MCID: ACT247
MIFTS: 16

Acth-Independent Macronodular Adrenal Hyperplasia 1

Categories: Bone 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:



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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 ADP signalling through P2Y purinoceptor 12 and cAMP signaling pathway. Related phenotype is Reduced mammosphere formation.

Related Diseases for Acth-Independent Macronodular Adrenal Hyperplasia 1

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

GenomeRNAi Phenotypes related to Acth-Independent Macronodular Adrenal Hyperplasia 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.8 GNAS IL15RA POMC

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.76 POMC GNAS
2 11.49 POMC GNAS
3 11.12 POMC GNAS
4 10.59 POMC GNAS

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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