affiliating Genes
1 Acth-Independent Macronodular Adrenal Hyperplasia 2 29 ARMC5

Anatomical Context for Acth-Independent Macronodular Adrenal Hyperplasia 2

MalaCards organs/tissues related to Acth-Independent Macronodular Adrenal Hyperplasia 2:

41
Skin, Bone, Kidney, Adrenal Gland

Publications for Acth-Independent Macronodular Adrenal Hyperplasia 2

Articles related to Acth-Independent Macronodular Adrenal Hyperplasia 2:

(show all 21)
# Title Authors PMID Year
1
ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia. 38 8 71
24708098 2014
2
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia. 8 71
24905064 2014
3
Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. 8 71
24601692 2014
4
ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. 8 71
24283224 2013
5
Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds. 8
19018784 2009
6
Adrenal tumors: when to search for a germline abnormality? 38
30985498 2019
7
Genetics of primary macronodular adrenal hyperplasia. 38
30075949 2018
8
Genomic insights into Cushing syndrome. 38
29735160 2018
9
Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia. 38
29279458 2018
10
Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function. 38
28911199 2017
11
Long-term Results after CT-Guided Percutaneous Ethanol Ablation for the Treatment of Hyperfunctioning Adrenal Disorders. 38
27759849 2016
12
The Use of Three-dimensional Printers for Partial Adrenalectomy: Estimating the Resection Limits. 38
26775074 2016
13
High 18F-FDG uptake in PMAH correlated with normal expression of Glut1, HK1, HK2, and HK3. 38
25766729 2016
14
Etiopathogeny of Primary Adrenal Hypercortisolism. 38
27212135 2016
15
GERMLINE DELETION OF ARMC5 IN FAMILIAL PRIMARY MACRONODULAR ADRENAL HYPERPLASIA. 38
26214113 2015
16
The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia. 38
26162405 2015
17
ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences. 38
25853793 2015
18
Primary Aldosteronism and ARMC5 Variants. 38
25822102 2015
19
Genetics of primary macronodular adrenal hyperplasia. 38
25472909 2015
20
Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma. 38
25279498 2015
21
Familial ACTH-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia clinically affecting only female family members. 38
12373631 2002

Variations for Acth-Independent Macronodular Adrenal Hyperplasia 2

ClinVar genetic disease variations for Acth-Independent Macronodular Adrenal Hyperplasia 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ARMC5 NM_001288767.2(ARMC5): c.1084C> T (p.Arg362Ter) single nucleotide variant Pathogenic rs369721476 16:31473667-31473667 16:31462346-31462346
2 ARMC5 NM_001288767.2(ARMC5): c.2977C> T (p.Arg993Trp) single nucleotide variant Pathogenic rs587777659 16:31478094-31478094 16:31466773-31466773
3 ARMC5 NM_001288767.2(ARMC5): c.541C> T (p.Gln181Ter) single nucleotide variant Pathogenic rs587777660 16:31471101-31471101 16:31459780-31459780
4 ARMC5 NM_001288767.2(ARMC5): c.1928T> C (p.Leu643Pro) single nucleotide variant Pathogenic rs587777661 16:31475987-31475987 16:31464666-31464666
5 ARMC5 ARMC5, 1-BP DEL, G deletion Pathogenic
6 ARMC5 NM_001288767.2(ARMC5): c.2062C> T (p.Arg688Trp) single nucleotide variant Pathogenic rs587777662 16:31476121-31476121 16:31464800-31464800
7 ARMC5 NM_001288767.2(ARMC5): c.1379T> C (p.Leu460Pro) single nucleotide variant Pathogenic rs587777663 16:31473962-31473962 16:31462641-31462641

UniProtKB/Swiss-Prot genetic disease variations for Acth-Independent Macronodular Adrenal Hyperplasia 2:

74 (show all 17)
# Symbol AA change Variation ID SNP ID
1 ARMC5 p.Leu156Phe VAR_072354 rs114930262
2 ARMC5 p.Arg315Gln VAR_072355 rs141597457
3 ARMC5 p.Arg315Trp VAR_072356
4 ARMC5 p.Arg593Trp VAR_072358 rs587777662
5 ARMC5 p.Arg898Trp VAR_072360 rs587777659
6 ARMC5 p.Cys139Arg VAR_079100
7 ARMC5 p.Leu331Pro VAR_079104
8 ARMC5 p.Arg362Leu VAR_079105
9 ARMC5 p.Arg362Trp VAR_079106 rs138539760
10 ARMC5 p.Leu365Pro VAR_079108 rs587777663
11 ARMC5 p.Cys657Arg VAR_079118
12 ARMC5 p.Cys657Trp VAR_079119
13 ARMC5 p.Ile664Ser VAR_079120
14 ARMC5 p.Pro731Arg VAR_079123 rs200951744
15 ARMC5 p.Tyr736Ser VAR_079124
16 ARMC5 p.Leu754Pro VAR_079125
17 ARMC5 p.His808Pro VAR_079128

Expression for Acth-Independent Macronodular Adrenal Hyperplasia 2

Search GEO for disease gene expression data for Acth-Independent Macronodular Adrenal Hyperplasia 2.

Pathways for Acth-Independent Macronodular Adrenal Hyperplasia 2

GO Terms for Acth-Independent Macronodular Adrenal Hyperplasia 2

Sources for Acth-Independent Macronodular Adrenal Hyperplasia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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