MCID: PSD095
MIFTS: 50

Pseudohypoaldosteronism, Type I malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Cardiovascular diseases

Aliases & Classifications for Pseudohypoaldosteronism, Type I

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Sources:
50OMIM, 12diseasecard, 66UMLS, 46NIH Rare Diseases, 52Orphanet, 23GeneTests, 68UniProtKB/Swiss-Prot, 24Genetics Home Reference, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pseudohypoaldosteronism, Type I:

Name: Pseudohypoaldosteronism, Type I 50 12 66
Pseudohypoaldosteronism, Type I, Autosomal Recessive 50 66
Pseudohypoaldosteronism Type I, Autosomal Recessive 68 25
Autosomal Recessive Pseudohypoaldosteronism Type 1 46 52
Generalized Pseudohypoaldosteronism Type 1 46 52
Pseudohypoaldosteronism Type 1, Recessive 46 23
Pseudohypoaldosteronism Type 1 24 52
Pha1b 46 68
 
Pha1 23 24
Pseudohypoaldosteronism Type 1 Autosomal Recessive 46
Pseudohypoaldosteronism 1, Autosomal Recessive 68
Multisystem Pseudohypoaldosteronism 68
Pha Type I, Autosomal Recessive 68
Pseudohypoaldosteronism Type I 24
Generalized Pha1 46
Pha Type 1 52

Characteristics:

Orphanet epidemiological data:

52
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

HPO:

62
pseudohypoaldosteronism, type i:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:

Orphanet: 52 
Rare renal diseases


External Ids:

OMIM50 264350
ICD10 via Orphanet29 N25.8
MESH via Orphanet38 D011546
UMLS via Orphanet67 C0268436, C1449843
MedGen35 C1449843
MeSH37 D011546

Summaries for Pseudohypoaldosteronism, Type I

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OMIM:50 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 pseudohypoaldosteronism, type i, autosomal recessive, is related to pseudohypoaldosteronism type i, autosomal dominant and pseudohypoaldosteronism, and has symptoms including diarrhea, diarrhea and vomiting. An important gene associated with Pseudohypoaldosteronism, Type I is SCNN1A (Sodium Channel Epithelial 1 Alpha Subunit), and among its related pathways are Taste transduction and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). Affiliated tissues include testes, kidney and colon, and related mouse phenotypes are respiratory system and renal/urinary system.

Genetics Home Reference:24 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:46 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

UniProtKB/Swiss-Prot:68 Pseudohypoaldosteronism 1, autosomal recessive: A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.

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

UMLS symptoms related to Pseudohypoaldosteronism, Type I:


diarrhea, vomiting

Drugs & Therapeutics for Pseudohypoaldosteronism, Type I

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Drugs for Pseudohypoaldosteronism, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitorsPhase 25157
Synonyms:
 
protease inhibitors
2
EnalaprilatPhase 211776420-72-96917719
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid dihydrate
1-((2S)-2-{[(1S)-1-CARBOXY-3-PHENYLPROPYL]AMINO}PROPANOYL)-L-PROLINE
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline dihydrate
76420-72-9
AC1NUWEA
AC1OCEK7
BIDD:GT0752
C11720
C18H24N2O5.2H2O
CHEBI:116759
CHEBI:42302
CHEBI:4786
CHEBI:59877
CHEMBL1200697
CHEMBL577
CID5462501
CID6917719
CPD000466359
D03769
EAL
ENALAPRILAT INHIBITOR
Enalapril acid
Enalapril diacid
Enalaprilat
Enalaprilat (USP)
 
Enalaprilat anhydrous
Enalaprilate
Enalaprilatum
Enalaprilic acid
Enalprilate hydrate
HMS2051H16
HMS2089P04
LS-118903
LS-187219
MK-422
MLS000759476
MLS001424138
MolPort-005-943-792
N-[(1S)-1-Carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline--water (1/2)
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline—water (1/2)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalaprilat dihydrate
enalaprilat hydrate
enalprilat hydrate
enalprilate hydrate
3
EnalaprilPhase 211775847-73-35362032, 40466924
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N-(1-(Ethoxycarbonyl)-3-phenylpropyl)-L-alanyl)-L-proline
(S)-1-{(S)-2-[1-((S)-ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester
75847-73-3
AC1NTUS5
Analapril
BIDD:GT0751
BPBio1_000340
BSPBio_000308
BSPBio_003035
Bonuten
C06977
CAS-76095-16-4
CHEBI:116847
CHEBI:4784
CHEMBL578
CID5388962
D07892
DivK1c_000408
Enalapril
Enalapril (INN)
Enalapril (TN)
Enalapril Bp
Enalapril Maleate
Enalapril Richet
Enalaprila
Enalaprila [INN-Spanish]
Enalaprilat
Enalaprilum
 
