MCID: ACT247
MIFTS: 16

Acth-Independent Macronodular Adrenal Hyperplasia 1

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

Aliases & Classifications for Acth-Independent Macronodular Adrenal Hyperplasia 1

MalaCards integrated aliases for Acth-Independent Macronodular Adrenal Hyperplasia 1:

Name: Acth-Independent Macronodular Adrenal Hyperplasia 1 12 15
Hyperplasia, Adrenal, Acth-Independent, Macronodular, Type 1 39
Aimah1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111623

Summaries for Acth-Independent Macronodular Adrenal Hyperplasia 1

Disease Ontology : 12 An ACTH-independent macronodular adrenal hyperplasia that has material basis in somatic mutation in GNAS on chromosome 20q13.32.

MalaCards based summary : Acth-Independent Macronodular Adrenal Hyperplasia 1, also known as hyperplasia, adrenal, acth-independent, macronodular, type 1, is related to acth-independent macronodular adrenal hyperplasia and hormone producing pituitary cancer. An important gene associated with Acth-Independent Macronodular Adrenal Hyperplasia 1 is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Relaxin signaling pathway.

Related Diseases for Acth-Independent Macronodular Adrenal Hyperplasia 1

Diseases in the Acth-Independent Macronodular Adrenal Hyperplasia family:

Acth-Independent Macronodular Adrenal Hyperplasia 2 Acth-Independent Macronodular Adrenal Hyperplasia 1

Diseases related to Acth-Independent Macronodular Adrenal Hyperplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 32.6 POMC GNAS
2 hormone producing pituitary cancer 9.8 POMC GNAS
3 hyperpituitarism 9.8 POMC GNAS
4 dowling-degos disease 1 9.8 POMC GNAS
5 pituitary carcinoma 9.8 POMC GNAS
6 pituitary tumors 9.8 POMC GNAS
7 sex cord-gonadal stromal tumor 9.8 POMC GNAS
8 precocious puberty, male-limited 9.8 POMC GNAS
9 acth-secreting pituitary adenoma 9.8 POMC GNAS
10 pituitary adenoma 9.8 POMC GNAS
11 adenoma 9.8 POMC GNAS
12 growth hormone secreting pituitary adenoma 9.8 POMC GNAS
13 carney complex variant 9.8 POMC GNAS
14 adrenal adenoma 9.8 POMC GNAS
15 primary pigmented nodular adrenocortical disease 9.8 POMC GNAS
16 hyperprolactinemia 9.8 POMC GNAS
17 pituitary gland disease 9.8 POMC GNAS
18 thyroid gland disease 9.8 POMC GNAS
19 pituitary adenoma, prolactin-secreting 9.8 POMC GNAS
20 adrenal carcinoma 9.8 POMC GNAS
21 multiple endocrine neoplasia 9.8 POMC GNAS
22 hyperthyroidism 9.7 POMC GNAS
23 multiple endocrine neoplasia, type i 9.7 POMC GNAS
24 primary hyperparathyroidism 9.7 POMC GNAS
25 adrenal cortical carcinoma 9.7 POMC GNAS
26 acromegaly 9.7 POMC GNAS
27 conn's syndrome 9.6 POMC GNAS
28 hypothyroidism 9.6 POMC GNAS
29 chronic kidney disease 9.5 POMC GNAS

Graphical network of the top 20 diseases related to Acth-Independent Macronodular Adrenal Hyperplasia 1:



Diseases related to Acth-Independent Macronodular Adrenal Hyperplasia 1

Symptoms & Phenotypes for Acth-Independent Macronodular Adrenal Hyperplasia 1

Drugs & Therapeutics for Acth-Independent Macronodular Adrenal Hyperplasia 1

Search Clinical Trials , NIH Clinical Center for Acth-Independent Macronodular Adrenal Hyperplasia 1

Genetic Tests for Acth-Independent Macronodular Adrenal Hyperplasia 1

Anatomical Context for Acth-Independent Macronodular Adrenal Hyperplasia 1

Publications for Acth-Independent Macronodular Adrenal Hyperplasia 1

Variations for Acth-Independent Macronodular Adrenal Hyperplasia 1

Expression for Acth-Independent Macronodular Adrenal Hyperplasia 1

Search GEO for disease gene expression data for Acth-Independent Macronodular Adrenal Hyperplasia 1.

Pathways for Acth-Independent Macronodular Adrenal Hyperplasia 1

GO Terms for Acth-Independent Macronodular Adrenal Hyperplasia 1

Molecular functions related to Acth-Independent Macronodular Adrenal Hyperplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 8.62 POMC GNAS

Sources for Acth-Independent Macronodular Adrenal Hyperplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....