Acth-Independent Macronodular Adrenal Hyperplasia 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615954

MedGen ⁴² C4014803 CN207837

MeSH ⁴⁴ D003480

SNOMED-CT via HPO ⁶⁹ 263681008 21061000119107 35489007 more

UMLS ⁷³ C4014803 C1857451

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Summaries for Acth-Independent Macronodular Adrenal Hyperplasia 2

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.

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). 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)

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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 15)

#	Related Disease	Score
1	cushing syndrome due to macronodular adrenal hyperplasia	11.9
2	acth-independent macronodular adrenal hyperplasia	11.7
3	conn's syndrome	10.6
4	alzheimer disease	10.3
5	adrenal cortical adenoma	10.3
6	insulinoma	10.3
7	multiple endocrine neoplasia, type i	10.3
8	mccune-albright syndrome	10.3
9	diabetes mellitus	10.3
10	adenoma	10.3
11	aldosterone-producing adenoma	10.3
12	multiple endocrine neoplasia	10.3
13	exophthalmos	10.1
14	primary hyperparathyroidism	10.1
15	hyperparathyroidism	10.1

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

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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

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Drugs & Therapeutics for Acth-Independent Macronodular Adrenal Hyperplasia 2

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

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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

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Anatomical Context for Acth-Independent Macronodular Adrenal Hyperplasia 2

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Publications for Acth-Independent Macronodular Adrenal Hyperplasia 2

Articles related to Acth-Independent Macronodular Adrenal Hyperplasia 2:

#	Title	Authors	Year
1	Genetics of primary macronodular adrenal hyperplasia. ( 30075949 )	Candida Barisson Villares Fragoso M...Ferini Pacicco Lotfi C	2018
2	ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences. ( 25853793 )	Espiard S....Bertherat J.	2015
3	GERMLINE DELETION OF ARMC5 IN FAMILIAL PRIMARY MACRONODULAR ADRENAL HYPERPLASIA. ( 26214113 )		2015
4	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. ( 25279498 )	Elbelt U...Schneider JG	2015
5	Genetics of primary macronodular adrenal hyperplasia. ( 25472909 )	Fragoso MC...Lacroix A	2015
6	ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia. ( 24708098 )	Alencar G.A....Fragoso M.C.	2014

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Genes for Acth-Independent Macronodular Adrenal Hyperplasia 2

Genes related to Acth-Independent Macronodular Adrenal Hyperplasia 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ARMC5	Armadillo Repeat Containing 5	Protein Coding	1341.82	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	24283224 24905064 24601692 (more) 24708098

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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

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Expression for Acth-Independent Macronodular Adrenal Hyperplasia 2

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

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Pathways for Acth-Independent Macronodular Adrenal Hyperplasia 2

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GO Terms for Acth-Independent Macronodular Adrenal Hyperplasia 2

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Acth-Independent Macronodular Adrenal Hyperplasia 2 (AIMAH2)

Aliases & Classifications for Acth-Independent Macronodular Adrenal Hyperplasia 2

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Acth-Independent Macronodular Adrenal Hyperplasia 2

Related Diseases for Acth-Independent Macronodular Adrenal Hyperplasia 2

Diseases in the Acth-Independent Macronodular Adrenal Hyperplasia family:

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

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

Symptoms & Phenotypes for Acth-Independent Macronodular Adrenal Hyperplasia 2

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

Drugs & Therapeutics 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:

Anatomical Context for Acth-Independent Macronodular Adrenal Hyperplasia 2

Publications for Acth-Independent Macronodular Adrenal Hyperplasia 2

Articles related to Acth-Independent Macronodular Adrenal Hyperplasia 2:

Genes for Acth-Independent Macronodular Adrenal Hyperplasia 2

Genes related to Acth-Independent Macronodular Adrenal Hyperplasia 2 (1 elite genes):

Variations for Acth-Independent Macronodular Adrenal Hyperplasia 2

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

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

Expression 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