MCID: ACT202
MIFTS: 28

Acth-Independent Macronodular Adrenal Hyperplasia 2

Categories: Genetic diseases, Rare diseases, Endocrine 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 53 71 28 69
Primary Macronodular Adrenal Hyperplasia 53 24 71
Acth-Independent Macronodular Adrenal Hyperplasia 24 69
Aimah2 53 71
Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia 24
Corticotropin-Independent Macronodular Adrenal Hyperplasia 24
Acth-Independent Macronodular Adrenocortical Hyperplasia 24
Primary Bilateral Macronodular Adrenal Hyperplasia 24
Adrenal Cushing Syndrome Due to Aimah 24
Aimah 24
Pmah 24

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant
somatic mutation


HPO:

31
acth-independent macronodular adrenal hyperplasia 2:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:



Summaries for Acth-Independent Macronodular Adrenal Hyperplasia 2

Genetics Home Reference : 24 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 cushing syndrome due to macronodular adrenal hyperplasia and acth-independent macronodular adrenal hyperplasia, and has symptoms including hypertension, osteoporosis and round face. An important gene associated with Acth-Independent Macronodular Adrenal Hyperplasia 2 is ARMC5 (Armadillo Repeat Containing 5). Affiliated tissues include kidney and adrenal gland.

OMIM : 53 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:

# Related Disease Score Top Affiliating Genes
1 cushing syndrome due to macronodular adrenal hyperplasia 11.7
2 acth-independent macronodular adrenal hyperplasia 11.6
3 conn's syndrome 10.0
4 exophthalmos 10.0

Symptoms & Phenotypes for Acth-Independent Macronodular Adrenal Hyperplasia 2

Symptoms via clinical synopsis from OMIM:

53
Metabolic Features:
generalized fatigue

Skeletal:
osteoporosis

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

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

Neurologic Behavioral Psychiatric Manifestations:
depression
cognitive changes

Head And Neck Face:
round face

Laboratory Abnormalities:
hyperglycemia

Cardiovascular Vascular:
hypertension (in all patients)


Clinical features from OMIM:

615954

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 osteoporosis 31 HP:0000939
3 round face 31 HP:0000311
4 macronodular adrenal hyperplasia 31 HP:0008231
5 hyperglycemia 31 HP:0003074
6 abdominal obesity 31 occasional (7.5%) HP:0012743
7 depressivity 31 HP:0000716

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


agitation, generalized fatigue

Drugs & Therapeutics for Acth-Independent Macronodular Adrenal Hyperplasia 2

Search Clinical Trials , 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 28 ARMC5

Anatomical Context for Acth-Independent Macronodular Adrenal Hyperplasia 2

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

38
Kidney, Adrenal Gland

Publications for Acth-Independent Macronodular Adrenal Hyperplasia 2

Articles related to Acth-Independent Macronodular Adrenal Hyperplasia 2:

# Title Authors Year
1
GERMLINE DELETION OF ARMC5 IN FAMILIAL PRIMARY MACRONODULAR ADRENAL HYPERPLASIA. ( 26214113 )
2015
2
ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences. ( 25853793 )
2015
3
ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia. ( 24708098 )
2014

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)
# 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 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

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

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....