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

Aliases & Descriptions for Pseudohypoaldosteronism, Type I:

Name: Pseudohypoaldosteronism, Type I 54 13 69
Autosomal Recessive Pseudohypoaldosteronism Type 1 12 50 56 14
Pha1b 12 50 66
Pseudohypoaldosteronism, Type I, Autosomal Recessive 54 69
Pseudohypoaldosteronism Type I, Autosomal Recessive 66 29
Generalized Pseudohypoaldosteronism Type 1 50 56
Pseudohypoaldosteronism Type 1, Recessive 50 24
Pseudohypoaldosteronism Type 1 25 56
Pseudohypoaldosteronism 42 69
Pha1 24 25
Pseudohypoaldosteronism Type 1 Autosomal Recessive 50
Pseudohypoaldosteronism 1, Autosomal Recessive 66
Multisystem Pseudohypoaldosteronism 66
Pha Type I, Autosomal Recessive 66
Pseudohypoaldosteronism Type I 25
Autosomal Recessive Pha 1 12
Generalized Pha1 50
Pha Type 1 56

Characteristics:

Orphanet epidemiological data:

56
generalized 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:

32
pseudohypoaldosteronism, type i:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

OMIM 54 264350
Disease Ontology 12 DOID:0060854
ICD10 33 N25.8
MeSH 42 D011546
ICD10 via Orphanet 34 N25.8
UMLS via Orphanet 70 C1449843 C0268436
MESH via Orphanet 43 D011546
MedGen 40 C1449843
UMLS 69 C0268436

Summaries for Pseudohypoaldosteronism, Type I

OMIM : 54 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 vomiting, diarrhea and failure to thrive. An important gene associated with Pseudohypoaldosteronism, Type I is SCNN1B (Sodium Channel Epithelial 1 Beta Subunit), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and G-Beta Gamma Signaling. The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include testes, kidney and colon, and related phenotypes are behavior/neurological and homeostasis/metabolism

Disease Ontology : 12 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 : 50 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 : 66 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

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)
id Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism type i, autosomal dominant 12.3
2 lyz-related familial visceral amyloidosis 10.2 SCNN1B SCNN1G
3 lztfl1- related bardet-biedl syndrome 10.2 SCNN1B SCNN1G
4 pseudohypoaldosteronism 10.2
5 bickerstaff brainstem encephalitis 10.1 SCNN1A SCNN1B SCNN1G
6 pulmonary sarcoidosis 10.0 NR3C2 SCNN1A SCNN1B SCNN1G
7 dystonia 25 10.0 NR3C2 REN
8 prostate neuroendocrine neoplasm 10.0 NR3C2 REN
9 hypoaldosteronism, congenital, due to cmo i deficiency 10.0 NR3C2 REN
10 cataract 21, multiple types 10.0 NR3C2 REN
11 merkel cell carcinoma 10.0 NR3C2 REN
12 esophagus squamous cell papilloma 9.9 NR3C2 REN
13 immune system organ benign neoplasm 9.9 NR3C2 REN
14 microphthalmia, isolated, with coloboma 7 9.9 NR3C2 REN SCNN1G
15 malignant biphasic mesothelioma 9.9 REN SCNN1B SCNN1G
16 panuveitis 9.9 NR3C2 REN
17 hyperaldosteronism, familial, type iii 9.8 NR3C2 REN SCNN1B SCNN1G
18 retinitis pigmentosa 9.8 ATP6V1B1 NR3C2 REN
19 familial nasal acilia 9.8 NR3C2 REN
20 smith-mccort dysplasia 2 9.6 NR3C2 REN SCNN1A SCNN1B SCNN1G SGK1
21 bronchiectasis with or without elevated sweat chloride 3 9.6 NR3C2 REN SCNN1A SCNN1B SCNN1G SGK1
22 lymphoproliferative syndrome 2 8.4 ASIC2 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

Symptoms by clinical synopsis from OMIM:

264350

Clinical features from OMIM:

264350

Human phenotypes related to Pseudohypoaldosteronism, Type I:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 vomiting 32 HP:0002013
2 diarrhea 32 HP:0002014
3 failure to thrive 32 HP:0001508
4 hypotension 32 HP:0002615
5 recurrent respiratory infections 32 HP:0002205
6 feeding difficulties in infancy 32 HP:0008872
7 dehydration 32 HP:0001944
8 hyperaldosteronism 32 HP:0000859
9 hyponatremia 32 HP:0002902
10 metabolic acidosis 32 HP:0001942
11 renal salt wasting 32 HP:0000127
12 hyperkalemia 32 HP:0002153
13 pseudohypoaldosteronism 32 HP:0008242
14 hyperactive renin-angiotensin system 32 HP:0000841

UMLS symptoms related to Pseudohypoaldosteronism, Type I:


diarrhea, vomiting

MGI Mouse Phenotypes related to Pseudohypoaldosteronism, Type I:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.92 ASIC2 ATP6V1B1 EPHA3 LOX NR3C2 REN
2 homeostasis/metabolism MP:0005376 9.85 ATP6V1B1 CLDN8 EPHA3 LOX NR3C2 REN
3 cardiovascular system MP:0005385 9.8 ASIC2 CLDN8 EPHA3 LOX NR3C2 REN
4 renal/urinary system MP:0005367 9.56 ATP6V1B1 CLDN8 NR3C2 REN SCNN1A SCNN1B
5 respiratory system MP:0005388 9.02 SCNN1G EPHA3 LOX SCNN1A SCNN1B

Drugs & Therapeutics for Pseudohypoaldosteronism, Type I

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

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalapril Approved, Vet_approved Phase 2 75847-73-3 5362032 40466924
2
Enalaprilat Approved Phase 2 76420-72-9 6917719
3
protease inhibitors Phase 2
4 Chelating Agents Phase 2
5 HIV Protease Inhibitors Phase 2
6 Angiotensin-Converting Enzyme Inhibitors Phase 2
7 Antihypertensive Agents Phase 2
8 Hormone Antagonists
9 Hormones
10 Hormones, Hormone Substitutes, and Hormone Antagonists
11 Mineralocorticoids

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type I Completed NCT00004328 Phase 2
2 Cardiovascular Evaluation of Adult PHA 1 Patients Completed NCT00646828

Search NIH Clinical Center for Pseudohypoaldosteronism, Type I

Cochrane evidence based reviews: pseudohypoaldosteronism

Genetic Tests for Pseudohypoaldosteronism, Type I

Genetic tests related to Pseudohypoaldosteronism, Type I:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 1 Autosomal Recessive 29
2 Pseudohypoaldosteronism Type 1, Recessive 24 SCNN1A SCNN1B SCNN1G

Anatomical Context for Pseudohypoaldosteronism, Type I

MalaCards organs/tissues related to Pseudohypoaldosteronism, Type I:

39
Testes, Kidney, Colon

Publications for Pseudohypoaldosteronism, Type I

Articles related to Pseudohypoaldosteronism, Type I:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 SCNN1A p.Ser562Leu VAR_015834 rs137852635
2 SCNN1A p.Gly327Cys VAR_026518
3 SCNN1B p.Gly37Ser VAR_007127 rs137852706

ClinVar genetic disease variations for Pseudohypoaldosteronism, Type I:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SCNN1G SCNN1G, IVS11, G-A, -1 single nucleotide variant Pathogenic
2 SCNN1G SCNN1G, IVSAAS, G-A, -1 single nucleotide variant Pathogenic
3 SCNN1G SCNN1G, 1-BP DEL, 1627G deletion Pathogenic
4 SCNN1B NM_000336.2(SCNN1B): c.109G> A (p.Gly37Ser) single nucleotide variant Pathogenic rs137852706 GRCh37 Chromosome 16, 23360029: 23360029
5 SCNN1A SCNN1A, 2-BP DEL, FS144TER deletion Pathogenic
6 SCNN1A NM_001038.5(SCNN1A): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic rs137852634 GRCh37 Chromosome 12, 6458147: 6458147
7 SCNN1A SCNN1A, 1-BP DEL, 1449C deletion Pathogenic
8 SCNN1A SCNN1A, 1-BP DEL, 729A deletion Pathogenic
9 SCNN1A NM_001038.5(SCNN1A): c.1685C> T (p.Ser562Leu) single nucleotide variant Pathogenic rs137852635 GRCh37 Chromosome 12, 6457364: 6457364
10 NR3C2 NM_000901.4(NR3C2): c.1409C> A (p.Ser470Ter) single nucleotide variant Pathogenic rs879255348 GRCh37 Chromosome 4, 149356604: 149356604

Expression for Pseudohypoaldosteronism, Type I

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

Pathways for Pseudohypoaldosteronism, Type I

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 ASIC2 ATP6V1B1 SCNN1A SCNN1B SCNN1D SCNN1G
2
Show member pathways
12.52 SCNN1A SCNN1B SCNN1D SCNN1G
3
Show member pathways
12.32 SCNN1A SCNN1B SCNN1D SCNN1G
4
Show member pathways
12.2 ASIC2 ATP6V1B1 SCNN1A SCNN1B SCNN1D SCNN1G
5
Show member pathways
11.76 ASIC2 SCNN1A SCNN1B SCNN1G
6 11.17 SCNN1A SCNN1B SCNN1D SCNN1G
7 11.02 SCNN1A SCNN1B SCNN1G SGK1
8 10.59 NR3C2 SCNN1A SCNN1B SCNN1G SGK1
9 10.37 SCNN1A SCNN1B SCNN1D SCNN1G

GO Terms for Pseudohypoaldosteronism, Type I

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.91 ASIC2 CLDN8 EPHA3 REN SCNN1A SCNN1B
2 membrane GO:0016020 9.9 ASIC2 ATP6V1B1 CLDN8 EPHA3 NR3C2 REN
3 integral component of plasma membrane GO:0005887 9.72 ASIC2 EPHA3 SCNN1A SCNN1B SCNN1G
4 apical plasma membrane GO:0016324 9.26 ATP6V1B1 SCNN1A SCNN1B SCNN1G
5 sodium channel complex GO:0034706 8.8 SCNN1A SCNN1B SCNN1G

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.95 ASIC2 ATP6V1B1 SCNN1A SCNN1B SCNN1D SCNN1G
2 ion transport GO:0006811 9.88 ASIC2 ATP6V1B1 SCNN1A SCNN1B SCNN1D SCNN1G
3 response to stimulus GO:0050896 9.76 SCNN1A SCNN1B SCNN1D SCNN1G
4 excretion GO:0007588 9.61 ATP6V1B1 SCNN1B SCNN1G
5 sensory perception of taste GO:0050909 9.56 SCNN1A SCNN1B SCNN1D SCNN1G
6 sodium ion transmembrane transport GO:0035725 9.55 ASIC2 SCNN1A SCNN1B SCNN1D SCNN1G
7 sodium ion homeostasis GO:0055078 9.54 SCNN1A SCNN1B SCNN1G
8 multicellular organismal water homeostasis GO:0050891 9.5 SCNN1A SCNN1B SCNN1G
9 sodium ion transport GO:0006814 9.43 ASIC2 SCNN1A SCNN1B SCNN1D SCNN1G SGK1
10 ion transmembrane transport GO:0034220 9.17 ASIC2 ATP6V1B1 SCNN1A SCNN1B SCNN1D SCNN1G

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

id Name GO ID Score Top Affiliating Genes
1 sodium channel activity GO:0005272 9.16 ASIC2 SCNN1G
2 WW domain binding GO:0050699 9.13 SCNN1A SCNN1B SCNN1G
3 ligand-gated sodium channel activity GO:0015280 9.02 ASIC2 SCNN1A SCNN1B SCNN1D SCNN1G

Sources for Pseudohypoaldosteronism, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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