Enalaprilum [INN-Latin]
Gadopril
HMS2090E08
IDI1_000408
KBio1_000408
KBio2_001787
KBio2_004355
KBio2_006923
KBio3_002535
KBioGR_000355
KBioSS_001787
Kinfil
LS-190651
MolPort-002-885-877
N-[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]-L-alanyl-L-proline
N-{(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}-L-alanyl-L-proline
NCGC00016932-01
NCGC00021569-04
NCGC00021569-05
NCGC00021569-06
NINDS_000408
Prestwick3_000314
SPBio_001349
Spectrum2_001455
Spectrum3_001478
Spectrum4_000008
Spectrum5_001107
Spectrum_001307
Vaseretic
Vasotec
Vasotec IV
enalapril

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type ICompletedNCT00004328Phase 2
2Cardiovascular Evaluation of Adult PHA 1 PatientsCompletedNCT00646828

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 Autosomal Recessive25
2 Pseudohypoaldosteronism Type 1, Recessive23 SCNN1A, SCNN1B, SCNN1G

Anatomical Context for Pseudohypoaldosteronism, Type I

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MalaCards organs/tissues related to Pseudohypoaldosteronism, Type I:

34
Testes, Kidney, Colon

Animal Models for Pseudohypoaldosteronism, Type I or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoaldosteronism, Type I:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5EPHA3, SCNN1A, SCNN1B, SCNN1G
2MP:00053677.8NR3C2, SCNN1A, SCNN1B, SCNN1G, SGK1
3MP:00053767.3EPHA3, NR3C2, SCNN1A, SCNN1B, SCNN1G, SGK1

Publications for Pseudohypoaldosteronism, Type I

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Articles related to Pseudohypoaldosteronism, Type I:

idTitleAuthorsYear
1
Pseudohypoaldosteronism type-I: a rare cause of hyperkalemia in neonates. (24864655)
2014
2
Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. (25548639)
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
A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). (14715854)
2004
5
Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: exclusion of claudin-8 as a candidate gene. (15345917)
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:

68
id Symbol AA change Variation ID SNP ID
1SCNN1Ap.Ser562LeuVAR_015834rs137852635
2SCNN1Ap.Gly327CysVAR_026518
3SCNN1Bp.Gly37SerVAR_007127rs137852706

Clinvar genetic disease variations for Pseudohypoaldosteronism, Type I:

5
id Gene Variation 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 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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2SCNN1A, SCNN1B, SCNN1G
29.2SCNN1A, SCNN1B, SCNN1G
39.2SCNN1A, SCNN1B, SCNN1G
4
Show member pathways
9.2SCNN1A, SCNN1B, SCNN1G
5
Show member pathways
9.2SCNN1A, SCNN1B, SCNN1G
6
Show member pathways
8.6SCNN1A, SCNN1B, SCNN1G, SGK1
7
Show member pathways
8.6SCNN1A, SCNN1B, SCNN1G, SGK1
88.6SCNN1A, SCNN1B, SCNN1G, SGK1
98.1NR3C2, SCNN1A, SCNN1B, SCNN1G, SGK1

GO Terms for genes affiliated with Pseudohypoaldosteronism, Type I

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Cellular components related to Pseudohypoaldosteronism, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:003470610.0SCNN1A, SCNN1B, SCNN1G
2apical plasma membraneGO:00163249.4SCNN1A, SCNN1B, SCNN1G
3integral component of plasma membraneGO:00058878.4EPHA3, SCNN1A, SCNN1B, SCNN1G
4plasma membraneGO:00058867.0CLDN8, EPHA3, SCNN1A, SCNN1B, SCNN1G, SGK1

Biological processes related to Pseudohypoaldosteronism, Type I according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1excretionGO:000758810.0SCNN1B, SCNN1G
2response to stimulusGO:00508969.8SCNN1A, SCNN1G
3multicellular organismal water homeostasisGO:00508919.7SCNN1A, SCNN1B, SCNN1G
4sensory perception of tasteGO:00509099.7SCNN1A, SCNN1B, SCNN1G
5sodium ion transmembrane transportGO:00357259.5SCNN1A, SCNN1B, SCNN1G
6sodium ion transportGO:00068149.2SCNN1B, SCNN1G, SGK1
7sodium ion homeostasisGO:00550789.2SCNN1A, SCNN1B, SCNN1G
8ion transmembrane transportGO:00342208.6SCNN1A, SCNN1B, SCNN1G, SGK1

Molecular functions related to Pseudohypoaldosteronism, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ligand-gated sodium channel activityGO:00152809.2SCNN1A, SCNN1B, SCNN1G
2WW domain bindingGO:00506999.2SCNN1A, SCNN1B, SCNN1G

Sources for Pseudohypoaldosteronism, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet