PHA1
MCID: PSD080
MIFTS: 50

Pseudohypoaldosteronism Type 1 (PHA1) malady

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

Summaries for Pseudohypoaldosteronism Type 1

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OMIM:46 Autosomal recessive pseudohypoaldosteronism type I is characterized by renal salt wasting and high concentrations of... (264350) more...

MalaCards based summary: Pseudohypoaldosteronism Type 1, also known as pseudohypoaldosteronism, type i, is related to pseudohypoaldosteronism and autosomal dominant pseudohypoaldosteronism type 1, and has symptoms including autosomal recessive inheritance, renal salt wasting and hyperactive renin-angiotensin system. 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 colon, kidney and lung, and related mouse phenotypes are respiratory system and renal/urinary system.

Genetics Home Reference:22 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.

Aliases & Classifications for Pseudohypoaldosteronism Type 1

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Sources:
48Orphanet, 22Genetics Home Reference, 46OMIM, 61UMLS, 27ICD10 via Orphanet
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Pseudohypoaldosteronism Type 1, Aliases & Descriptions:

Name: Pseudohypoaldosteronism Type 1 22
Pseudohypoaldosteronism, Type I 46 61
Pseudohypoaldosteronism Type 1, Autosomal Recessive 61
Autosomal Recessive Pseudohypoaldosteronism Type 1 48
 
Generalized Pseudohypoaldosteronism Type 1 48
Pseudohypoaldosteronism Type I 22
Pha1 22


Classifications:

Orphanet: 48 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 264350
ICD10 via Orphanet27 N25.8

Related Diseases for Pseudohypoaldosteronism Type 1

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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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Symptoms by clinical synopsis from OMIM:

264350

Clinical features from OMIM:

264350

HPO human phenotypes related to Pseudohypoaldosteronism Type 1:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 renal salt wasting HP:0000127
3 hyperactive renin-angiotensin system HP:0000841
4 hyperaldosteronism HP:0000859
5 failure to thrive HP:0001508
6 metabolic acidosis HP:0001942
7 dehydration HP:0001944
8 vomiting HP:0002013
9 diarrhea HP:0002014
10 hyperkalemia HP:0002153
11 recurrent respiratory infections HP:0002205
12 hypotension HP:0002615
13 hyponatremia HP:0002902
14 infantile onset HP:0003593
15 pseudohypoaldosteronism HP:0008242
16 feeding difficulties in infancy HP:0008872

Drugs & Therapeutics for Pseudohypoaldosteronism Type 1

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Drug clinical trials:

Search ClinicalTrials for Pseudohypoaldosteronism Type 1

Search NIH Clinical Center for Pseudohypoaldosteronism Type 1

Genetic Tests for Pseudohypoaldosteronism Type 1

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Anatomical Context for Pseudohypoaldosteronism Type 1

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MalaCards organs/tissues related to Pseudohypoaldosteronism Type 1:

32
Colon, Kidney, Lung

Animal Models for Pseudohypoaldosteronism Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoaldosteronism Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1SCNN1G, SCNN1A, SCNN1B
2MP:00053678.5SCNN1B, SCNN1A, SCNN1G, NR3C2
3MP:00028738.0SCNN1B, SCNN1A, SCNN1G, PRSS8
4MP:00053767.5NR3C2, PRSS8, SCNN1G, SCNN1A, SCNN1B
5MP:00053787.2NR3C2, PRSS8, NEDD4, SCNN1G, SCNN1A, SCNN1B
6MP:00107687.2SCNN1B, SCNN1A, SCNN1G, NEDD4, PRSS8, NR3C2

Publications for Pseudohypoaldosteronism Type 1

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Articles related to Pseudohypoaldosteronism Type 1:

