MCID: PSD095
MIFTS: 48

Pseudohypoaldosteronism, Type I malady

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

Aliases & Classifications for Pseudohypoaldosteronism, Type I

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Sources:
49OMIM, 11diseasecard, 65UMLS, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 22GeneTests, 23Genetics Home Reference, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pseudohypoaldosteronism, Type I:

Name: Pseudohypoaldosteronism, Type I 49 11 65
Pseudohypoaldosteronism Type I, Autosomal Recessive 67 24
Autosomal Recessive Pseudohypoaldosteronism Type 1 45 51
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 1 Autosomal Recessive 45
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

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

HPO:

61
pseudohypoaldosteronism, type i:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:

Orphanet: 51 
Rare renal diseases


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
UMLS65 C1449843, C0268436

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 pseudohypoaldosteronism type i, autosomal recessive, is related to pseudohypoaldosteronism type i, autosomal dominant and prostate cancer, and has symptoms including feeding difficulties in infancy, pseudohypoaldosteronism and hyponatremia. 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 colon, kidney and testes, and related mouse phenotypes are respiratory system and renal/urinary system.

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.

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.

Related Diseases for Pseudohypoaldosteronism, Type I

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Graphical network of the top 20 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 feeding difficulties in infancy HP:0008872
2 pseudohypoaldosteronism HP:0008242
3 hyponatremia HP:0002902
4 hypotension HP:0002615
5 recurrent respiratory infections HP:0002205
6 hyperkalemia HP:0002153
7 diarrhea HP:0002014
8 vomiting HP:0002013
9 dehydration HP:0001944
10 metabolic acidosis HP:0001942
11 failure to thrive HP:0001508
12 hyperaldosteronism HP:0000859
13 hyperactive renin-angiotensin system HP:0000841
14 renal salt wasting HP:0000127

Drugs & Therapeutics for Pseudohypoaldosteronism, Type I

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EnalaprilapprovedPhase 211275847-73-35362032, 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
2Angiotensin-Converting Enzyme InhibitorsPhase 2634
3Protease InhibitorsPhase 24558
4
EnalaprilatPhase 211276420-72-96917719
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
5HIV Protease InhibitorsPhase 24558
6Chelating AgentsPhase 2667
7Antihypertensive AgentsPhase 23618
8Mineralocorticoids301
9Hormones, Hormone Substitutes, and Hormone Antagonists9988
10Hormone Antagonists10002
11Hormones11748

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

Anatomical Context for Pseudohypoaldosteronism, Type I

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MalaCards organs/tissues related to Pseudohypoaldosteronism, Type I:

33
Colon, Kidney, Testes, Skin

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:00053888.4EPHA3, 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
Vaccinia viruses isolated from skin infection in horses produced cutaneous and systemic disease in experimentally infected rabbits. (22244689)
2012
2
MICA*002:04: a new allele identified by sequence-based typing in a Chinese individual. (21388367)
2011
3
Mice with null mutation of Ceacam I develop nonalcoholic steatohepatitis. (21949477)
2010
4
Amyloid beta: a putative intra-spinal microtubule-depolymerizer to induce synapse-loss or dentritic spine shortening in Alzheimer's disease. (20198823)
2009
5
A 16-year-old male with a cerebellar mass. (19076785)
2009
6
Bronchoalveolar lavage with diluted porcine surfactant in mechanically ventilated term infants with meconium aspiration syndrome. (17163230)
2006
7
Nutritional and inflammatory status influence darbepoetin dose in pre-dialysis elderly patients. (17160447)
2006
8
The role of collagen and elastin in aged skin: an image processing approach. (15036271)
2004
9
Dissection of the domain architecture of the alpha2macroglobulin-receptor-associated protein. (9119022)
1997
10
Localization of the human GM-CSF receptor beta chain gene (CSF2RB) to chromosome 22q12.2--&gt;q13.1. (1424804)
1992

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
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:00347069.9SCNN1A, SCNN1B, SCNN1G
2external side of plasma membraneGO:00098979.7SCNN1B, SCNN1G
3plasma membraneGO:00058868.7CLDN8, SCNN1A, SCNN1B, SCNN1G

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

idNameGO IDScoreTop Affiliating Genes
1response to stimulusGO:00508969.9SCNN1A, SCNN1G
2excretionGO:00075889.9SCNN1B, SCNN1G
3sodium ion homeostasisGO:00550789.8SCNN1A, SCNN1B, SCNN1G
4transmembrane transportGO:00550859.2SCNN1A, 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