PHA1
MCID: PSD080
MIFTS: 44

Pseudohypoaldosteronism Type 1 (PHA1) malady

Genetic diseases, Nephrological diseases, Rare diseases, Fetal diseases, Cardiovascular diseases categories

Summaries for Pseudohypoaldosteronism Type 1

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48OMIM, 34MalaCards
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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 nacl and thiazide have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotypes are respiratory system and renal/urinary system.

Description from OMIM:48 264350

Aliases & Classifications for Pseudohypoaldosteronism Type 1

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50Orphanet, 22Genetics Home Reference, 48OMIM, 63UMLS, 27ICD10 via Orphanet
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Classifications:

Orphanet: 50 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

50
autosomal recessive pseudohypoaldosteronism type 1:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pseudohypoaldosteronism type 1 22
pseudohypoaldosteronism, type i 48 63
pseudohypoaldosteronism, type i, autosomal recessive 63
autosomal recessive pseudohypoaldosteronism type 1 50
generalized pseudohypoaldosteronism type 1 50
pseudohypoaldosteronism type i 22
pha1 22


External Ids:

OMIM48 264350
ICD10 via Orphanet27 N25.8

Related Diseases for Pseudohypoaldosteronism Type 1

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Pseudohypoaldosteronism Type 1:



Diseases related to pseudohypoaldosteronism type 1

Symptoms for Pseudohypoaldosteronism Type 1

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48OMIM
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Symptoms by clinical synopsis from OMIM:

264350

Clinical features from OMIM:

264350

Drugs & Therapeutics for Pseudohypoaldosteronism Type 1

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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

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Anatomical Context for Pseudohypoaldosteronism Type 1

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34MalaCards
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MalaCards organs/tissues related to Pseudohypoaldosteronism Type 1:

34
Lung

Animal Models for Pseudohypoaldosteronism Type 1 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Pseudohypoaldosteronism Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1SCNN1B, SCNN1A, SCNN1G
2MP:00053678.5SCNN1A, SCNN1G, NR3C2, SCNN1B
3MP:00028738.0PRSS8, SCNN1A, SCNN1B, SCNN1G
4MP:00053767.5SCNN1A, NR3C2, PRSS8, SCNN1G, SCNN1B
5MP:00053787.2PRSS8, SCNN1B, SCNN1A, SCNN1G, NEDD4, NR3C2
6MP:00107687.2NR3C2, SCNN1B, SCNN1A, SCNN1G, NEDD4, PRSS8

Publications for Pseudohypoaldosteronism Type 1

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53PubMed
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Articles related to Pseudohypoaldosteronism Type 1:

(show all 43)
idTitleAuthorsYear
1
Pseudohypoaldosteronism type 1: management issues. (23680607)
2013
2
A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1. (23813355)
2013
3
Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1. (23762408)
2013
4
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. (23416952)
2013
5
Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1. (23197115)
2013
6
Pseudohypoaldosteronism type 1: a rare cause of severe dyselectrolytemia and cardiovascular collapse in neonates. (24027733)
2012
7
A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism Type 1. (23426840)
2012
8
Pseudohypoaldosteronism type 1 in an infant. (21789870)
2011
9
Critical points in the management of pseudohypoaldosteronism type 1. (21750640)
2011
10
A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1. (21653223)
2011
11
Voltage-dependent gating underlies loss of ENaC function in Pseudohypoaldosteronism type 1. (21504729)
2011
12
Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1. (21903996)
2011
13
Pseudohypoaldosteronism type 1: the index case revisited. (19788590)
2011
14
Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy. (21932599)
2011
15
A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene. (21503203)
2011
16
Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1. (21159846)
2011
17
Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. (20453518)
2010
18
A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1. (19344080)
2009
19
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. (19912655)
2009
20
Mineralocorticoid resistance: pseudohypoaldosteronism type 1]. (17546235)
2007
21
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. (17287415)
2007
22
Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. (16757525)
2006
23
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. (16954160)
2006
24
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. (16611713)
2006
25
No evidence of hearing loss in pseudohypoaldosteronism type 1 patients. (16618647)
2006
26
Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. (15547682)
2004
27
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. (15126534)
2004
28
Gene symbol: SCNN1B. Disease: Pseudohypoaldosteronism, type 1. (15046051)
2004
29
Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. (12679457)
2003
30
Pseudohypoaldosteronism type 1 and respiratory distress syndrome. (12503866)
2002
31
Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. (11344206)
2001
32
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
33
Pseudohypoaldosteronism type 1 and respiratory distress syndrome. (10955951)
2000
34
A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. (11134129)
2000
35
Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1. (11014928)
2000
36
Pseudohypoaldosteronism type 1 in an Omani male infant simulating salt-losing congenital adrenal hyperplasia. (11500692)
2000
37
Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel. (9990093)
1999
38
A patient with pseudohypoaldosteronism type 1 and respiratory distress syndrome. (10452275)
1999
39
Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. (10586178)
1999
40
A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. (9118951)
1997
41
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. (8589714)
1996
42
A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. (8640238)
1996
43
Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. (7593448)
1995

Variations for Pseudohypoaldosteronism Type 1

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism Type 1:

65
id Symbol AA change Variation ID SNP ID
1SCNN1Ap.Ser562LeuVAR_015834
2SCNN1Ap.Gly327CysVAR_026518
3SCNN1Bp.Gly37SerVAR_007127

Clinvar genetic disease variations for Pseudohypoaldosteronism Type 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1SCNN1GSCNN1G, IVS11, G-A, -1single nucleotide variantPathogenic
2SCNN1GSCNN1G, IVSAAS, G-A, -1single nucleotide variantPathogenic
3SCNN1GSCNN1G, 1-BP DEL, 1627GdeletionPathogenic
4SCNN1BNM_000336.2(SCNN1B): c.109G> A (p.Gly37Ser)single nucleotide variantPathogenicrs137852706GRCh37Chr 16, 23360029: 23360029
5SCNN1ASCNN1A, 2-BP DEL, FS144TERdeletionPathogenic
6SCNN1ANM_001038.5(SCNN1A): c.1522C> T (p.Arg508Ter)single nucleotide variantPathogenicrs137852634GRCh37Chr 12, 6458147: 6458147
7SCNN1ASCNN1A, 1-BP DEL, 1449CdeletionPathogenic
8SCNN1ASCNN1A, 1-BP DEL, 729AdeletionPathogenic
9SCNN1ANM_001038.5(SCNN1A): c.1685C> T (p.Ser562Leu)single nucleotide variantPathogenicrs137852635GRCh37Chr 12, 6457364: 6457364

Expression for genes affiliated with Pseudohypoaldosteronism Type 1

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 54QIAGEN, 31KEGG, 13EMD Millipore, 61Thomson Reuters, 52PharmGKB
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Pathways related to Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SCNN1A, SCNN1G, SCNN1B
2
Show member pathways
9.1SCNN1B, SCNN1A, SCNN1G
3
Show member pathways
9.1SCNN1A, SCNN1G, SCNN1B
4
Show member pathways
9.1SCNN1B, SCNN1G, SCNN1A
5
Show member pathways
9.1SCNN1G, SCNN1B, SCNN1A
6
Show member pathways
9.1SCNN1A, SCNN1B, SCNN1G
79.1SCNN1G, SCNN1A, SCNN1B
89.1SCNN1G, SCNN1A, SCNN1B
9
Show member pathways
8.6SCNN1G, SCNN1A, NEDD4, SCNN1B
108.5NR3C2, SCNN1B, SCNN1A, SCNN1G
117.7SCNN1B, PRSS8, NEDD4, SCNN1G, SCNN1A

Compounds for genes affiliated with Pseudohypoaldosteronism Type 1

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46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR
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Compounds related to Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nacl469.4SCNN1A, NR3C2
2thiazide469.3SCNN1A, NR3C2
3triamterene46 25 1210.6SCNN1B, SCNN1A, SCNN1G, NR3C2
4cysteine468.5SCNN1G, NEDD4, NR3C2
5amiloride46 30 1210.5SCNN1B, SCNN1A, SCNN1G, NR3C2
6sodium46 258.2SCNN1B, SCNN1A, SCNN1G, NEDD4, PRSS8, NR3C2

GO Terms for genes affiliated with Pseudohypoaldosteronism Type 1

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17Gene Ontology
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Cellular components related to Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:0347069.2SCNN1B, SCNN1A, SCNN1G
2external side of plasma membraneGO:0098979.2SCNN1B, SCNN1G, SCNN1A
3apical plasma membraneGO:0163249.1SCNN1G, SCNN1B, SCNN1A
4integral component of plasma membraneGO:0058879.1SCNN1G, SCNN1A, SCNN1B
5extracellular vesicular exosomeGO:0700628.0SCNN1A, SCNN1G, PRSS8, SCNN1B
6plasma membraneGO:0058867.6PRSS8, SCNN1G, SCNN1B, SCNN1A, NEDD4

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal water homeostasisGO:0508919.3SCNN1A, SCNN1G, SCNN1B
2sodium ion homeostasisGO:0550789.3SCNN1B, SCNN1G, SCNN1A
3sensory perception of tasteGO:0509099.2SCNN1B, SCNN1G, SCNN1A
4excretionGO:0075889.2SCNN1B, SCNN1A, SCNN1G
5response to stimulusGO:0508969.2SCNN1B, SCNN1A, SCNN1G
6sodium ion transportGO:0068149.1SCNN1G, SCNN1A, SCNN1B
7transmembrane transportGO:0550859.1SCNN1G, SCNN1A, SCNN1B
8sodium ion transmembrane transportGO:0357259.0SCNN1B, SCNN1A, SCNN1G
9ion 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, SCNN1B, SCNN1A
2WW domain bindingGO:0506998.8SCNN1A, SCNN1G, SCNN1B
3protein bindingGO:0055157.1SCNN1B, SCNN1A, SCNN1G, NEDD4, PRSS8, NR3C2

Products for genes affiliated with Pseudohypoaldosteronism Type 1

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Sources for Pseudohypoaldosteronism Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet