MCID: RRP004
MIFTS: 9

Rare Primary Hyperaldosteronism

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Rare Primary Hyperaldosteronism

MalaCards integrated aliases for Rare Primary Hyperaldosteronism:

Name: Rare Primary Hyperaldosteronism 58
Rare Primary Aldosteronism 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E26.0
UMLS via Orphanet 72 C1384514
Orphanet 58 ORPHA181415

Summaries for Rare Primary Hyperaldosteronism

MalaCards based summary : Rare Primary Hyperaldosteronism, is also known as rare primary aldosteronism. An important gene associated with Rare Primary Hyperaldosteronism is CACNA1H (Calcium Voltage-Gated Channel Subunit Alpha1 H). Affiliated tissues include kidney.

Related Diseases for Rare Primary Hyperaldosteronism

Symptoms & Phenotypes for Rare Primary Hyperaldosteronism

Drugs & Therapeutics for Rare Primary Hyperaldosteronism

Search Clinical Trials , NIH Clinical Center for Rare Primary Hyperaldosteronism

Genetic Tests for Rare Primary Hyperaldosteronism

Anatomical Context for Rare Primary Hyperaldosteronism

MalaCards organs/tissues related to Rare Primary Hyperaldosteronism:

40
Kidney

Publications for Rare Primary Hyperaldosteronism

Articles related to Rare Primary Hyperaldosteronism:

(showing 2, show less)
# Title Authors PMID Year
1
Primary Aldosteronism: Changing Definitions and New Concepts of Physiology and Pathophysiology Both Inside and Outside the Kidney. 61
27535640 2016
2
Primary aldosteronism--careful investigation is essential and rewarding. 61
15134798 2004

Variations for Rare Primary Hyperaldosteronism

ClinVar genetic disease variations for Rare Primary Hyperaldosteronism:

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1H NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val)SNV Pathogenic 189779 rs786205050 16:1262024-1262024 16:1212024-1212024

Expression for Rare Primary Hyperaldosteronism

Search GEO for disease gene expression data for Rare Primary Hyperaldosteronism.

Pathways for Rare Primary Hyperaldosteronism

GO Terms for Rare Primary Hyperaldosteronism

Sources for Rare Primary Hyperaldosteronism

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
Content
Loading form....