MCID: RRP004
MIFTS: 10

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 59
Rare Primary Aldosteronism 59

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 34 E26.0
UMLS via Orphanet 73 C1384514
Orphanet 59 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:

41
Kidney

Publications for Rare Primary Hyperaldosteronism

Articles related to Rare Primary Hyperaldosteronism:

# Title Authors PMID Year
1
Primary Aldosteronism: Changing Definitions and New Concepts of Physiology and Pathophysiology Both Inside and Outside the Kidney. 38
27535640 2016
2
Primary aldosteronism--careful investigation is essential and rewarding. 38
15134798 2004

Variations for Rare Primary Hyperaldosteronism

ClinVar genetic disease variations for Rare Primary Hyperaldosteronism:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1H NM_021098.3(CACNA1H): c.4645A> G (p.Met1549Val) single nucleotide variant Pathogenic 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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