MCID: PSD095
MIFTS: 55

Pseudohypoaldosteronism, Type I malady

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

Summaries for Pseudohypoaldosteronism, Type I

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OMIM:47 Autosomal recessive pseudohypoaldosteronism type I is characterized by renal salt wasting and high concentrations of... (264350) more...

MalaCards based summary: Pseudohypoaldosteronism, Type I, also known as autosomal recessive pseudohypoaldosteronism type 1, is related to pseudohypoaldosteronism and pseudohypoaldosteronism type i, autosomal dominant, and has symptoms including autosomal recessive inheritance, renal salt wasting and hyperactive renin-angiotensin system. An important gene associated with Pseudohypoaldosteronism, Type I is SCNN1G (sodium channel, non-voltage-gated 1, gamma subunit), and among its related pathways are NO dependent CFTR activation normal and CF and Sodium channels and transporters inward current. The compounds thiazide and aldosterone have been mentioned in the context of this disorder. Affiliated tissues include colon, kidney and testes, and related mouse phenotypes are respiratory system and renal/urinary system.

Genetics Home Reference:23 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.

NIH Rare Diseases:43 Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. the disorder involves multiple organ systems and is especially dangerous in the newborn period. laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the blood. respiratory tract infections are common in affected children. treatment involves aggressive salt replacement and control of hyperkalemia. the disorder may become less severe with age. autosomal recessive pseudohypoaldosteronism type 1 (pha1b) is transmitted in an autosomal recessive manner and is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (scnn1a, scnn1b and scnn1g). last updated: 12/2/2011

Aliases & Classifications for Pseudohypoaldosteronism, Type I

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 24GTR, 22GeneTests, 23Genetics Home Reference, 28ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Pseudohypoaldosteronism, Type I, Aliases & Descriptions:

Name: Pseudohypoaldosteronism, Type I 47 11
Autosomal Recessive Pseudohypoaldosteronism Type 1 43 49
Pseudohypoaldosteronism Type 1 Autosomal Recessive 43 24
Generalized Pseudohypoaldosteronism Type 1 43 49
Pseudohypoaldosteronism Type 1, Recessive 43 22
Pseudohypoaldosteronism Type 1 23 49
 
Pseudohypoaldosteronism Type I 23
Generalized Pha1 43
Pha Type 1 49
Pha1b 43
Pha1 23


Classifications:

Orphanet: 49 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

49
autosomal recessive pseudohypoaldosteronism type 1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
pseudohypoaldosteronism type 1:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM47 264350
Orphanet49 171876, 756
ICD10 via Orphanet28 N25.8
UMLS via Orphanet63 C0268436, C1449843
MESH via Orphanet36 D011546

Related Diseases for Pseudohypoaldosteronism, Type I

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Graphical network of diseases related to Pseudohypoaldosteronism, Type I:



Diseases related to pseudohypoaldosteronism, type i

Symptoms for Pseudohypoaldosteronism, Type I

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Symptoms by clinical synopsis from OMIM:

264350

Clinical features from OMIM:

264350

HPO human phenotypes related to Pseudohypoaldosteronism, Type I:

(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 I

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Drug clinical trials:

Search ClinicalTrials for Pseudohypoaldosteronism, Type I

Search NIH Clinical Center for Pseudohypoaldosteronism, Type I

Genetic Tests for Pseudohypoaldosteronism, Type I

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Genetic tests related to Pseudohypoaldosteronism, Type I:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 1, Recessive22 SCNN1G
2 Pseudohypoaldosteronism Type 1 Autosomal Recessive24

Anatomical Context for Pseudohypoaldosteronism, Type I

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MalaCards organs/tissues related to Pseudohypoaldosteronism, Type I:

33
Colon, Kidney, Testes

Animal Models for Pseudohypoaldosteronism, Type I or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoaldosteronism, Type I:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.3SCNN1B, SCNN1A, SCNN1G, EPHA3
2MP:00053678.2NR3C2, SGK1, SCNN1G, SCNN1A, SCNN1B
3MP:00107687.9NR3C2, EPHA3, SCNN1G, SCNN1A, SCNN1B
4MP:00053787.8SCNN1B, SCNN1A, SCNN1G, SGK1, NR3C2
5MP:00053767.3SCNN1B, SCNN1A, SCNN1G, SGK1, EPHA3, NR3C2

Publications for Pseudohypoaldosteronism, Type I

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Articles related to Pseudohypoaldosteronism, Type I:

idTitleAuthorsYear
1
Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. (25548639)
2014
2
Pseudohypoaldosteronism type-I: a rare cause of hyperkalemia in neonates. (24864655)
2014
3
Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families. (17317952)
2007
4
Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: exclusion of claudin-8 as a candidate gene. (15345917)
2004
5
A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). (14715854)
2004
6
Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its alpha subunit. (10510337)
1999
7
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. (9662404)
1998
8
A partial form of pseudohypoaldosteronism type I without renal sodium wasting. (8186826)
1994
9
Contribution to problems of pseudohypoaldosteronism type I in children. (8259090)
1993
10
Prostaglandin excretion in pseudohypoaldosteronism type I. (3535337)
1986

