PHA1
MCID: PSD080
MIFTS: 33

Pseudohypoaldosteronism Type 1 (PHA1) malady

Nephrological category

Summaries for Pseudohypoaldosteronism Type 1

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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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:47 264350

Aliases & Classifications for Pseudohypoaldosteronism Type 1

Sources:
21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47 61
pseudohypoaldosteronism, type i, autosomal recessive 61
autosomal recessive pseudohypoaldosteronism type 1 49
generalized pseudohypoaldosteronism type 1 49
pseudohypoaldosteronism type i 21
pha1 21


External Ids:

OMIM47 264350
ICD10 via Orphanet26 N25.8

Related Diseases for Pseudohypoaldosteronism Type 1

Sources:
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

Sources:
47OMIM
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Clinical features from OMIM:

264350

Clinical synopsis from OMIM:

264350

Drugs & Therapeutics for Pseudohypoaldosteronism Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pseudohypoaldosteronism Type 1

Drug clinical trials:

Search ClinicalTrials for Pseudohypoaldosteronism Type 1

Search NIH Clinical Center for Pseudohypoaldosteronism Type 1

Search CenterWatch for Pseudohypoaldosteronism Type 1

Genetic Tests for Pseudohypoaldosteronism Type 1

Anatomical Context for Pseudohypoaldosteronism Type 1

Sources:
33MalaCards
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MalaCards organs/tissues related to Pseudohypoaldosteronism Type 1:

33
Colon, Kidney

Animal Models for Pseudohypoaldosteronism Type 1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Pseudohypoaldosteronism Type 1:

37
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

Sources:
51PubMed
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Articles related to Pseudohypoaldosteronism Type 1:

idTitleAuthorsYear
1
Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G--&gt;A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1. (11231969)
2001
2
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. (10869238)
2000
3
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. (9171836)
1997

Genetic Variations for Pseudohypoaldosteronism Type 1

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Pseudohypoaldosteronism Type 1:

63
id Symbol AA change Variation SNP ID
1SCNN1Ap.Ser562LeuVAR_015834
2SCNN1Ap.Gly327CysVAR_026518
3SCNN1Bp.Gly37SerVAR_007127

Expression for genes affiliated with Pseudohypoaldosteronism Type 1

Sources:
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

Sources:
54Reactome, 52QIAGEN, 30KEGG, 12EMD Millipore, 50PharmGKB
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Compounds for genes affiliated with Pseudohypoaldosteronism Type 1

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1thiazide459.4NR3C2, SCNN1A
2triamterene45 11 2410.5NR3C2, SCNN1G, SCNN1A, SCNN1B
3amiloride45 29 1110.2NR3C2, SCNN1G, SCNN1A, SCNN1B
4sodium45 248.0SCNN1B, SCNN1A, SCNN1G, NEDD4, PRSS8, NR3C2

GO Terms for genes affiliated with Pseudohypoaldosteronism Type 1

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudohypoaldosteronism Type 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet