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 57 75 29 6 40 73
Primary Macronodular Adrenal Hyperplasia 57 25 75
Acth-Independent Macronodular Adrenal Hyperplasia 25 73
Aimah2 57 75
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:
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 cushing syndrome due to macronodular adrenal hyperplasia and acth-independent macronodular adrenal hyperplasia, 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). Affiliated tissues include kidney and adrenal gland, and related phenotypes are depressivity and hypertension

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 : 75 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 11.8
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:

57
Skeletal:
osteoporosis

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

Neurologic Behavioral Psychiatric Manifestations:
depression
cognitive changes

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

Head And Neck Face:
round face

Laboratory Abnormalities:
hyperglycemia

Metabolic Features:
generalized fatigue

Cardiovascular Vascular:
hypertension (in all patients)


Clinical features from OMIM:

615954

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

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

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 29 ARMC5

Anatomical Context for Acth-Independent Macronodular Adrenal Hyperplasia 2

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

41
Kidney, Adrenal Gland

Publications for Acth-Independent Macronodular Adrenal Hyperplasia 2

Articles related to Acth-Independent Macronodular Adrenal Hyperplasia 2:

# Title Authors Year
1
ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences. ( 25853793 )
2015
2
GERMLINE DELETION OF ARMC5 IN FAMILIAL PRIMARY MACRONODULAR ADRENAL HYPERPLASIA. ( 26214113 )
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:

75 (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
(show all 13)
# 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.1084C> T (p.Arg362Ter) single nucleotide variant Pathogenic rs369721476 GRCh37 Chromosome 16, 31473667: 31473667
3 ARMC5 NM_001288767.1(ARMC5): c.2977C> T (p.Arg993Trp) single nucleotide variant Pathogenic rs587777659 GRCh38 Chromosome 16, 31466773: 31466773
4 ARMC5 NM_001288767.1(ARMC5): c.2977C> T (p.Arg993Trp) single nucleotide variant Pathogenic rs587777659 GRCh37 Chromosome 16, 31478094: 31478094
5 ARMC5 NM_001288767.1(ARMC5): c.541C> T (p.Gln181Ter) single nucleotide variant Pathogenic rs587777660 GRCh38 Chromosome 16, 31459780: 31459780
6 ARMC5 NM_001288767.1(ARMC5): c.541C> T (p.Gln181Ter) single nucleotide variant Pathogenic rs587777660 GRCh37 Chromosome 16, 31471101: 31471101
7 ARMC5 NM_001288767.1(ARMC5): c.1928T> C (p.Leu643Pro) single nucleotide variant Pathogenic rs587777661 GRCh38 Chromosome 16, 31464666: 31464666
8 ARMC5 NM_001288767.1(ARMC5): c.1928T> C (p.Leu643Pro) single nucleotide variant Pathogenic rs587777661 GRCh37 Chromosome 16, 31475987: 31475987
9 ARMC5 ARMC5, 1-BP DEL, G deletion Pathogenic
10 ARMC5 NM_001288767.1(ARMC5): c.2062C> T (p.Arg688Trp) single nucleotide variant Pathogenic rs587777662 GRCh38 Chromosome 16, 31464800: 31464800
11 ARMC5 NM_001288767.1(ARMC5): c.2062C> T (p.Arg688Trp) single nucleotide variant Pathogenic rs587777662 GRCh37 Chromosome 16, 31476121: 31476121
12 ARMC5 NM_001288767.1(ARMC5): c.1379T> C (p.Leu460Pro) single nucleotide variant Pathogenic rs587777663 GRCh38 Chromosome 16, 31462641: 31462641
13 ARMC5 NM_001288767.1(ARMC5): c.1379T> C (p.Leu460Pro) single nucleotide variant Pathogenic rs587777663 GRCh37 Chromosome 16, 31473962: 31473962

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

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