PHA1A
MCID: PSD112
MIFTS: 49

Pseudohypoaldosteronism, Type I, Autosomal Dominant (PHA1A)

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

Aliases & Classifications for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

Name: Pseudohypoaldosteronism, Type I, Autosomal Dominant 58 74
Autosomal Dominant Pseudohypoaldosteronism Type 1 12 54 60 15
Pseudohypoaldosteronism Type 1 Autosomal Dominant 54 30 6 41
Pha1a 58 12 54 76
Pseudohypoaldosteronism Type I, Autosomal Dominant 58 76 13
Renal Pseudohypoaldosteronism Type 1 54 60
Pseudohypoaldosteronism 1, Autosomal Dominant 76
Pseudohypoaldosteronism Type 1, Dominant 54
Pha Type I, Autosomal Dominant 76
Pha I, Autosomal Dominant 58
Autosomal Dominant Pha 1 12
Renal Pha1 54

Characteristics:

Orphanet epidemiological data:

60
renal pseudohypoaldosteronism type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype
improvement with age
favorable response to sodium chloride treatment
some patients may be clinically asymptomatic


HPO:

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


Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0060855
OMIM 58 177735
MeSH 45 D011546
ICD10 via Orphanet 35 N25.8
UMLS via Orphanet 75 C1449842
Orphanet 60 ORPHA171871
MedGen 43 C1449842

Summaries for Pseudohypoaldosteronism, Type I, Autosomal Dominant

OMIM : 58 Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I (summary by Geller et al., 1998). Autosomal recessive pseudohypoaldosteronism type I (PHA1B; 264350), caused by mutation in any one of 3 genes encoding the epithelial sodium channel (ENaC), is a similar but more severe systemic disorder with persistence into adulthood. (177735)

MalaCards based summary : Pseudohypoaldosteronism, Type I, Autosomal Dominant, also known as autosomal dominant pseudohypoaldosteronism type 1, is related to pseudohypoaldosteronism, type i, autosomal recessive and pseudohypoaldosteronism, and has symptoms including vomiting and diarrhea. An important gene associated with Pseudohypoaldosteronism, Type I, Autosomal Dominant is NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Cefepime and Maleic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and cortex, and related phenotypes are failure to thrive and hypotension

Disease Ontology : 12 A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has material basis in heterozygous mutation in the NR3C2 gene on chromosome 4q31.

NIH Rare Diseases : 54 Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. Patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. Autosomal dominant pseudohypoaldosteronism type 1 (PHA1A) exhibits autosomal dominant inheritance with variable expression. It is caused by by mutations in the mineralocorticoid receptor gene (NR3C2).  

UniProtKB/Swiss-Prot : 76 Pseudohypoaldosteronism 1, autosomal dominant: A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment.

Related Diseases for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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 Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type i, autosomal recessive 30.5 NR3C2 REN SCNN1A SCNN1B SCNN1G
2 pseudohypoaldosteronism 29.6 NR3C2 REN SCNN1A SCNN1B SCNN1G
3 acute cystitis 10.1
4 urinary tract obstruction 10.1
5 arthrogryposis, distal, type 3 9.9 NR3C2 REN
6 apparent mineralocorticoid excess 9.9 NR3C2 REN
7 anuria 9.9 NR3C2 REN
8 hyperaldosteronism, familial, type i 9.9 NR3C2 REN
9 bartter syndrome, type 2, antenatal 9.9 NR3C2 SCNN1B SCNN1G
10 adrenal cortex disease 9.9 NR3C2 REN
11 adrenal gland disease 9.9 NR3C2 REN
12 familial hypertension 9.9 NR3C2 REN
13 cortisone reductase deficiency 9.8 NR3C2 REN
14 idiopathic bronchiectasis 9.8 SCNN1A SCNN1B SCNN1G
15 bronchiectasis 9.8 SCNN1A SCNN1B SCNN1G
16 heart valve disease 9.8 NR3C2 REN
17 hypokalemia 9.8 NR3C2 REN
18 renal fibrosis 9.8 NR3C2 REN
19 pseudohyperkalemia, familial, 2, due to red cell leak 9.7 NR3C2 REN SCNN1G
20 congestive heart failure 9.7 NR3C2 REN
21 renal tubular acidosis 9.7 NR3C2 REN SCNN1G
22 renal tubular transport disease 9.6 REN SCNN1B SCNN1G
23 conn's syndrome 9.6 NR3C2 REN
24 cystic fibrosis 9.5 SCNN1A SCNN1B SCNN1G SGK1
25 liddle syndrome 1 9.2 NR3C2 REN SCNN1A SCNN1B SCNN1G

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



Diseases related to Pseudohypoaldosteronism, Type I, Autosomal Dominant

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 hypotension 33 HP:0002615
3 dehydration 33 HP:0001944
4 vomiting 33 HP:0002013
5 feeding difficulties 33 HP:0011968
6 hyperaldosteronism 33 HP:0000859
7 hyponatremia 33 HP:0002902
8 diarrhea 33 HP:0002014
9 metabolic acidosis 33 HP:0001942
10 increased circulating renin level 33 HP:0000848
11 hyperkalemia 33 HP:0002153
12 hyperactive renin-angiotensin system 33 HP:0000841
13 pseudohypoaldosteronism 33 HP:0008242

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
vomiting
diarrhea
poor feeding

Genitourinary Kidneys:
renal aldosterone resistance

Metabolic Features:
dehydration
metabolic acidosis

Laboratory Abnormalities:
hyponatremia
hyperkalemia
increased serum aldosterone
increased plasma renin activity

Clinical features from OMIM:

177735

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


vomiting, diarrhea

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 NR3C2 REN SCNN1A SCNN1B SCNN1G SGK1
2 homeostasis/metabolism MP:0005376 9.43 NR3C2 REN SCNN1A SCNN1B SCNN1G SGK1
3 renal/urinary system MP:0005367 9.1 NR3C2 REN SCNN1A SCNN1B SCNN1G SGK1

Drugs & Therapeutics for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cefepime Approved, Investigational Phase 1 88040-23-7 5479537
2
Maleic acid Experimental, Investigational Early Phase 1 110-17-8, 110-16-7 444972

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Plasma and Intrapulmonary Concentrations Study of WCK 5222 Completed NCT03630094 Phase 1 FEP-ZID
2 Tolerance, PK and PD Effects Study of TPN-672 in Chinese Healthy Volunteers Recruiting NCT03931668 Early Phase 1 TPN-672

Search NIH Clinical Center for Pseudohypoaldosteronism, Type I, Autosomal Dominant

Genetic Tests for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

# Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 1 Autosomal Dominant 30 NR3C2

Anatomical Context for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

42
Kidney, Heart, Cortex, Adrenal Cortex, Adrenal Gland

Publications for Pseudohypoaldosteronism, Type I, Autosomal Dominant

Articles related to Pseudohypoaldosteronism, Type I, Autosomal Dominant:

(show all 13)
# Title Authors Year
1
A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1. ( 27780983 )
2016
2
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. ( 24455331 )
2013
3
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. ( 19912655 )
2009
4
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. ( 16611713 )
2006
5
Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. ( 16757525 )
2006
6
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. ( 16954160 )
2006
7
A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). ( 14715854 )
2004
8
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. ( 15126534 )
2004
9
Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. ( 12679457 )
2003
10
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. ( 12788847 )
2003
11
Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. ( 11344206 )
2001
12
A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. ( 11134129 )
2000
13
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. ( 9662404 )
1998

Variations for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

76 (show all 13)
# Symbol AA change Variation ID SNP ID
1 NR3C2 p.Leu924Pro VAR_015627 rs121912563
2 NR3C2 p.Gly633Arg VAR_031268
3 NR3C2 p.Cys645Ser VAR_031269
4 NR3C2 p.Arg659Ser VAR_031270
5 NR3C2 p.Pro759Ser VAR_031271
6 NR3C2 p.Leu769Pro VAR_031272
7 NR3C2 p.Asn770Lys VAR_031273
8 NR3C2 p.Gln776Arg VAR_031274 rs121912565
9 NR3C2 p.Ser805Pro VAR_031275
10 NR3C2 p.Ser815Arg VAR_031276
11 NR3C2 p.Ser818Leu VAR_031277 rs121912573
12 NR3C2 p.Glu972Gly VAR_031278 rs121912574
13 NR3C2 p.Leu979Pro VAR_031279 rs121912567

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

6 (show top 50) (show all 689)
# Gene Variation Type Significance SNP ID Assembly Location
1 NR3C2 NR3C2, 1-BP DEL, 1226G deletion Pathogenic
2 NR3C2 NR3C2, 1-BP DEL, 1597T deletion Pathogenic
3 NR3C2 NM_000901.4(NR3C2): c.1609C> T (p.Arg537Ter) single nucleotide variant Pathogenic rs121912562 GRCh37 Chromosome 4, 149356404: 149356404
4 NR3C2 NM_000901.4(NR3C2): c.1609C> T (p.Arg537Ter) single nucleotide variant Pathogenic rs121912562 GRCh38 Chromosome 4, 148435252: 148435252
5 NR3C2 NM_000901.4(NR3C2): c.2365+3delA deletion Pathogenic GRCh38 Chromosome 4, 148154548: 148154548
6 NR3C2 NM_000901.4(NR3C2): c.2365+3delA deletion Pathogenic GRCh37 Chromosome 4, 149075699: 149075699
7 NR3C2 NM_000901.4(NR3C2): c.2871dup (p.Ala958Argfs) duplication Pathogenic GRCh38 Chromosome 4, 148081428: 148081428
8 NR3C2 NM_000901.4(NR3C2): c.2871dup (p.Ala958Argfs) duplication Pathogenic GRCh37 Chromosome 4, 149002579: 149002579
9 NR3C2 NM_000901.4(NR3C2): c.2771T> C (p.Leu924Pro) single nucleotide variant Pathogenic rs121912563 GRCh37 Chromosome 4, 149035283: 149035283
10 NR3C2 NM_000901.4(NR3C2): c.2771T> C (p.Leu924Pro) single nucleotide variant Pathogenic rs121912563 GRCh38 Chromosome 4, 148114132: 148114132
11 NR3C2 NM_000901.4(NR3C2): c.1131dup (p.Glu378Terfs) duplication Pathogenic GRCh38 Chromosome 4, 148435730: 148435730
12 NR3C2 NM_000901.4(NR3C2): c.1131dup (p.Glu378Terfs) duplication Pathogenic GRCh37 Chromosome 4, 149356882: 149356882
13 NR3C2 NR3C2, 8-BP DEL, NT537 deletion Pathogenic
14 NR3C2 NM_000901.4(NR3C2): c.1935C> A (p.Cys645Ter) single nucleotide variant Pathogenic rs121912564 GRCh37 Chromosome 4, 149115976: 149115976
15 NR3C2 NM_000901.4(NR3C2): c.1935C> A (p.Cys645Ter) single nucleotide variant Pathogenic rs121912564 GRCh38 Chromosome 4, 148194825: 148194825
16 NR3C2 NM_000901.4(NR3C2): c.2327A> G (p.Gln776Arg) single nucleotide variant Pathogenic rs121912565 GRCh37 Chromosome 4, 149075740: 149075740
17 NR3C2 NM_000901.4(NR3C2): c.2327A> G (p.Gln776Arg) single nucleotide variant Pathogenic rs121912565 GRCh38 Chromosome 4, 148154589: 148154589
18 NR3C2 NM_000901.4(NR3C2): c.1897G> A (p.Gly633Arg) single nucleotide variant Pathogenic rs121912566 GRCh37 Chromosome 4, 149181130: 149181130
19 NR3C2 NM_000901.4(NR3C2): c.1897G> A (p.Gly633Arg) single nucleotide variant Pathogenic rs121912566 GRCh38 Chromosome 4, 148259978: 148259978
20 NR3C2 NM_000901.4(NR3C2): c.2936T> C (p.Leu979Pro) single nucleotide variant Pathogenic rs121912567 GRCh37 Chromosome 4, 149002514: 149002514
21 NR3C2 NM_000901.4(NR3C2): c.2936T> C (p.Leu979Pro) single nucleotide variant Pathogenic rs121912567 GRCh38 Chromosome 4, 148081363: 148081363
22 NR3C2 NM_000901.4(NR3C2): c.488C> G (p.Ser163Ter) single nucleotide variant Pathogenic rs121912568 GRCh37 Chromosome 4, 149357525: 149357525
23 NR3C2 NM_000901.4(NR3C2): c.488C> G (p.Ser163Ter) single nucleotide variant Pathogenic rs121912568 GRCh38 Chromosome 4, 148436373: 148436373
24 NR3C2 NM_000901.4(NR3C2): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic rs121912569 GRCh37 Chromosome 4, 149002611: 149002611
25 NR3C2 NM_000901.4(NR3C2): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic rs121912569 GRCh38 Chromosome 4, 148081460: 148081460
26 NR3C2 NM_000901.4(NR3C2): c.1308T> A (p.Cys436Ter) single nucleotide variant Pathogenic rs121912570 GRCh37 Chromosome 4, 149356705: 149356705
27 NR3C2 NM_000901.4(NR3C2): c.1308T> A (p.Cys436Ter) single nucleotide variant Pathogenic rs121912570 GRCh38 Chromosome 4, 148435553: 148435553
28 NR3C2 NM_000901.4(NR3C2): c.2017C> T (p.Arg673Ter) single nucleotide variant Likely pathogenic rs121912571 GRCh37 Chromosome 4, 149076050: 149076050
29 NR3C2 NM_000901.4(NR3C2): c.2017C> T (p.Arg673Ter) single nucleotide variant Likely pathogenic rs121912571 GRCh38 Chromosome 4, 148154899: 148154899
30 NR3C2 NM_000901.4(NR3C2): c.2024C> G (p.Ser675Ter) single nucleotide variant Pathogenic rs121912572 GRCh37 Chromosome 4, 149076043: 149076043
31 NR3C2 NM_000901.4(NR3C2): c.2024C> G (p.Ser675Ter) single nucleotide variant Pathogenic rs121912572 GRCh38 Chromosome 4, 148154892: 148154892
32 NR3C2 NM_000901.4(NR3C2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912573 GRCh37 Chromosome 4, 149073677: 149073677
33 NR3C2 NM_000901.4(NR3C2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912573 GRCh38 Chromosome 4, 148152526: 148152526
34 NR3C2 NM_000901.4(NR3C2): c.2915A> G (p.Glu972Gly) single nucleotide variant Pathogenic rs121912574 GRCh37 Chromosome 4, 149002535: 149002535
35 NR3C2 NM_000901.4(NR3C2): c.2915A> G (p.Glu972Gly) single nucleotide variant Pathogenic rs121912574 GRCh38 Chromosome 4, 148081384: 148081384
36 CUL3 NM_003590.4(CUL3): c.1992A> G (p.Gln664=) single nucleotide variant Benign rs2070127 GRCh37 Chromosome 2, 225346646: 225346646
37 CUL3 NM_003590.4(CUL3): c.1992A> G (p.Gln664=) single nucleotide variant Benign rs2070127 GRCh38 Chromosome 2, 224481929: 224481929
38 CUL3 NM_003590.4(CUL3): c.1699G> A (p.Val567Ile) single nucleotide variant Benign rs3738952 GRCh37 Chromosome 2, 225362478: 225362478
39 CUL3 NM_003590.4(CUL3): c.1699G> A (p.Val567Ile) single nucleotide variant Benign rs3738952 GRCh38 Chromosome 2, 224497761: 224497761
40 CUL3 NM_003590.4(CUL3): c.1485+13G> A single nucleotide variant Benign rs3754629 GRCh37 Chromosome 2, 225367669: 225367669
41 CUL3 NM_003590.4(CUL3): c.1485+13G> A single nucleotide variant Benign rs3754629 GRCh38 Chromosome 2, 224502952: 224502952
42 NR3C2 NM_000901.4(NR3C2): c.2178G> A (p.Gln726=) single nucleotide variant Benign/Likely benign rs144234574 GRCh37 Chromosome 4, 149075889: 149075889
43 NR3C2 NM_000901.4(NR3C2): c.2178G> A (p.Gln726=) single nucleotide variant Benign/Likely benign rs144234574 GRCh38 Chromosome 4, 148154738: 148154738
44 NR3C2 NM_000901.4(NR3C2): c.1497T> C (p.Asp499=) single nucleotide variant Benign rs5525 GRCh37 Chromosome 4, 149356516: 149356516
45 NR3C2 NM_000901.4(NR3C2): c.1497T> C (p.Asp499=) single nucleotide variant Benign rs5525 GRCh38 Chromosome 4, 148435364: 148435364
46 NR3C2 NM_000901.4(NR3C2): c.538G> A (p.Val180Ile) single nucleotide variant Benign rs5522 GRCh37 Chromosome 4, 149357475: 149357475
47 NR3C2 NM_000901.4(NR3C2): c.538G> A (p.Val180Ile) single nucleotide variant Benign rs5522 GRCh38 Chromosome 4, 148436323: 148436323
48 NR3C2 NM_000901.4(NR3C2): c.-2C> G single nucleotide variant Benign rs2070951 GRCh38 Chromosome 4, 148436862: 148436862
49 NR3C2 NM_000901.4(NR3C2): c.-2C> G single nucleotide variant Benign rs2070951 GRCh37 Chromosome 4, 149358014: 149358014
50 KLHL3 NM_017415.2(KLHL3): c.1611G> T (p.Gly537=) single nucleotide variant Benign rs17171525 GRCh38 Chromosome 5, 137625877: 137625877

Expression for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

Pathways for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 SCNN1A SCNN1B SCNN1G SGK1
2
Show member pathways
12.17 SCNN1A SCNN1B SCNN1G
3
Show member pathways
12.12 SCNN1A SCNN1B SCNN1G SGK1
4
Show member pathways
11.63 SCNN1A SCNN1B SCNN1G
5 11.42 ERAS SGK1
6 10.98 SCNN1A SCNN1B SCNN1G
7 10.72 SCNN1A SCNN1B SCNN1G SGK1
8 10.59 NR3C2 SCNN1A SCNN1B SCNN1G SGK1
9 10.45 SCNN1A SCNN1B SCNN1G

GO Terms for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.73 ERAS REN SCNN1A SCNN1B SCNN1G SGK1
2 membrane GO:0016020 9.7 ERAS NR3C2 REN SCNN1A SCNN1B SCNN1G
3 apical plasma membrane GO:0016324 9.13 SCNN1A SCNN1B SCNN1G
4 sodium channel complex GO:0034706 8.8 SCNN1A SCNN1B SCNN1G

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.61 SCNN1A SCNN1B SCNN1G
2 sodium ion transmembrane transport GO:0035725 9.5 SCNN1A SCNN1B SCNN1G
3 sodium ion transport GO:0006814 9.46 SCNN1A SCNN1B SCNN1G SGK1
4 sensory perception of taste GO:0050909 9.43 SCNN1A SCNN1B SCNN1G
5 regulation of blood pressure GO:0008217 9.4 REN SGK1
6 excretion GO:0007588 9.37 SCNN1B SCNN1G
7 sodium ion homeostasis GO:0055078 9.13 SCNN1A SCNN1B SCNN1G
8 multicellular organismal water homeostasis GO:0050891 8.8 SCNN1A SCNN1B SCNN1G

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

# Name GO ID Score Top Affiliating Genes
1 sodium channel activity GO:0005272 9.16 SCNN1A SCNN1G
2 WW domain binding GO:0050699 9.13 SCNN1A SCNN1B SCNN1G
3 ligand-gated sodium channel activity GO:0015280 8.8 SCNN1A SCNN1B SCNN1G

Sources for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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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