PHA1B
MCID: PSD095
MIFTS: 53

Pseudohypoaldosteronism, Type I (PHA1B) malady

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

Aliases & Classifications for Pseudohypoaldosteronism, Type I

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pseudohypoaldosteronism, Type I:

Name: Pseudohypoaldosteronism, Type I 52 12 68
Autosomal Recessive Pseudohypoaldosteronism Type 1 11 48 54 13
Pha1b 11 48 70
Pseudohypoaldosteronism, Type I, Autosomal Recessive 52 68
Pseudohypoaldosteronism Type I, Autosomal Recessive 70 27
Generalized Pseudohypoaldosteronism Type 1 48 54
Pseudohypoaldosteronism Type 1, Recessive 48 24
Pseudohypoaldosteronism Type 1 25 54
Pseudohypoaldosteronism 39 68
 
Pha1 24 25
Pseudohypoaldosteronism Type 1 Autosomal Recessive 48
Pseudohypoaldosteronism 1, Autosomal Recessive 70
Multisystem Pseudohypoaldosteronism 70
Pha Type I, Autosomal Recessive 70
Pseudohypoaldosteronism Type I 25
Autosomal Recessive Pha 1 11
Generalized Pha1 48
Pha Type 1 54

Characteristics:

Orphanet epidemiological data:

54
pseudohypoaldosteronism type 1:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
autosomal recessive pseudohypoaldosteronism type 1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
pseudohypoaldosteronism, type i:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:

Orphanet: 54 
Rare renal diseases


External Ids:

OMIM52 264350
Disease Ontology11 DOID:0060854
ICD1030 N25.8
MeSH39 D011546
ICD10 via Orphanet31 N25.8
UMLS via Orphanet69 C1449843, C0268436
MESH via Orphanet40 D011546
MedGen37 C1449843

Summaries for Pseudohypoaldosteronism, Type I

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OMIM:52 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 type i, autosomal dominant and lyz-related familial visceral amyloidosis, and has symptoms including diarrhea, diarrhea and vomiting. An important gene associated with Pseudohypoaldosteronism, Type I is SCNN1B (Sodium Channel Epithelial 1 Beta Subunit), and among its related pathways are Diuretics Pathway, Pharmacodynamics and Taste transduction. Affiliated tissues include testes, kidney and colon, and related mouse phenotypes are respiratory system and cardiovascular system.

Disease Ontology:11 A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has material basis in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC)

Genetics Home Reference:25 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:48 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:70 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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Diseases in the Pseudohypoaldosteronism family:

Pseudohypoaldosteronism, Type Iia Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism Type I, Autosomal Dominant Pseudohypoaldosteronism, Type Iid
pseudohypoaldosteronism, type i Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Type Iib Transient Pseudohypoaldosteronism

Diseases related to Pseudohypoaldosteronism, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism type i, autosomal dominant12.3
2lyz-related familial visceral amyloidosis10.2SCNN1B, SCNN1G
3lztfl1- related bardet-biedl syndrome10.2SCNN1B, SCNN1G
4pseudohypoaldosteronism10.2
5bickerstaff brainstem encephalitis10.1SCNN1A, SCNN1B, SCNN1G
6pulmonary sarcoidosis10.0NR3C2, SCNN1A, SCNN1B, SCNN1G
7dystonia 2510.0NR3C2, REN
8prostate neuroendocrine neoplasm10.0NR3C2, REN
9hypoaldosteronism, congenital, due to cmo i deficiency10.0NR3C2, REN
10cataract 21, multiple types10.0NR3C2, REN
11merkel cell carcinoma10.0NR3C2, REN
12esophagus squamous cell papilloma9.9NR3C2, REN
13immune system organ benign neoplasm9.9NR3C2, REN
14microphthalmia, isolated, with coloboma 79.9NR3C2, REN, SCNN1G
15malignant biphasic mesothelioma9.9REN, SCNN1B, SCNN1G
16panuveitis9.9NR3C2, REN
17hyperaldosteronism, familial, type iii9.8NR3C2, REN, SCNN1B, SCNN1G
18retinitis pigmentosa9.8ATP6V1B1, NR3C2, REN
19familial nasal acilia9.8NR3C2, REN
20smith-mccort dysplasia 29.6NR3C2, REN, SCNN1A, SCNN1B, SCNN1G, SGK1
21bronchiectasis with or without elevated sweat chloride 39.6NR3C2, REN, SCNN1A, SCNN1B, SCNN1G, SGK1
22lymphoproliferative syndrome 28.4ASIC2, ATP6V1B1, CLDN8, EPHA3, LOX, NR3C2

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism, Type I:



Diseases related to pseudohypoaldosteronism, type i

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type I

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Symptoms by clinical synopsis from OMIM:

264350

Clinical features from OMIM:

264350

Human phenotypes related to Pseudohypoaldosteronism, Type I:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 renal salt wasting64 HP:0000127
2 hyperactive renin-angiotensin system64 HP:0000841
3 hyperaldosteronism64 HP:0000859
4 failure to thrive64 HP:0001508
5 metabolic acidosis64 HP:0001942
6 dehydration64 HP:0001944
7 vomiting64 HP:0002013
8 diarrhea64 HP:0002014
9 hyperkalemia64 HP:0002153
10 recurrent respiratory infections64 HP:0002205
11 hypotension64 HP:0002615
12 hyponatremia64 HP:0002902
13 pseudohypoaldosteronism64 HP:0008242
14 feeding difficulties in infancy64 HP:0008872

UMLS symptoms related to Pseudohypoaldosteronism, Type I:


diarrhea, vomiting

MGI Mouse Phenotypes related to Pseudohypoaldosteronism, Type I according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6EPHA3, LOX, SCNN1A, SCNN1B, SCNN1G
2MP:00053858.0ASIC2, CLDN8, EPHA3, LOX, NR3C2, REN
3MP:00053677.9ATP6V1B1, CLDN8, NR3C2, REN, SCNN1A, SCNN1B
4MP:00053867.6ASIC2, ATP6V1B1, EPHA3, LOX, NR3C2, REN
5MP:00053767.0ATP6V1B1, CLDN8, EPHA3, LOX, NR3C2, REN

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
EnalaprilatapprovedPhase 212476420-72-96917719
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
2
Enalaprilapproved, vet_approvedPhase 212475847-73-35362032, 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
3
protease inhibitorsPhase 25471
Synonyms:
 
protease inhibitors
4Angiotensin-Converting Enzyme InhibitorsPhase 2724
5HIV Protease InhibitorsPhase 25470
6Chelating AgentsPhase 21423
7Antihypertensive AgentsPhase 24207
8Mineralocorticoids367
9Hormones, Hormone Substitutes, and Hormone Antagonists13168
10Hormone Antagonists13180
11Hormones14415

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


Cochrane evidence based reviews: pseudohypoaldosteronism

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 Recessive27
2 Pseudohypoaldosteronism Type 1, Recessive24 SCNN1A, SCNN1B, SCNN1G

Anatomical Context for Pseudohypoaldosteronism, Type I

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MalaCards organs/tissues related to Pseudohypoaldosteronism, Type I:

36
Testes, Kidney, Colon

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:

70
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, -1SNVPathogenic
2SCNN1GSCNN1G, IVSAAS, G-A, -1SNVPathogenic
3SCNN1GSCNN1G, 1-BP DEL, 1627GdeletionPathogenic
4SCNN1BNM_ 000336.2(SCNN1B): c.109G> A (p.Gly37Ser)SNVPathogenicrs137852706GRCh37Chr 16, 23360029: 23360029
5SCNN1ASCNN1A, 2-BP DEL, FS144TERdeletionPathogenic
6SCNN1ANM_ 001038.5(SCNN1A): c.1522C> T (p.Arg508Ter)SNVPathogenicrs137852634GRCh37Chr 12, 6458147: 6458147
7SCNN1ASCNN1A, 1-BP DEL, 1449CdeletionPathogenic
8SCNN1ASCNN1A, 1-BP DEL, 729AdeletionPathogenic
9SCNN1ANM_ 001038.5(SCNN1A): c.1685C> T (p.Ser562Leu)SNVPathogenicrs137852635GRCh37Chr 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
19.3SCNN1A, SCNN1B, SCNN1G, SGK1
2
Show member pathways
9.2ASIC2, SCNN1A, SCNN1B, SCNN1G
3
Show member pathways
9.1SCNN1A, SCNN1B, SCNN1D, SCNN1G
4
Show member pathways
9.1SCNN1A, SCNN1B, SCNN1D, SCNN1G
59.1SCNN1A, SCNN1B, SCNN1D, SCNN1G
69.1SCNN1A, SCNN1B, SCNN1D, SCNN1G
79.0NR3C2, SCNN1A, SCNN1B, SCNN1G, SGK1
8
Show member pathways
7.8ASIC2, ATP6V1B1, SCNN1A, SCNN1B, SCNN1D, SCNN1G
9
Show member pathways
7.8ASIC2, ATP6V1B1, SCNN1A, SCNN1B, SCNN1D, SCNN1G

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
1apical plasma membraneGO:00163249.9ATP6V1B1, SCNN1A, SCNN1B, SCNN1G
2integral component of plasma membraneGO:00058879.6ASIC2, EPHA3, SCNN1A, SCNN1B, SCNN1G
3sodium channel complexGO:00347069.6SCNN1A, SCNN1B, SCNN1G
4plasma membraneGO:00058866.9ASIC2, CLDN8, EPHA3, REN, SCNN1A, SCNN1B
5membraneGO:00160206.6ASIC2, ATP6V1B1, CLDN8, EPHA3, NR3C2, REN

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal water homeostasisGO:005089110.4SCNN1A, SCNN1B, SCNN1G
2sodium ion homeostasisGO:005507810.4SCNN1A, SCNN1B, SCNN1G
3excretionGO:000758810.2ATP6V1B1, SCNN1B, SCNN1G
4response to stimulusGO:00508969.8SCNN1A, SCNN1B, SCNN1D, SCNN1G
5sensory perception of tasteGO:00509099.8SCNN1A, SCNN1B, SCNN1D, SCNN1G
6sodium ion transmembrane transportGO:00357259.4ASIC2, SCNN1A, SCNN1B, SCNN1D, SCNN1G
7sodium ion transportGO:00068149.0ASIC2, SCNN1A, SCNN1B, SCNN1D, SCNN1G, SGK1
8ion transportGO:00068118.9ASIC2, ATP6V1B1, SCNN1A, SCNN1B, SCNN1D, SCNN1G
9ion transmembrane transportGO:00342208.5ASIC2, ATP6V1B1, SCNN1A, SCNN1B, SCNN1D, SCNN1G
10transportGO:00068108.1ASIC2, ATP6V1B1, SCNN1A, SCNN1B, SCNN1D, SCNN1G

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

idNameGO IDScoreTop Affiliating Genes
1sodium channel activityGO:000527210.1ASIC2, SCNN1G
2WW domain bindingGO:00506999.6SCNN1A, SCNN1B, SCNN1G
3ligand-gated sodium channel activityGO:00152809.1ASIC2, SCNN1A, SCNN1B, SCNN1D, SCNN1G

Sources for Pseudohypoaldosteronism, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet