MCID: ADR035
MIFTS: 28

Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

Categories: Cancer diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

MalaCards integrated aliases for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion:

Name: Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion 58
Pure Aldosterone-Producing Adrenocortical Carcinoma 58
Pure Aldosterone-Secreting Adrenocortical Carcinoma 58
Pure Apac 58

Characteristics:

Orphanet epidemiological data:

58
adrenocortical carcinoma with pure aldosterone hypersecretion
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

MalaCards based summary : Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion, also known as pure aldosterone-producing adrenocortical carcinoma, is related to adrenocortical carcinoma, hereditary and adrenal cortical carcinoma. An important gene associated with Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion is ATP1A1 (ATPase Na+/K+ Transporting Subunit Alpha 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. Affiliated tissues include adrenal gland, cortex and thyroid, and related phenotypes are hypertension and neoplasm of the adrenal gland

Related Diseases for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

Diseases related to Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 adrenocortical carcinoma, hereditary 10.2
2 adrenal cortical carcinoma 10.2
3 adrenal cortical adenocarcinoma 10.2
4 aldosterone-producing adenoma 9.6 ATP2B3 ATP1A1
5 adenoma 9.5 ATP2B3 ATP1A1
6 hyperaldosteronism, familial, type i 9.5 ATP2B3 ATP1A1
7 adrenal gland disease 9.5 ATP2B3 ATP1A1
8 adrenal adenoma 9.4 ATP2B3 ATP1A1
9 conn's syndrome 9.2 ATP2B3 ATP1A1

Graphical network of the top 20 diseases related to Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion:



Diseases related to Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

Symptoms & Phenotypes for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

Human phenotypes related to Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 obligate (100%) Obligate (100%) HP:0000822
2 neoplasm of the adrenal gland 58 31 obligate (100%) Obligate (100%) HP:0100631
3 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
4 hypokalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002900
5 decreased circulating renin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003351
6 glucocortocoid-insensitive primary hyperaldosteronism 58 31 hallmark (90%) Very frequent (99-80%) HP:0011740
7 metabolic alkalosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200114
8 increased circulating cortisol level 31 hallmark (90%) HP:0003118
9 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
10 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
11 abnormal t-wave 58 31 frequent (33%) Frequent (79-30%) HP:0005135
12 palpitations 58 31 frequent (33%) Frequent (79-30%) HP:0001962
13 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
14 increased urinary potassium 58 31 frequent (33%) Frequent (79-30%) HP:0003081
15 epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000421
16 intracranial hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002170
17 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
18 tinnitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000360
19 hypercortisolism 58 Very frequent (99-80%)

Drugs & Therapeutics for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

Search Clinical Trials , NIH Clinical Center for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

Genetic Tests for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

Anatomical Context for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

MalaCards organs/tissues related to Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion:

40
Adrenal Gland, Cortex, Thyroid

Publications for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

Articles related to Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion:

# Title Authors PMID Year
1
Pure aldosterone-secreting adrenocortical carcinoma in a patient with refractory primary hyperaldosteronism. 61
26273475 2015

Variations for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

ClinVar genetic disease variations for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP1A1 NM_000701.8(ATP1A1):c.299_313del (p.Phe100_Leu104del)deletion Pathogenic 162465 rs724160008 1:116930023-116930037 1:116387401-116387415
2 ATP1A1 NM_000701.8(ATP1A1):c.311T>G (p.Leu104Arg)SNV Pathogenic 162466 rs11540945 1:116930037-116930037 1:116387415-116387415
3 ATP1A1 NM_000701.8(ATP1A1):c.995T>G (p.Val332Gly)SNV Pathogenic 162468 rs724160010 1:116932301-116932301 1:116389679-116389679
4 ATP2B3 NM_001001344.2(ATP2B3):c.1272_1277del (p.Leu425_Val426del)deletion Pathogenic 162467 rs724160009 X:152814244-152814249 X:153548786-153548791
5 ATP2B3 NM_001001344.2(ATP2B3):c.1273_1278del (p.Leu425_Val426del)deletion Pathogenic 162469 rs724160011 X:152814247-152814252 X:153548789-153548794
6 ATP2B3 NM_001001344.2(ATP2B3):c.1277_1282del (p.Val426_Val427del)deletion Pathogenic 162470 rs724160012 X:152814248-152814253 X:153548790-153548795

Expression for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

Search GEO for disease gene expression data for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion.

Pathways for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

Pathways related to Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 ATP2B3 ATP1A1
2
Show member pathways
12.16 ATP2B3 ATP1A1
3
Show member pathways
11.9 ATP2B3 ATP1A1
4
Show member pathways
11.86 ATP2B3 ATP1A1
5 11.66 ATP2B3 ATP1A1
6
Show member pathways
11.48 ATP2B3 ATP1A1
7 11.16 ATP2B3 ATP1A1
8 10.72 ATP2B3 ATP1A1
9 10.35 ATP2B3 ATP1A1

GO Terms for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

Cellular components related to Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular vesicle GO:1903561 8.62 ATP2B3 ATP1A1

Biological processes related to Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.16 ATP2B3 ATP1A1
2 ion transmembrane transport GO:0034220 8.96 ATP2B3 ATP1A1
3 regulation of cardiac conduction GO:1903779 8.62 ATP2B3 ATP1A1

Sources for Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion

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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