MCID: PSD095
MIFTS: 47

Pseudohypoaldosteronism, Type I malady

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

Aliases & Classifications for Pseudohypoaldosteronism, Type I

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Pseudohypoaldosteronism, Type I:

Name: Pseudohypoaldosteronism, Type I 49 11 65
Autosomal Recessive Pseudohypoaldosteronism Type 1 45 51
Pseudohypoaldosteronism Type 1 Autosomal Recessive 45 24
Generalized Pseudohypoaldosteronism Type 1 45 51
Pseudohypoaldosteronism Type 1, Recessive 45 22
Pseudohypoaldosteronism Type 1 23 51
Pha1b 45 67
Pha1 22 23
 
Pseudohypoaldosteronism, Type I, Autosomal Recessive 65
Pseudohypoaldosteronism Type I, Autosomal Recessive 67
Pseudohypoaldosteronism 1, Autosomal Recessive 67
Multisystem Pseudohypoaldosteronism 67
Pha Type I, Autosomal Recessive 67
Pseudohypoaldosteronism Type I 23
Generalized Pha1 45
Pha Type 1 51


Classifications:

Orphanet: 51 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

51
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:

OMIM49 264350
Orphanet51 171876, 756
ICD10 via Orphanet28 N25.8
MESH via Orphanet37 D011546
UMLS via Orphanet66 C0268436, C1449843
MedGen34 C1449843
MeSH36 D011546

Summaries for Pseudohypoaldosteronism, Type I

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OMIM:49 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 SCNN1A (Sodium Channel, Non Voltage Gated 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 renal/urinary system and respiratory 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:45 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:67 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 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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Drugs for Pseudohypoaldosteronism, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EnalaprilapprovedPhase 210475847-73-35362032, 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
2
EnalaprilatPhase 210476420-72-96917719
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)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalprilat hydrate
3Mineralocorticoids294

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, 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
Testes, Kidney, Colon

Animal Models for Pseudohypoaldosteronism, Type I or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoaldosteronism, Type I:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.2NR3C2, SCNN1A, SCNN1B, SCNN1G, SGK1
2MP:00053888.1EPHA3, SCNN1A, SCNN1B, SCNN1G
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
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:

67
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:

5 (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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop 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:00347069.9SCNN1A, SCNN1B, SCNN1G
2external side of plasma membraneGO:00098979.7SCNN1A, SCNN1B, SCNN1G
3apical plasma membraneGO:00163249.5SCNN1A, SCNN1B, SCNN1G
4integral component of plasma membraneGO:00058878.7EPHA3, SCNN1A, SCNN1B, SCNN1G
5plasma membraneGO:00058867.3CLDN8, EPHA3, SCNN1A, SCNN1B, SCNN1G, SGK1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1sodium ion homeostasisGO:00550789.8SCNN1A, SCNN1B, SCNN1G
2cellular sodium ion homeostasisGO:00068839.8NR3C2, SGK1
3sodium ion transmembrane transportGO:00357259.7SCNN1A, SCNN1B, SCNN1G
4multicellular organismal water homeostasisGO:00508919.7SCNN1A, SCNN1B, SCNN1G
5sensory perception of tasteGO:00509099.6SCNN1A, SCNN1B, SCNN1G
6response to stimulusGO:00508969.3SCNN1A, SCNN1G
7excretionGO:00075889.3NR3C2, SCNN1B, SCNN1G
8ion transmembrane transportGO:00342208.8SCNN1A, SCNN1B, SCNN1G, SGK1
9sodium ion transportGO:00068148.8SCNN1A, SCNN1B, SCNN1G, SGK1
10transmembrane transportGO:00550858.6SCNN1A, 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:00152809.4SCNN1A, SCNN1B, SCNN1G
2sodium channel activityGO:00052729.2SCNN1A, SCNN1B, SCNN1G
3WW domain bindingGO:00506999.2SCNN1A, SCNN1B, SCNN1G

Sources for Pseudohypoaldosteronism, Type I

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet