MCID: ACT202
MIFTS: 28

Acth-Independent Macronodular Adrenal Hyperplasia 2

Categories: Genetic diseases, Endocrine 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 54 24 71 29 69
Primary Macronodular Adrenal Hyperplasia 24 25 71
Acth-Independent Macronodular Adrenal Hyperplasia 25 69
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
Aimah2 71
Aimah 25
Pmah 25

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant
somatic mutation


HPO:

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


Classifications:



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.

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 cushing syndrome due to macronodular adrenal hyperplasia, and has symptoms including round face, hyperglycemia and osteoporosis. An important gene associated with Acth-Independent Macronodular Adrenal Hyperplasia 2 is ARMC5 (Armadillo Repeat Containing 5). The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include kidney and adrenal gland.

OMIM : 54
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 : 71 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:

id Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 12.9
2 cushing syndrome due to macronodular adrenal hyperplasia 11.3
3 cushing's syndrome 10.4
4 adenoma 10.1
5 aldosterone-producing adenoma 10.1
6 multiple endocrine neoplasia 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

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
round face

Skeletal:
osteoporosis

Metabolic Features:
generalized fatigue

Cardiovascular- Vascular:
hypertension (in all patients)

Laboratory- Abnormalities:
hyperglycemia

Neurologic- Behavioral Psychiatric Manifestations:
depression
cognitive changes

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

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


Clinical features from OMIM:

615954

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

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

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):


id 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
3 Adrenocorticotropic Hormone Phase 2
4 Epinephryl borate Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Recruiting 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:

id Genetic test Affiliating Genes
1 Acth-Independent Macronodular Adrenal Hyperplasia 2 29 24 ARMC5

Anatomical Context for Acth-Independent Macronodular Adrenal Hyperplasia 2

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

39
Kidney, Adrenal Gland

Publications for Acth-Independent Macronodular Adrenal Hyperplasia 2

Variations for Acth-Independent Macronodular Adrenal Hyperplasia 2

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

71 (show all 17)
id Symbol AA change Variation ID SNP ID
1 ARMC5 p.Leu156Phe VAR_072354 rs114930262
2 ARMC5 p.Arg315Gln VAR_072355
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
10 ARMC5 p.Leu365Pro VAR_079108
11 ARMC5 p.Cys657Arg VAR_079118
12 ARMC5 p.Cys657Trp VAR_079119
13 ARMC5 p.Ile664Ser VAR_079120
14 ARMC5 p.Pro731Arg VAR_079123
15 ARMC5 p.Tyr736Ser VAR_079124
16 ARMC5 p.Leu754Pro VAR_079125
17 ARMC5 p.His808Pro VAR_079128

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

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

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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