(show all 46)
idTitleAuthorsYear
1
Pseudohypoaldosteronism type 1 secondary to vesicoureteral reflux: An endocrinologic emergency. (25043099)
2014
2
Pseudohypoaldosteronism type 1: management issues. (23680607)
2013
3
Pseudohypoaldosteronism type 1: clinical features and management in infancy. (24616761)
2013
4
A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1. (23813355)
2013
5
Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1. (23762408)
2013
6
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. (24455331)
2013
7
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. (23416952)
2013
8
Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1. (23197115)
2013
9
Pseudohypoaldosteronism type 1: a rare cause of severe dyselectrolytemia and cardiovascular collapse in neonates. (24027733)
2012
10
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
11
Pseudohypoaldosteronism type 1 in an infant. (21789870)
2011
12
Critical points in the management of pseudohypoaldosteronism type 1. (21750640)
2011
13
A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1. (21653223)
2011
14
Voltage-dependent gating underlies loss of ENaC function in Pseudohypoaldosteronism type 1. (21504729)
2011
15
Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1. (21903996)
2011
16
Pseudohypoaldosteronism type 1: the index case revisited. (19788590)
2011
17
Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy. (21932599)
2011
18
A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene. (21503203)
2011
19
Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1. (21159846)
2011
20
Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. (20453518)
2010
21
A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1. (19344080)
2009
22
Case report: severe neonatal hyperkalemia due to pseudohypoaldosteronism type 1. (19657313)
2009
23
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. (19912655)
2009
24
Mineralocorticoid resistance: pseudohypoaldosteronism type 1]. (17546235)
2007
25
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
26
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. (16954160)
2006
27
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. (16611713)
2006
28
No evidence of hearing loss in pseudohypoaldosteronism type 1 patients. (16618647)
2006
29
Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. (15547682)
2004
30
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. (15126534)
2004
31
Gene symbol: SCNN1B. Disease: Pseudohypoaldosteronism, type 1. (15046051)
2004
32
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
33
Pseudohypoaldosteronism type 1 and respiratory distress syndrome. (12503866)
2002
34
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
35
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
36
Pseudohypoaldosteronism type 1 and respiratory distress syndrome. (10955951)
2000
37
A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. (11134129)
2000
38
Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1. (11014928)
2000
39
Pseudohypoaldosteronism type 1 in an Omani male infant simulating salt-losing congenital adrenal hyperplasia. (11500692)
2000
40
Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel. (9990093)
1999
41
A patient with pseudohypoaldosteronism type 1 and respiratory distress syndrome. (10452275)
1999
42
Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. (10586178)
1999
43
A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. (9118951)
1997
44
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. (8589714)
1996
45
A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. (8640238)
1996
46
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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UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism Type 1:

63
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:

7
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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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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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
9.1SCNN1B, SCNN1A, SCNN1G
2
Show member pathways
9.1SCNN1G, SCNN1A, SCNN1B
3
Show member pathways
9.1SCNN1B, SCNN1A, SCNN1G
4
Show member pathways
9.1SCNN1G, SCNN1A, SCNN1B
5
Show member pathways
9.1SCNN1G, SCNN1A, SCNN1B
6
Show member pathways
9.1SCNN1G, SCNN1A, SCNN1B
79.1SCNN1G, SCNN1A, SCNN1B
89.1SCNN1B, SCNN1A, SCNN1G
9
Show member pathways
8.6SCNN1B, SCNN1A, SCNN1G, NEDD4
108.5SCNN1B, SCNN1A, SCNN1G, NR3C2
117.7PRSS8, NEDD4, SCNN1G, SCNN1A, SCNN1B

Compounds for genes affiliated with Pseudohypoaldosteronism Type 1

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Sources:
44Novoseek, 25HMDB, 12DrugBank, 29IUPHAR
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Compounds related to Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nacl449.4NR3C2, SCNN1A
2thiazide449.3NR3C2, SCNN1A
3triamterene44 25 1210.6NR3C2, SCNN1G, SCNN1A, SCNN1B
4cysteine448.5NR3C2, NEDD4, SCNN1G
5amiloride44 29 1210.5SCNN1B, SCNN1A, SCNN1G, NR3C2
6sodium44 258.2SCNN1B, SCNN1A, SCNN1G, NEDD4, PRSS8, NR3C2

GO Terms for genes affiliated with Pseudohypoaldosteronism Type 1

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

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

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal water homeostasisGO:0508919.3SCNN1G, SCNN1A, SCNN1B
2sodium ion homeostasisGO:0550789.3SCNN1G, SCNN1A, SCNN1B
3sensory perception of tasteGO:0509099.2SCNN1B, SCNN1A, SCNN1G
4excretionGO:0075889.2SCNN1G, SCNN1A, SCNN1B
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, 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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Sources for Pseudohypoaldosteronism Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet