PHA1B
MCID: PSD114
MIFTS: 49

Pseudohypoaldosteronism, Type I, Autosomal Recessive (PHA1B)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Pseudohypoaldosteronism, Type I, Autosomal Recessive

MalaCards integrated aliases for Pseudohypoaldosteronism, Type I, Autosomal Recessive:

Name: Pseudohypoaldosteronism, Type I, Autosomal Recessive 58 74
Autosomal Recessive Pseudohypoaldosteronism Type 1 12 54 60 15
Pseudohypoaldosteronism Type 1 Autosomal Recessive 54 30 6 41
Pha1b 58 12 54 76
Pseudohypoaldosteronism, Type I 58 13 74
Pseudohypoaldosteronism Type 1 26 60 30
Generalized Pseudohypoaldosteronism Type 1 54 60
Pseudohypoaldosteronism 45 74
Pseudohypoaldosteronism Type I, Autosomal Recessive 76
Pseudohypoaldosteronism 1, Autosomal Recessive 76
Pseudohypoaldosteronism Type 1, Recessive 54
Multisystem Pseudohypoaldosteronism 76
Pha Type I, Autosomal Recessive 76
Pseudohypoaldosteronism Type I 26
Pha I, Autosomal Recessive 58
Autosomal Recessive Pha 1 12
Generalized Pha1 54
Pha Type 1 60
Pha1 26

Characteristics:

Orphanet epidemiological data:

60
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;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
favorable response to sodium chloride treatment
may be lethal in the neonatal period


HPO:

33
pseudohypoaldosteronism, type i, autosomal recessive:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0060854
OMIM 58 264350
MeSH 45 D011546
NCIt 51 C123251
SNOMED-CT 69 43941006
MESH via Orphanet 46 D011546
ICD10 via Orphanet 35 N25.8
UMLS via Orphanet 75 C0268436 C1449843
MedGen 43 C1449843

Summaries for Pseudohypoaldosteronism, Type I, Autosomal Recessive

OMIM : 58 Autosomal recessive pseudohypoaldosteronism type I is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999). A milder, autosomal dominant form of type I pseudohypoaldosteronism (PHA1A; 177735) is caused by mutations in the mineralocorticoid receptor gene (MCR, NR3C2; 600983). Gitelman syndrome (263800), another example of primary renal tubular salt wasting, is due to mutation in the thiazide-sensitive sodium-chloride cotransporter (SLC12A3; 600968). Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases. (264350)

MalaCards based summary : Pseudohypoaldosteronism, Type I, Autosomal Recessive, also known as autosomal recessive pseudohypoaldosteronism type 1, is related to arthrogryposis, distal, type 3 and pseudohypoaldosteronism, type i, autosomal dominant, and has symptoms including vomiting and diarrhea. An important gene associated with Pseudohypoaldosteronism, Type I, Autosomal Recessive 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. Affiliated tissues include kidney, colon and testes, and related phenotypes are failure to thrive and hypotension

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 : 26 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 : 54 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).

UniProtKB/Swiss-Prot : 76 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, Autosomal Recessive

Diseases in the Pseudohypoaldosteronism family:

Pseudohypoaldosteronism, Type Iia Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Recessive Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Type Iic Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Type Iie Transient Pseudohypoaldosteronism

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 3 31.6 NR3C2 REN
2 pseudohypoaldosteronism, type i, autosomal dominant 30.9 NR3C2 REN SCNN1A SCNN1B SCNN1G
3 cystic fibrosis 30.1 SCNN1A SCNN1B SCNN1G
4 pseudohypoaldosteronism 29.9 NR3C2 REN SCNN1A SCNN1B SCNN1G
5 apparent mineralocorticoid excess 29.9 NR3C2 REN
6 familial hypertension 29.8 NR3C2 REN
7 renal tubular acidosis 29.5 ATP6V1B1 NR3C2 REN SCNN1G
8 metabolic acidosis 29.5 ATP6V1B1 SCNN1G
9 liddle syndrome 1 28.6 ASIC2 NR3C2 REN SCNN1A SCNN1B SCNN1G
10 pseudohypoaldosteronism, type iie 12.7
11 pseudohypoaldosteronism, type iid 12.6
12 pseudohypoaldosteronism, type iib 12.5
13 pseudohypoaldosteronism, type iic 12.5
14 pseudohypoaldosteronism, type iia 12.5
15 transient pseudohypoaldosteronism 12.2
16 acute cystitis 10.3
17 lipoid congenital adrenal hyperplasia 10.3
18 pyelonephritis 10.3
19 urinary tract obstruction 10.3
20 miliaria rubra 10.1
21 miliaria 10.1
22 cat eye syndrome 10.0
23 cholelithiasis 10.0
24 thrombocytosis 10.0
25 polyhydramnios 10.0
26 hypoaldosteronism 10.0
27 idiopathic bronchiectasis 10.0 SCNN1A SCNN1B SCNN1G
28 bronchiectasis 10.0 SCNN1A SCNN1B SCNN1G
29 bartter syndrome, type 2, antenatal 10.0 NR3C2 SCNN1B SCNN1G
30 anuria 10.0 NR3C2 REN
31 hyperaldosteronism, familial, type i 10.0 NR3C2 REN
32 adrenal cortex disease 10.0 NR3C2 REN
33 adrenal gland disease 10.0 NR3C2 REN
34 cortisone reductase deficiency 9.9 NR3C2 REN
35 pelger-huet anomaly 9.9
36 renal tubular acidosis, proximal 9.9
37 thrombophilia due to thrombin defect 9.9
38 down syndrome 9.9
39 ureterocele 9.9
40 vesicoureteral reflux 1 9.9
41 bone mineral density quantitative trait locus 3 9.9
42 corticosterone methyloxidase type ii deficiency 9.9
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
44 bartter disease 9.9
45 cardiac arrest 9.9
46 thrombosis 9.9
47 obstructive nephropathy 9.9
48 hydronephrosis 9.9
49 bronchopneumonia 9.9
50 pyloric stenosis 9.9

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



Diseases related to Pseudohypoaldosteronism, Type I, Autosomal Recessive

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type I, Autosomal Recessive

Human phenotypes related to Pseudohypoaldosteronism, Type I, Autosomal Recessive:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 hypotension 33 HP:0002615
3 recurrent respiratory infections 33 HP:0002205
4 feeding difficulties in infancy 33 HP:0008872
5 dehydration 33 HP:0001944
6 vomiting 33 HP:0002013
7 hyperaldosteronism 33 HP:0000859
8 hyponatremia 33 HP:0002902
9 diarrhea 33 HP:0002014
10 metabolic acidosis 33 HP:0001942
11 renal salt wasting 33 HP:0000127
12 hyperkalemia 33 HP:0002153
13 hyperactive renin-angiotensin system 33 HP:0000841
14 pseudohypoaldosteronism 33 HP:0008242

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Metabolic Features:
dehydration
metabolic acidosis

Laboratory Abnormalities:
hyponatremia
hyperkalemia
increased serum aldosterone
increased plasma renin activity
markedly elevated sodium in urine, sweat, saliva, and stool

Respiratory:
recurrent respiratory infections

Abdomen Gastrointestinal:
vomiting
diarrhea
poor feeding

Genitourinary Kidneys:
renal salt wasting

Clinical features from OMIM:

264350

UMLS symptoms related to Pseudohypoaldosteronism, Type I, Autosomal Recessive:


vomiting, diarrhea

MGI Mouse Phenotypes related to Pseudohypoaldosteronism, Type I, Autosomal Recessive:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ASIC2 ATP6V1B1 LOX NR3C2 REN SCNN1A
2 homeostasis/metabolism MP:0005376 9.5 ATP6V1B1 LOX NR3C2 REN SCNN1A SCNN1B
3 renal/urinary system MP:0005367 9.1 ATP6V1B1 NR3C2 REN SCNN1A SCNN1B SCNN1G

Drugs & Therapeutics for Pseudohypoaldosteronism, Type I, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Pseudohypoaldosteronism, Type I, Autosomal Recessive

Cochrane evidence based reviews: pseudohypoaldosteronism

Genetic Tests for Pseudohypoaldosteronism, Type I, Autosomal Recessive

Genetic tests related to Pseudohypoaldosteronism, Type I, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 1 Autosomal Recessive 30 SCNN1A SCNN1B SCNN1G
2 Pseudohypoaldosteronism Type 1 30

Anatomical Context for Pseudohypoaldosteronism, Type I, Autosomal Recessive

MalaCards organs/tissues related to Pseudohypoaldosteronism, Type I, Autosomal Recessive:

42
Kidney, Colon, Testes, Bone, Heart, Eye, Cortex

Publications for Pseudohypoaldosteronism, Type I, Autosomal Recessive

Articles related to Pseudohypoaldosteronism, Type I, Autosomal Recessive:

# Title Authors Year
1
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. ( 23416952 )
2013
2
Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1. ( 11231969 )
2001
3
Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1. ( 11014928 )
2000
4
Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its alpha subunit. ( 10510337 )
1999
5
Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. ( 10586178 )
1999
6
A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. ( 9118951 )
1997
7
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. ( 8589714 )
1996
8
A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. ( 8640238 )
1996
9
Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. ( 7593448 )
1995

Variations for Pseudohypoaldosteronism, Type I, Autosomal Recessive

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

76
# Symbol AA change Variation ID SNP ID
1 SCNN1A p.Ser562Leu VAR_015834 rs137852635
2 SCNN1A p.Gly327Cys VAR_026518 rs974854786
3 SCNN1B p.Gly37Ser VAR_007127 rs137852706

ClinVar genetic disease variations for Pseudohypoaldosteronism, Type I, Autosomal Recessive:

6 (show top 50) (show all 311)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCNN1G SCNN1G, IVS11, G-A, -1 single nucleotide variant Pathogenic
2 SCNN1G NM_001039.3(SCNN1G): c.318-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 16, 23200691: 23200691
3 SCNN1G NM_001039.3(SCNN1G): c.318-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 16, 23189370: 23189370
4 SCNN1G SCNN1G, 1-BP DEL, 1627G deletion Pathogenic
5 SCNN1G NM_001039.3(SCNN1G): c.547G> A (p.Gly183Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs5736 GRCh37 Chromosome 16, 23200921: 23200921
6 SCNN1G NM_001039.3(SCNN1G): c.547G> A (p.Gly183Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs5736 GRCh38 Chromosome 16, 23189600: 23189600
7 SCNN1G NM_001039.3(SCNN1G): c.589G> A (p.Glu197Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs5738 GRCh37 Chromosome 16, 23200963: 23200963
8 SCNN1G NM_001039.3(SCNN1G): c.589G> A (p.Glu197Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs5738 GRCh38 Chromosome 16, 23189642: 23189642
9 SCNN1B NM_000336.2(SCNN1B): c.109G> A (p.Gly37Ser) single nucleotide variant Pathogenic rs137852706 GRCh37 Chromosome 16, 23360029: 23360029
10 SCNN1B NM_000336.2(SCNN1B): c.109G> A (p.Gly37Ser) single nucleotide variant Pathogenic rs137852706 GRCh38 Chromosome 16, 23348708: 23348708
11 SCNN1A SCNN1A, 2-BP DEL, FS144TER deletion Pathogenic
12 SCNN1A NM_001038.5(SCNN1A): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic rs137852634 GRCh37 Chromosome 12, 6458147: 6458147
13 SCNN1A NM_001038.5(SCNN1A): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic rs137852634 GRCh38 Chromosome 12, 6348981: 6348981
14 SCNN1A SCNN1A, 1-BP DEL, 1449C deletion Pathogenic
15 SCNN1A SCNN1A, 1-BP DEL, 729A deletion Pathogenic
16 SCNN1A NM_001038.5(SCNN1A): c.1685C> T (p.Ser562Leu) single nucleotide variant Pathogenic rs137852635 GRCh37 Chromosome 12, 6457364: 6457364
17 SCNN1A NM_001038.5(SCNN1A): c.1685C> T (p.Ser562Leu) single nucleotide variant Pathogenic rs137852635 GRCh38 Chromosome 12, 6348198: 6348198
18 SCNN1A NM_001038.5(SCNN1A): c.1477T> C (p.Trp493Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs5742912 GRCh37 Chromosome 12, 6458350: 6458350
19 SCNN1A NM_001038.5(SCNN1A): c.1477T> C (p.Trp493Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs5742912 GRCh38 Chromosome 12, 6349184: 6349184
20 SCNN1A NM_001038.5(SCNN1A): c.1000G> A (p.Ala334Thr) single nucleotide variant Benign rs11542844 GRCh37 Chromosome 12, 6464581: 6464581
21 SCNN1A NM_001038.5(SCNN1A): c.1000G> A (p.Ala334Thr) single nucleotide variant Benign rs11542844 GRCh38 Chromosome 12, 6355415: 6355415
22 SCNN1A NM_001038.5(SCNN1A): c.1987A> G (p.Thr663Ala) single nucleotide variant Benign rs2228576 GRCh37 Chromosome 12, 6457062: 6457062
23 SCNN1A NM_001038.5(SCNN1A): c.1987A> G (p.Thr663Ala) single nucleotide variant Benign rs2228576 GRCh38 Chromosome 12, 6347896: 6347896
24 SCNN1G NM_001039.3(SCNN1G): c.474T> C (p.Ile158=) single nucleotide variant Benign rs5735 GRCh37 Chromosome 16, 23200848: 23200848
25 SCNN1G NM_001039.3(SCNN1G): c.474T> C (p.Ile158=) single nucleotide variant Benign rs5735 GRCh38 Chromosome 16, 23189527: 23189527
26 SCNN1G NM_001039.3(SCNN1G): c.636C> T (p.Ser212=) single nucleotide variant Benign/Likely benign rs5739 GRCh38 Chromosome 16, 23192369: 23192369
27 SCNN1G NM_001039.3(SCNN1G): c.636C> T (p.Ser212=) single nucleotide variant Benign/Likely benign rs5739 GRCh37 Chromosome 16, 23203690: 23203690
28 SCNN1G NM_001039.3(SCNN1G): c.1176+14A> G single nucleotide variant Benign rs5740 GRCh37 Chromosome 16, 23221183: 23221183
29 SCNN1G NM_001039.3(SCNN1G): c.1176+14A> G single nucleotide variant Benign rs5740 GRCh38 Chromosome 16, 23209862: 23209862
30 SCNN1G NM_001039.3(SCNN1G): c.1947C> G (p.Leu649=) single nucleotide variant Benign rs5723 GRCh37 Chromosome 16, 23226787: 23226787
31 SCNN1G NM_001039.3(SCNN1G): c.1947C> G (p.Leu649=) single nucleotide variant Benign rs5723 GRCh38 Chromosome 16, 23215466: 23215466
32 SCNN1B NM_000336.2(SCNN1B): c.279T> C (p.Pro93=) single nucleotide variant Benign rs238547 GRCh37 Chromosome 16, 23360199: 23360199
33 SCNN1B NM_000336.2(SCNN1B): c.279T> C (p.Pro93=) single nucleotide variant Benign rs238547 GRCh38 Chromosome 16, 23348878: 23348878
34 SCNN1B NM_000336.2(SCNN1B): c.1221A> G (p.Pro407=) single nucleotide variant Likely benign rs2303156 GRCh38 Chromosome 16, 23375806: 23375806
35 SCNN1B NM_000336.2(SCNN1B): c.1221A> G (p.Pro407=) single nucleotide variant Likely benign rs2303156 GRCh37 Chromosome 16, 23387127: 23387127
36 SCNN1B NM_000336.2(SCNN1B): c.1325G> T (p.Gly442Val) single nucleotide variant Benign rs1799980 GRCh38 Chromosome 16, 23377219: 23377219
37 SCNN1B NM_000336.2(SCNN1B): c.1325G> T (p.Gly442Val) single nucleotide variant Benign rs1799980 GRCh37 Chromosome 16, 23388540: 23388540
38 SCNN1B NM_000336.2(SCNN1B): c.1467-14G> A single nucleotide variant Benign rs34618783 GRCh37 Chromosome 16, 23391401: 23391401
39 SCNN1B NM_000336.2(SCNN1B): c.1467-14G> A single nucleotide variant Benign rs34618783 GRCh38 Chromosome 16, 23380080: 23380080
40 SCNN1G NM_001039.3(SCNN1G): c.387T> C (p.Tyr129=) single nucleotide variant Benign rs5734 GRCh37 Chromosome 16, 23200761: 23200761
41 SCNN1G NM_001039.3(SCNN1G): c.387T> C (p.Tyr129=) single nucleotide variant Benign rs5734 GRCh38 Chromosome 16, 23189440: 23189440
42 SCNN1G NM_001039.3(SCNN1G): c.549C> T (p.Gly183=) single nucleotide variant Benign rs5737 GRCh37 Chromosome 16, 23200923: 23200923
43 SCNN1G NM_001039.3(SCNN1G): c.549C> T (p.Gly183=) single nucleotide variant Benign rs5737 GRCh38 Chromosome 16, 23189602: 23189602
44 SCNN1G NM_001039.3(SCNN1G): c.1432-7G> A single nucleotide variant Benign rs13306653 GRCh37 Chromosome 16, 23224416: 23224416
45 SCNN1G NM_001039.3(SCNN1G): c.1432-7G> A single nucleotide variant Benign rs13306653 GRCh38 Chromosome 16, 23213095: 23213095
46 SCNN1B NM_000336.2(SCNN1B): c.879C> T (p.Phe293=) single nucleotide variant Benign rs250563 GRCh38 Chromosome 16, 23367958: 23367958
47 SCNN1B NM_000336.2(SCNN1B): c.879C> T (p.Phe293=) single nucleotide variant Benign rs250563 GRCh37 Chromosome 16, 23379279: 23379279
48 SCNN1B NM_000336.2(SCNN1B): c.1401C> T (p.Ser467=) single nucleotide variant Benign/Likely benign rs74012901 GRCh37 Chromosome 16, 23388704: 23388704
49 SCNN1B NM_000336.2(SCNN1B): c.1401C> T (p.Ser467=) single nucleotide variant Benign/Likely benign rs74012901 GRCh38 Chromosome 16, 23377383: 23377383
50 SCNN1B NM_000336.2(SCNN1B): c.1765G> A (p.Gly589Ser) single nucleotide variant Likely benign rs61759926 GRCh37 Chromosome 16, 23391964: 23391964

Expression for Pseudohypoaldosteronism, Type I, Autosomal Recessive

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

Pathways for Pseudohypoaldosteronism, Type I, Autosomal Recessive

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 ASIC2 ATP6V1B1 SCNN1A SCNN1B SCNN1D SCNN1G
2
Show member pathways
12.63 SCNN1A SCNN1B SCNN1D SCNN1G
3
Show member pathways
12.32 SCNN1A SCNN1B SCNN1D SCNN1G
4
Show member pathways
11.93 ASIC2 ATP6V1B1 SCNN1A SCNN1B SCNN1D SCNN1G
5
Show member pathways
11.71 ASIC2 SCNN1A SCNN1B SCNN1G
6 11.13 NR3C2 SCNN1A SCNN1B SCNN1G
7 11.01 SCNN1A SCNN1B SCNN1G
8 11 SCNN1A SCNN1B SCNN1D SCNN1G
9 10.04 SCNN1A SCNN1B SCNN1D SCNN1G

GO Terms for Pseudohypoaldosteronism, Type I, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.26 ATP6V1B1 SCNN1A SCNN1B SCNN1G
2 sodium channel complex GO:0034706 8.8 SCNN1A SCNN1B SCNN1G

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 ASIC2 ATP6V1B1 SCNN1A SCNN1B SCNN1D SCNN1G
2 response to stimulus GO:0050896 9.73 SCNN1A SCNN1B SCNN1D SCNN1G
3 excretion GO:0007588 9.58 ATP6V1B1 SCNN1B SCNN1G
4 sodium ion homeostasis GO:0055078 9.5 SCNN1A SCNN1B SCNN1G
5 sensory perception of taste GO:0050909 9.46 SCNN1A SCNN1B SCNN1D SCNN1G
6 multicellular organismal water homeostasis GO:0050891 9.43 SCNN1A SCNN1B SCNN1G
7 sodium ion transport GO:0006814 9.35 ASIC2 SCNN1A SCNN1B SCNN1D SCNN1G
8 sodium ion transmembrane transport GO:0035725 9.02 ASIC2 SCNN1A SCNN1B SCNN1D SCNN1G

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

# Name GO ID Score Top Affiliating Genes
1 sodium channel activity GO:0005272 9.33 ASIC2 SCNN1A 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, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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