Variations for Pseudohypoaldosteronism, Type I

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UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism, Type I:

64
id Symbol AA change Variation ID SNP ID
1SCNN1Ap.Ser562LeuVAR_015834
2SCNN1Ap.Gly327CysVAR_026518
3SCNN1Bp.Gly37SerVAR_007127

Clinvar genetic disease variations for Pseudohypoaldosteronism, Type I:

7 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1NR3C2NR3C2, 1-BP DEL, 1226GdeletionPathogenic
2NR3C2NR3C2, 1-BP DEL, 1597TdeletionPathogenic
3NR3C2NM_000901.4(NR3C2): c.1609C> T (p.Arg537Ter)single nucleotide variantPathogenicrs121912562GRCh37Chr 4, 149356404: 149356404
4NR3C2NR3C2, IVS5, 1-BP DEL, A, +3deletionPathogenic
5NR3C2NR3C2, 1-BP INS, 2871CinsertionPathogenic
6NR3C2NM_000901.4(NR3C2): c.2771T> C (p.Leu924Pro)single nucleotide variantPathogenicrs121912563GRCh37Chr 4, 149035283: 149035283
7NR3C2NR3C2, 1-BP INS, 1354TinsertionPathogenic
8NR3C2NR3C2, 8-BP DEL, NT537deletionPathogenic
9NR3C2NM_000901.4(NR3C2): c.1935C> A (p.Cys645Ter)single nucleotide variantPathogenicrs121912564GRCh37Chr 4, 149115976: 149115976
10NR3C2NM_000901.4(NR3C2): c.2327A> G (p.Gln776Arg)single nucleotide variantPathogenicrs121912565GRCh37Chr 4, 149075740: 149075740
11NR3C2NM_000901.4(NR3C2): c.1897G> A (p.Gly633Arg)single nucleotide variantPathogenicrs121912566GRCh37Chr 4, 149181130: 149181130
12NR3C2NM_000901.4(NR3C2): c.2936T> C (p.Leu979Pro)single nucleotide variantPathogenicrs121912567GRCh37Chr 4, 149002514: 149002514
13NR3C2NM_000901.4(NR3C2): c.488C> G (p.Ser163Ter)single nucleotide variantPathogenicrs121912568GRCh37Chr 4, 149357525: 149357525
14NR3C2NM_000901.4(NR3C2): c.2839C> T (p.Arg947Ter)single nucleotide variantPathogenicrs121912569GRCh37Chr 4, 149002611: 149002611
15NR3C2NM_000901.4(NR3C2): c.1308T> A (p.Cys436Ter)single nucleotide variantPathogenicrs121912570GRCh37Chr 4, 149356705: 149356705
16NR3C2NM_000901.4(NR3C2): c.2017C> T (p.Arg673Ter)single nucleotide variantPathogenicrs121912571GRCh37Chr 4, 149076050: 149076050
17NR3C2NM_000901.4(NR3C2): c.2024C> G (p.Ser675Ter)single nucleotide variantPathogenicrs121912572GRCh37Chr 4, 149076043: 149076043
18NR3C2NM_000901.4(NR3C2): c.2453C> T (p.Ser818Leu)single nucleotide variantPathogenicrs121912573GRCh37Chr 4, 149073677: 149073677
19NR3C2NM_000901.4(NR3C2): c.2915A> G (p.Glu972Gly)single nucleotide variantPathogenicrs121912574GRCh37Chr 4, 149002535: 149002535
20SCNN1GSCNN1G, IVS11, G-A, -1single nucleotide variantPathogenic
21SCNN1GSCNN1G, IVSAAS, G-A, -1single nucleotide variantPathogenic
22SCNN1GSCNN1G, 1-BP DEL, 1627GdeletionPathogenic
23SCNN1BNM_000336.2(SCNN1B): c.109G> A (p.Gly37Ser)single nucleotide variantPathogenicrs137852706GRCh37Chr 16, 23360029: 23360029
24SCNN1ASCNN1A, 2-BP DEL, FS144TERdeletionPathogenic
25SCNN1ANM_001038.5(SCNN1A): c.1522C> T (p.Arg508Ter)single nucleotide variantPathogenicrs137852634GRCh37Chr 12, 6458147: 6458147
26SCNN1ASCNN1A, 1-BP DEL, 1449CdeletionPathogenic
27SCNN1ASCNN1A, 1-BP DEL, 729AdeletionPathogenic
28SCNN1ANM_001038.5(SCNN1A): c.1685C> T (p.Ser562Leu)single nucleotide variantPathogenicrs137852635GRCh37Chr 12, 6457364: 6457364

Expression for genes affiliated with Pseudohypoaldosteronism, Type I

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Search GEO for disease gene expression data for Pseudohypoaldosteronism, Type I.

Pathways for genes affiliated with Pseudohypoaldosteronism, Type I

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Pathways related to Pseudohypoaldosteronism, Type I according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2SCNN1B, SCNN1A, SCNN1G
2
Show member pathways
9.2SCNN1B, SCNN1A, SCNN1G
3
Show member pathways
9.2SCNN1G, SCNN1A, SCNN1B
4
Show member pathways
9.2SCNN1G, SCNN1A, SCNN1B
5
Show member pathways
9.2SCNN1G, SCNN1A, SCNN1B
69.2SCNN1G, SCNN1A, SCNN1B
7
Show member pathways
8.6SCNN1B, SCNN1A, SCNN1G, SGK1
88.6SCNN1B, SCNN1A, SCNN1G, SGK1
9
Show member pathways
8.6SGK1, SCNN1G, SCNN1A, SCNN1B
10
Show member pathways
8.4SCNN1B, SCNN1A, SCNN1G, EPHA3
118.1NR3C2, SGK1, SCNN1G, SCNN1A, SCNN1B

Compounds for genes affiliated with Pseudohypoaldosteronism, Type I

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Compounds related to Pseudohypoaldosteronism, Type I according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1thiazide459.7NR3C2, SCNN1A
2aldosterone30 26 1311.6NR3C2, SGK1
3spironolactone45 61 30 51 1313.5NR3C2, SGK1
411beta-hydroxysteroid459.4SGK1, NR3C2
5mifepristone45 30 61 1312.3SGK1, NR3C2
6actinomycin d459.1SCNN1A, SGK1, NR3C2
7triamterene45 26 1311.0NR3C2, SCNN1G, SCNN1A, SCNN1B
8amiloride45 30 1311.0SCNN1B, SCNN1A, SCNN1G, NR3C2
9dexamethasone45 51 30 1311.8NR3C2, SGK1, SCNN1A
10potassium45 26 1310.7NR3C2, EPHA3, SGK1
11glutamate458.5NR3C2, EPHA3, SGK1
12phosphatidylinositol458.2SGK1, EPHA3, NR3C2
13tyrosine458.2NR3C2, EPHA3, SGK1, SCNN1G
14sodium45 268.5SCNN1B, SCNN1A, SCNN1G, SGK1, EPHA3, NR3C2

GO Terms for genes affiliated with Pseudohypoaldosteronism, Type I

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Cellular components related to Pseudohypoaldosteronism, Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:00347069.3SCNN1G, SCNN1A, SCNN1B
2external side of plasma membraneGO:00098979.2SCNN1B, SCNN1A, SCNN1G
3apical plasma membraneGO:00163249.1SCNN1G, SCNN1A, SCNN1B
4integral component of plasma membraneGO:00058878.1SCNN1B, SCNN1A, SCNN1G, EPHA3
5plasma membraneGO:00058868.1CLDN8, SGK1, SCNN1G, SCNN1A, SCNN1B

Biological processes related to Pseudohypoaldosteronism, Type I according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal water homeostasisGO:00508919.4SCNN1G, SCNN1A, SCNN1B
2sodium ion homeostasisGO:00550789.4SCNN1B, SCNN1A, SCNN1G
3sensory perception of tasteGO:00509099.3SCNN1G, SCNN1A, SCNN1B
4excretionGO:00075889.2SCNN1G, SCNN1A, SCNN1B
5response to stimulusGO:00508969.1SCNN1B, SCNN1A, SCNN1G
6sodium ion transmembrane transportGO:00357258.9SCNN1G, SCNN1A, SCNN1B
7sodium ion transportGO:00068148.8SGK1, SCNN1G, SCNN1A, SCNN1B
8ion transmembrane transportGO:00342208.7SCNN1B, SCNN1A, SCNN1G, SGK1
9transmembrane transportGO:00550858.6SGK1, SCNN1G, SCNN1A, SCNN1B

Molecular functions related to Pseudohypoaldosteronism, Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1WW domain bindingGO:00506999.2SCNN1G, SCNN1A, SCNN1B
2ligand-gated sodium channel activityGO:00152808.9SCNN1G, SCNN1A, SCNN1B

Products for genes affiliated with Pseudohypoaldosteronism, Type I

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Sources for Pseudohypoaldosteronism, Type I

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4CDC
15ExPASy
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24GTR
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26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
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35MeSH
36MESH via Orphanet
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48OMIM via Orphanet
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58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet