MCID: PSD112
MIFTS: 44

Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

Aliases & Classifications for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

Name: Pseudohypoaldosteronism, Type I, Autosomal Dominant 57 73
Autosomal Dominant Pseudohypoaldosteronism Type 1 12 53 59 15
Pseudohypoaldosteronism Type 1 Autosomal Dominant 53 29 6 40
Pha1a 57 12 53 75
Pseudohypoaldosteronism Type I, Autosomal Dominant 57 75 13
Renal Pseudohypoaldosteronism Type 1 53 59
Pseudohypoaldosteronism 1, Autosomal Dominant 75
Pseudohypoaldosteronism, Type I, Dominant 6
Pseudohypoaldosteronism Type 1, Dominant 53
Pha Type I, Autosomal Dominant 75
Pha I, Autosomal Dominant 57
Autosomal Dominant Pha 1 12
Renal Pha1 53

Characteristics:

Orphanet epidemiological data:

59
renal pseudohypoaldosteronism type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
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:

32
pseudohypoaldosteronism, type i, autosomal dominant:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 177735
Disease Ontology 12 DOID:0060855
ICD10 33 N25.8
MeSH 44 D011546
Orphanet 59 ORPHA171871
UMLS via Orphanet 74 C1449842
ICD10 via Orphanet 34 N25.8
MedGen 42 C1449842

Summaries for Pseudohypoaldosteronism, Type I, Autosomal Dominant

OMIM : 57 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 diarrhea and vomiting. 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. Affiliated tissues include kidney, and related phenotypes are hyperactive renin-angiotensin system and increased circulating renin level

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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).  

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.

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 20)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type i, autosomal recessive 28.8 NR3C2 REN SCNN1A SCNN1B SCNN1G
2 pseudohypoaldosteronism 28.1 NR3C2 REN SCNN1A SCNN1B SCNN1G
3 arthrogryposis, distal, type 3 9.8 NR3C2 REN
4 anuria 9.8 NR3C2 REN
5 bartter syndrome, type 2, antenatal 9.8 NR3C2 SCNN1B SCNN1G
6 hyperaldosteronism, familial, type i 9.8 NR3C2 REN
7 adrenal cortex disease 9.7 NR3C2 REN
8 adrenal gland disease 9.7 NR3C2 REN
9 idiopathic bronchiectasis 9.7 SCNN1A SCNN1B SCNN1G
10 apparent mineralocorticoid excess 9.7 NR3C2 REN
11 bronchiectasis 9.6 SCNN1A SCNN1B SCNN1G
12 endocrine organ benign neoplasm 9.6 NR3C2 REN
13 renal fibrosis 9.5 NR3C2 REN
14 congestive heart failure 9.4 NR3C2 REN
15 pseudohyperkalemia, familial, 2, due to red cell leak 9.4 NR3C2 REN SCNN1G
16 renal tubular acidosis 9.4 NR3C2 REN SCNN1G
17 renal tubular transport disease 9.2 REN SCNN1B SCNN1G
18 conn's syndrome 9.2 NR3C2 REN
19 cystic fibrosis 8.9 SCNN1A SCNN1B SCNN1G SGK1
20 liddle syndrome 7.5 NR3C2 REN SCNN1A SCNN1B SCNN1G SGK1

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hyperactive renin-angiotensin system 32 HP:0000841
2 increased circulating renin level 32 HP:0000848
3 hyperaldosteronism 32 HP:0000859
4 failure to thrive 32 HP:0001508
5 metabolic acidosis 32 HP:0001942
6 dehydration 32 HP:0001944
7 vomiting 32 HP:0002013
8 diarrhea 32 HP:0002014
9 hyperkalemia 32 HP:0002153
10 hypotension 32 HP:0002615
11 hyponatremia 32 HP:0002902
12 pseudohypoaldosteronism 32 HP:0008242
13 feeding difficulties 32 HP:0011968

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


diarrhea, vomiting

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 SCNN1G SGK1 NR3C2 REN SCNN1A SCNN1B
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

Search Clinical Trials , 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 29 NR3C2

Anatomical Context for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

41
Kidney

Publications for Pseudohypoaldosteronism, Type I, Autosomal Dominant

Articles related to Pseudohypoaldosteronism, Type I, Autosomal Dominant:

# 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
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. ( 16954160 )
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
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. ( 16611713 )
2006
7
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. ( 15126534 )
2004
8
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

Variations for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

75 (show all 13)
# Symbol AA change Variation ID SNP ID
1 NR3C2 p.Leu924Pro VAR_015627
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
9 NR3C2 p.Ser805Pro VAR_031275
10 NR3C2 p.Ser815Arg VAR_031276
11 NR3C2 p.Ser818Leu VAR_031277
12 NR3C2 p.Glu972Gly VAR_031278
13 NR3C2 p.Leu979Pro VAR_031279

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

6
(show top 50) (show all 682)
# 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 NR3C2, IVS5, 1-BP DEL, A, +3 deletion Pathogenic
6 NR3C2 NR3C2, 1-BP INS, 2871C insertion Pathogenic
7 NR3C2 NM_000901.4(NR3C2): c.2771T> C (p.Leu924Pro) single nucleotide variant Pathogenic rs121912563 GRCh37 Chromosome 4, 149035283: 149035283
8 NR3C2 NM_000901.4(NR3C2): c.2771T> C (p.Leu924Pro) single nucleotide variant Pathogenic rs121912563 GRCh38 Chromosome 4, 148114132: 148114132
9 NR3C2 NR3C2, 1-BP INS, 1354T insertion Pathogenic
10 NR3C2 NR3C2, 8-BP DEL, NT537 deletion Pathogenic
11 NR3C2 NM_000901.4(NR3C2): c.1935C> A (p.Cys645Ter) single nucleotide variant Pathogenic rs121912564 GRCh37 Chromosome 4, 149115976: 149115976
12 NR3C2 NM_000901.4(NR3C2): c.1935C> A (p.Cys645Ter) single nucleotide variant Pathogenic rs121912564 GRCh38 Chromosome 4, 148194825: 148194825
13 NR3C2 NM_000901.4(NR3C2): c.2327A> G (p.Gln776Arg) single nucleotide variant Pathogenic rs121912565 GRCh37 Chromosome 4, 149075740: 149075740
14 NR3C2 NM_000901.4(NR3C2): c.2327A> G (p.Gln776Arg) single nucleotide variant Pathogenic rs121912565 GRCh38 Chromosome 4, 148154589: 148154589
15 NR3C2 NM_000901.4(NR3C2): c.1897G> A (p.Gly633Arg) single nucleotide variant Pathogenic rs121912566 GRCh37 Chromosome 4, 149181130: 149181130
16 NR3C2 NM_000901.4(NR3C2): c.1897G> A (p.Gly633Arg) single nucleotide variant Pathogenic rs121912566 GRCh38 Chromosome 4, 148259978: 148259978
17 NR3C2 NM_000901.4(NR3C2): c.2936T> C (p.Leu979Pro) single nucleotide variant Pathogenic rs121912567 GRCh37 Chromosome 4, 149002514: 149002514
18 NR3C2 NM_000901.4(NR3C2): c.2936T> C (p.Leu979Pro) single nucleotide variant Pathogenic rs121912567 GRCh38 Chromosome 4, 148081363: 148081363
19 NR3C2 NM_000901.4(NR3C2): c.488C> G (p.Ser163Ter) single nucleotide variant Pathogenic rs121912568 GRCh37 Chromosome 4, 149357525: 149357525
20 NR3C2 NM_000901.4(NR3C2): c.488C> G (p.Ser163Ter) single nucleotide variant Pathogenic rs121912568 GRCh38 Chromosome 4, 148436373: 148436373
21 NR3C2 NM_000901.4(NR3C2): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic rs121912569 GRCh37 Chromosome 4, 149002611: 149002611
22 NR3C2 NM_000901.4(NR3C2): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic rs121912569 GRCh38 Chromosome 4, 148081460: 148081460
23 NR3C2 NM_000901.4(NR3C2): c.1308T> A (p.Cys436Ter) single nucleotide variant Pathogenic rs121912570 GRCh37 Chromosome 4, 149356705: 149356705
24 NR3C2 NM_000901.4(NR3C2): c.1308T> A (p.Cys436Ter) single nucleotide variant Pathogenic rs121912570 GRCh38 Chromosome 4, 148435553: 148435553
25 NR3C2 NM_000901.4(NR3C2): c.2017C> T (p.Arg673Ter) single nucleotide variant Likely pathogenic rs121912571 GRCh37 Chromosome 4, 149076050: 149076050
26 NR3C2 NM_000901.4(NR3C2): c.2017C> T (p.Arg673Ter) single nucleotide variant Likely pathogenic rs121912571 GRCh38 Chromosome 4, 148154899: 148154899
27 NR3C2 NM_000901.4(NR3C2): c.2024C> G (p.Ser675Ter) single nucleotide variant Pathogenic rs121912572 GRCh37 Chromosome 4, 149076043: 149076043
28 NR3C2 NM_000901.4(NR3C2): c.2024C> G (p.Ser675Ter) single nucleotide variant Pathogenic rs121912572 GRCh38 Chromosome 4, 148154892: 148154892
29 NR3C2 NM_000901.4(NR3C2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912573 GRCh37 Chromosome 4, 149073677: 149073677
30 NR3C2 NM_000901.4(NR3C2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912573 GRCh38 Chromosome 4, 148152526: 148152526
31 NR3C2 NM_000901.4(NR3C2): c.2915A> G (p.Glu972Gly) single nucleotide variant Pathogenic rs121912574 GRCh37 Chromosome 4, 149002535: 149002535
32 NR3C2 NM_000901.4(NR3C2): c.2915A> G (p.Glu972Gly) single nucleotide variant Pathogenic rs121912574 GRCh38 Chromosome 4, 148081384: 148081384
33 CUL3 NM_003590.4(CUL3): c.1992A> G (p.Gln664=) single nucleotide variant Benign rs2070127 GRCh37 Chromosome 2, 225346646: 225346646
34 CUL3 NM_003590.4(CUL3): c.1992A> G (p.Gln664=) single nucleotide variant Benign rs2070127 GRCh38 Chromosome 2, 224481929: 224481929
35 CUL3 NM_003590.4(CUL3): c.1699G> A (p.Val567Ile) single nucleotide variant Benign rs3738952 GRCh37 Chromosome 2, 225362478: 225362478
36 CUL3 NM_003590.4(CUL3): c.1699G> A (p.Val567Ile) single nucleotide variant Benign rs3738952 GRCh38 Chromosome 2, 224497761: 224497761
37 CUL3 NM_003590.4(CUL3): c.1485+13G> A single nucleotide variant Benign rs3754629 GRCh37 Chromosome 2, 225367669: 225367669
38 CUL3 NM_003590.4(CUL3): c.1485+13G> A single nucleotide variant Benign rs3754629 GRCh38 Chromosome 2, 224502952: 224502952
39 NR3C2 NM_000901.4(NR3C2): c.2178G> A (p.Gln726=) single nucleotide variant Likely benign rs144234574 GRCh37 Chromosome 4, 149075889: 149075889
40 NR3C2 NM_000901.4(NR3C2): c.2178G> A (p.Gln726=) single nucleotide variant Likely benign rs144234574 GRCh38 Chromosome 4, 148154738: 148154738
41 NR3C2 NM_000901.4(NR3C2): c.1497T> C (p.Asp499=) single nucleotide variant Benign rs5525 GRCh37 Chromosome 4, 149356516: 149356516
42 NR3C2 NM_000901.4(NR3C2): c.1497T> C (p.Asp499=) single nucleotide variant Benign rs5525 GRCh38 Chromosome 4, 148435364: 148435364
43 NR3C2 NM_000901.4(NR3C2): c.538G> A (p.Val180Ile) single nucleotide variant Benign rs5522 GRCh37 Chromosome 4, 149357475: 149357475
44 NR3C2 NM_000901.4(NR3C2): c.538G> A (p.Val180Ile) single nucleotide variant Benign rs5522 GRCh38 Chromosome 4, 148436323: 148436323
45 NR3C2 NM_000901.4(NR3C2): c.-2C> G single nucleotide variant Benign rs2070951 GRCh38 Chromosome 4, 148436862: 148436862
46 NR3C2 NM_000901.4(NR3C2): c.-2C> G single nucleotide variant Benign rs2070951 GRCh37 Chromosome 4, 149358014: 149358014
47 KLHL3 NM_017415.2(KLHL3): c.1611G> T (p.Gly537=) single nucleotide variant Benign rs17171525 GRCh38 Chromosome 5, 137625877: 137625877
48 KLHL3 NM_017415.2(KLHL3): c.1611G> T (p.Gly537=) single nucleotide variant Benign rs17171525 GRCh37 Chromosome 5, 136961566: 136961566
49 KLHL3 NM_017415.2(KLHL3): c.1383G> A (p.Glu461=) single nucleotide variant Benign rs2301708 GRCh38 Chromosome 5, 137634104: 137634104
50 KLHL3 NM_017415.2(KLHL3): c.1383G> A (p.Glu461=) single nucleotide variant Benign rs2301708 GRCh37 Chromosome 5, 136969793: 136969793

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
12.89 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 11.44 ERAS SGK1
6
Show member pathways
11.34 NR3C2 REN
7 10.98 SCNN1A SCNN1B SCNN1G
8 10.72 SCNN1A SCNN1B SCNN1G SGK1
9 10.59 NR3C2 SCNN1A SCNN1B SCNN1G SGK1
10 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 9.63 SCNN1A SCNN1B SCNN1G
2 ion transmembrane transport GO:0034220 9.62 SCNN1A SCNN1B SCNN1G SGK1
3 sodium ion transmembrane transport GO:0035725 9.54 SCNN1A SCNN1B SCNN1G
4 sodium ion transport GO:0006814 9.46 SCNN1A SCNN1B SCNN1G SGK1
5 regulation of blood pressure GO:0008217 9.43 REN SGK1
6 sensory perception of taste GO:0050909 9.43 SCNN1A SCNN1B SCNN1G
7 excretion GO:0007588 9.4 SCNN1B SCNN1G
8 sodium ion homeostasis GO:0055078 9.13 SCNN1A SCNN1B SCNN1G
9 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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