PHA1
MCID: PSD080
MIFTS: 37

Pseudohypoaldosteronism Type 1 (PHA1) malady

Nephrological diseases category

Summaries for Pseudohypoaldosteronism Type 1

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. However, sodium can also be removed from the body through other tissues, such as the sweat glands and colon. Pseudohypoaldosteronism type 1 is named for its characteristic signs and symptoms, which mimic (pseudo) low levels (hypo) of a hormone called aldosterone that helps regulate sodium levels. However, people with PHA1 have high levels of aldosterone.

MalaCards: Pseudohypoaldosteronism Type 1, also known as pseudohypoaldosteronism, type i, is related to pseudohypoaldosteronism and autosomal recessive pseudohypoaldosteronism type 1. An important gene associated with Pseudohypoaldosteronism Type 1 is SCNN1A (sodium channel, non-voltage-gated 1 alpha subunit), and among its related pathways are Ion channel transport and G-Beta Gamma Signaling. The compounds thiazide and triamterene have been mentioned in the context of this disorder. Affiliated tissues include colon and kidney, and related mouse phenotypes are renal/urinary system and normal.

Description from OMIM:46 264350

Aliases & Classifications for Pseudohypoaldosteronism Type 1

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21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases


Characteristics (Orphanet epidemiological data):

48
autosomal recessive pseudohypoaldosteronism type 1:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pseudohypoaldosteronism type 1 21
pseudohypoaldosteronism, type i 46 60
pseudohypoaldosteronism, type i, autosomal recessive 60
autosomal recessive pseudohypoaldosteronism type 1 48
generalized pseudohypoaldosteronism type 1 48
pseudohypoaldosteronism type i 21
pha1 21


External Ids:

OMIM46 264350
ICD10 via Orphanet26 N25.8

Related Diseases for Pseudohypoaldosteronism Type 1

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Pseudohypoaldosteronism Type 1:



Diseases related to pseudohypoaldosteronism type 1

Clinical Features for Pseudohypoaldosteronism Type 1

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46OMIM
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Clinical features from OMIM:

264350

Clinical synopsis from OMIM:

264350

Drugs & Therapeutics for Pseudohypoaldosteronism Type 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Pseudohypoaldosteronism Type 1

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Genetic Tests for Pseudohypoaldosteronism Type 1

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Anatomical Context for Pseudohypoaldosteronism Type 1

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32MalaCards
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MalaCards organs/tissues related to Pseudohypoaldosteronism Type 1:

32
Colon, Kidney

Animal Models for Pseudohypoaldosteronism Type 1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pseudohypoaldosteronism Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5SCNN1B, SCNN1A, SCNN1G, NR3C2
2MP:00028738.3PRSS8, SCNN1G, SCNN1A, SCNN1B
3MP:00053787.4SCNN1B, SCNN1G, NEDD4, PRSS8, NR3C2
4MP:00053767.3SCNN1B, SCNN1A, SCNN1G, PRSS8, NR3C2
5MP:00107687.2NR3C2, PRSS8, NEDD4, SCNN1G, SCNN1A, SCNN1B

Publications for Pseudohypoaldosteronism Type 1

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Genetic Variations for Pseudohypoaldosteronism Type 1

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Pseudohypoaldosteronism Type 1:

62
id Symbol AA change Variation ID SNP ID
1SCNN1Ap.Ser562LeuVAR_015834
2SCNN1Ap.Gly327CysVAR_026518
3SCNN1Bp.Gly37SerVAR_007127

Expression for genes affiliated with Pseudohypoaldosteronism Type 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudohypoaldosteronism Type 1

Search GEO for disease gene expression data for Pseudohypoaldosteronism Type 1.

Pathways for genes affiliated with Pseudohypoaldosteronism Type 1

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53Reactome, 51QIAGEN, 29KEGG, 12EMD Millipore, 49PharmGKB
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Compounds for genes affiliated with Pseudohypoaldosteronism Type 1

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1thiazide449.4NR3C2, SCNN1A
2triamterene44 11 2410.5NR3C2, SCNN1G, SCNN1A, SCNN1B
3amiloride44 28 1110.2NR3C2, SCNN1G, SCNN1A, SCNN1B
4sodium44 248.0SCNN1B, SCNN1A, SCNN1G, NEDD4, PRSS8, NR3C2

GO Terms for genes affiliated with Pseudohypoaldosteronism Type 1

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16Gene Ontology
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Cellular components related to Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:0347069.1SCNN1G, SCNN1A, SCNN1B
2external side of plasma membraneGO:0098979.0SCNN1G, SCNN1A, SCNN1B
3apical plasma membraneGO:0163248.8SCNN1B, SCNN1A, SCNN1G
4plasma membraneGO:0058867.7PRSS8, NEDD4, SCNN1G, SCNN1A, SCNN1B

Biological processes related to Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of tasteGO:0509099.2SCNN1G, SCNN1A, SCNN1B
2excretionGO:0075889.2SCNN1B, SCNN1A, SCNN1G
3response to stimulusGO:0508969.1SCNN1G, SCNN1A, SCNN1B
4transmembrane transportGO:0550859.1SCNN1G, SCNN1A, SCNN1B
5sodium ion transportGO:0068149.0SCNN1B, SCNN1A, SCNN1G
6ion transmembrane transportGO:0342208.8SCNN1G, SCNN1A, SCNN1B

Molecular functions related to Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ligand-gated sodium channel activityGO:0152809.0SCNN1G, SCNN1A, SCNN1B
2WW domain bindingGO:0506998.8SCNN1G, SCNN1A, SCNN1B
3protein bindingGO:0055157.1SCNN1A, SCNN1G, NEDD4, PRSS8, NR3C2, SCNN1B

Products for genes affiliated with Pseudohypoaldosteronism Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudohypoaldosteronism Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet