PHA1A
MCID: PSD112
MIFTS: 50

Pseudohypoaldosteronism, Type I, Autosomal Dominant (PHA1A)

Categories: Blood diseases, Cardiovascular 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 57 70
Autosomal Dominant Pseudohypoaldosteronism Type 1 12 20 58 29 6 15
Pha1a 57 12 20 72
Pseudohypoaldosteronism Type I, Autosomal Dominant 57 72 13
Pseudohypoaldosteronism Type 1 Autosomal Dominant 20 39
Renal Pseudohypoaldosteronism Type 1 20 58
Pseudohypoaldosteronism 1, Autosomal Dominant 72
Pseudohypoaldosteronism Type 1, Dominant 20
Pha Type I, Autosomal Dominant 72
Pha I, Autosomal Dominant 57
Autosomal Dominant Pha 1 12
Renal Pha1 20

Characteristics:

Orphanet epidemiological data:

58
renal pseudohypoaldosteronism type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
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:

31
pseudohypoaldosteronism, type i, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0060855
OMIM® 57 177735
MeSH 44 D011546
ICD10 via Orphanet 33 N25.8
UMLS via Orphanet 71 C1449842
Orphanet 58 ORPHA171871
MedGen 41 C1449842
UMLS 70 C1449842 C1449843

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) (Updated 20-May-2021)

MalaCards based summary : Pseudohypoaldosteronism, Type I, Autosomal Dominant, also known as autosomal dominant pseudohypoaldosteronism type 1, is related to metabolic acidosis and pseudohypoaldosteronism, type i, autosomal recessive, 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 G-Beta Gamma Signaling. The drugs Cefepime and Maleic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and adrenal gland, 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.

GARD : 20 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 : 72 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 35)
# Related Disease Score Top Affiliating Genes
1 metabolic acidosis 30.2 SCNN1G SCNN1B SCNN1A CUL3
2 pseudohypoaldosteronism, type i, autosomal recessive 29.6 SLC26A11 SCNN1G SCNN1B SCNN1A REN NR3C2
3 pseudohypoaldosteronism 28.9 SGK1 SCNN1G SCNN1B SCNN1A REN NR3C2
4 urinary tract infection 10.1
5 urinary tract obstruction 10.1
6 posterior urethral valves 10.1
7 hypertensive retinopathy 10.1 REN NR3C2
8 left bundle branch hemiblock 10.1 REN NR3C2
9 anuria 10.1 REN NR3C2
10 steroid inherited metabolic disorder 10.1 REN NR3C2
11 apparent mineralocorticoid excess 10.1 REN NR3C2
12 mitral valve insufficiency 10.1 REN NR3C2
13 corticosterone methyloxidase type i deficiency 10.1 SCNN1G REN
14 apnea, obstructive sleep 10.1 REN NR3C2
15 hyperaldosteronism, familial, type i 10.0 REN NR3C2
16 renal hypertension 10.0 REN NR3C2
17 acute cystitis 10.0 REN NR3C2
18 hypertensive heart disease 10.0 REN NR3C2
19 familial hypertension 10.0 REN NR3C2 CUL3
20 arthrogryposis, distal, type 3 10.0 REN NR3C2 CUL3
21 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 SCNN1G REN NR3C2
22 miliaria rubra 10.0 SCNN1G SCNN1B SCNN1A
23 miliaria 10.0 SCNN1G SCNN1B SCNN1A
24 mineral metabolism disease 10.0 REN NR3C2
25 bartter syndrome, type 2, antenatal 10.0 SCNN1G SCNN1B SCNN1A
26 renal tubular acidosis 9.9 SCNN1G REN NR3C2
27 idiopathic bronchiectasis 9.9 SCNN1G SCNN1B SCNN1A
28 bronchiectasis 9.9 SCNN1G SCNN1B SCNN1A
29 adrenal gland disease 9.9 REN NR3C2
30 adrenal adenoma 9.8 REN NR3C2
31 renal tubular transport disease 9.6 SCNN1G SCNN1B SCNN1A REN NR3C2
32 bartter disease 9.5 SCNN1G SCNN1B SCNN1A REN NR3C2
33 cystic fibrosis 9.4 SGK1 SCNN1G SCNN1B SCNN1A
34 hypertension, essential 9.1 SGK1 SCNN1G SCNN1B SCNN1A REN NR3C2
35 liddle syndrome 1 8.8 SGK1 SCNN1G SCNN1B SCNN1A REN NR3C2

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 hypotension 31 HP:0002615
3 dehydration 31 HP:0001944
4 vomiting 31 HP:0002013
5 hyperaldosteronism 31 HP:0000859
6 hyponatremia 31 HP:0002902
7 hyperkalemia 31 HP:0002153
8 feeding difficulties 31 HP:0011968
9 metabolic acidosis 31 HP:0001942
10 diarrhea 31 HP:0002014
11 increased circulating renin level 31 HP:0000848
12 hyperactive renin-angiotensin system 31 HP:0000841
13 pseudohypoaldosteronism 31 HP:0008242

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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


vomiting; diarrhea

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-101 9.4 SCNN1G
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.4 SCNN1G
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.4 SCNN1G
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.4 SGK1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-162 9.4 SLC26A11
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.4 SCNN1G
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 9.4 SCNN1G
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 9.4 SGK1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 9.4 SGK1 SLC26A11
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.4 SCNN1G
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.4 SCNN1G

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 9.86 ASIC5 CUL3 NR3C2 REN SCNN1A SCNN1B
2 homeostasis/metabolism MP:0005376 9.81 ASIC5 CUL3 NR3C2 REN SCNN1A SCNN1B
3 mortality/aging MP:0010768 9.56 CUL3 KANSL2 NR3C2 REN SCNN1A SCNN1B
4 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 Early Phase 1 110-16-7 444266

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1, Multiple-Dose, Open-Label Study to Determine and Compare Plasma and Intrapulmonary Concentrations of WCK 5222 (Cefepime and Zidebactam) in Healthy Adult Human Subjects Completed NCT03630094 Phase 1 FEP-ZID
2 A Single Site, Randomized, Double-blind, Placebo-controlled, Incremental Phase I Clinical Trial: to Evaluate the Tolerance, PK and PD Effects of TPN-672 Maleate in Chinese Healthy Volunteers After Single Dose Administration. Unknown status 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 Autosomal Dominant Pseudohypoaldosteronism Type 1 29 NR3C2

Anatomical Context for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

40
Kidney, Heart, Adrenal Gland

Publications for Pseudohypoaldosteronism, Type I, Autosomal Dominant

Articles related to Pseudohypoaldosteronism, Type I, Autosomal Dominant:

(show all 25)
# Title Authors PMID Year
1
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. 57 6 61
16954160 2006
2
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. 57 6
12788847 2003
3
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. 57 6
11344206 2001
4
A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. 57 6
11134129 2000
5
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. 57 6
9662404 1998
6
A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1. 61 6
27780983 2016
7
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. 61 6
16757525 2006
8
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. 61 6
16611713 2006
9
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. 6 61
15126534 2004
10
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. 61 6
12679457 2003
11
[Pseudohypoaldosteronisme type I: a rare cause of failure to thrive]. 6
22463955 2012
12
Clinical and molecular features of type 1 pseudohypoaldosteronism. 6
19571553 2009
13
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. 57
16972228 2007
14
A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). 6
14715854 2004
15
Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. 57
1939532 1991
16
Aldosterone-receptor deficiency in pseudohypoaldosteronism. 57
2932642 1985
17
Inheritance of pseudohypoaldosteronism. 57
78119 1978
18
A salt-losing syndrome in infancy. Pseudo-hypoadrenocorticalism. 57
13990509 1962
19
A salt wasting syndrome in infancy. 57
13545877 1958
20
Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism. 61
32021607 2020
21
Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia. 61
24688761 2014
22
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. 61
24455331 2013
23
Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. 61
20453518 2010
24
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. 61
19912655 2009
25
Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families. 61
17317952 2007

Variations for Pseudohypoaldosteronism, Type I, Autosomal Dominant

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

6 (show top 50) (show all 320)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR3C2 NR3C2, 1-BP DEL, 1226G Deletion Pathogenic 8553 GRCh37:
GRCh38:
2 NR3C2 NR3C2, 1-BP DEL, 1597T Deletion Pathogenic 8554 GRCh37:
GRCh38:
3 NR3C2 NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter) SNV Pathogenic 8555 rs121912562 GRCh37: 4:149356404-149356404
GRCh38: 4:148435252-148435252
4 NR3C2 NM_000901.5(NR3C2):c.2365+3del Deletion Pathogenic 8556 rs1560949756 GRCh37: 4:149075699-149075699
GRCh38: 4:148154548-148154548
5 NR3C2 NM_000901.5(NR3C2):c.2871dup (p.Ala958fs) Duplication Pathogenic 8558 rs1560910156 GRCh37: 4:149002578-149002579
GRCh38: 4:148081427-148081428
6 NR3C2 NM_000901.5(NR3C2):c.2771T>C (p.Leu924Pro) SNV Pathogenic 8559 rs121912563 GRCh37: 4:149035283-149035283
GRCh38: 4:148114132-148114132
7 NR3C2 NM_000901.5(NR3C2):c.1131dup (p.Glu378Ter) Duplication Pathogenic 8560 rs1560735659 GRCh37: 4:149356881-149356882
GRCh38: 4:148435729-148435730
8 NR3C2 NR3C2, 8-BP DEL, NT537 Deletion Pathogenic 8561 GRCh37:
GRCh38:
9 NR3C2 NM_000901.5(NR3C2):c.1935C>A (p.Cys645Ter) SNV Pathogenic 8562 rs121912564 GRCh37: 4:149115976-149115976
GRCh38: 4:148194825-148194825
10 NR3C2 NM_000901.5(NR3C2):c.2327A>G (p.Gln776Arg) SNV Pathogenic 8563 rs121912565 GRCh37: 4:149075740-149075740
GRCh38: 4:148154589-148154589
11 NR3C2 NM_000901.5(NR3C2):c.1897G>A (p.Gly633Arg) SNV Pathogenic 8564 rs121912566 GRCh37: 4:149181130-149181130
GRCh38: 4:148259978-148259978
12 NR3C2 NM_000901.5(NR3C2):c.2936T>C (p.Leu979Pro) SNV Pathogenic 8565 rs121912567 GRCh37: 4:149002514-149002514
GRCh38: 4:148081363-148081363
13 NR3C2 NM_000901.5(NR3C2):c.488C>G (p.Ser163Ter) SNV Pathogenic 8566 rs121912568 GRCh37: 4:149357525-149357525
GRCh38: 4:148436373-148436373
14 NR3C2 NM_000901.5(NR3C2):c.2839C>T (p.Arg947Ter) SNV Pathogenic 8567 rs121912569 GRCh37: 4:149002611-149002611
GRCh38: 4:148081460-148081460
15 NR3C2 NM_000901.5(NR3C2):c.1308T>A (p.Cys436Ter) SNV Pathogenic 8568 rs121912570 GRCh37: 4:149356705-149356705
GRCh38: 4:148435553-148435553
16 NR3C2 NM_000901.5(NR3C2):c.2024C>G (p.Ser675Ter) SNV Pathogenic 8570 rs121912572 GRCh37: 4:149076043-149076043
GRCh38: 4:148154892-148154892
17 NR3C2 NM_000901.5(NR3C2):c.2453C>T (p.Ser818Leu) SNV Pathogenic 8571 rs121912573 GRCh37: 4:149073677-149073677
GRCh38: 4:148152526-148152526
18 NR3C2 NM_000901.5(NR3C2):c.2915A>G (p.Glu972Gly) SNV Pathogenic 8572 rs121912574 GRCh37: 4:149002535-149002535
GRCh38: 4:148081384-148081384
19 NR3C2 NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter) SNV Pathogenic 430357 rs1131691921 GRCh37: 4:149115960-149115960
GRCh38: 4:148194809-148194809
20 NR3C2 NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) SNV Likely pathogenic 8569 rs121912571 GRCh37: 4:149076050-149076050
GRCh38: 4:148154899-148154899
21 NR3C2 NM_000901.5(NR3C2):c.2096del (p.Pro699fs) Deletion Likely pathogenic 522499 rs748573472 GRCh37: 4:149075971-149075971
GRCh38: 4:148154820-148154820
22 NR3C2 NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter) SNV Likely pathogenic 623200 rs1553986377 GRCh37: 4:149035299-149035299
GRCh38: 4:148114148-148114148
23 NR3C2 NM_000901.5(NR3C2):c.2657T>G (p.Leu886Arg) SNV Likely pathogenic 623478 rs1560928649 GRCh37: 4:149035397-149035397
GRCh38: 4:148114246-148114246
24 CUL3 NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys) SNV Likely pathogenic 559557 rs1553535841 GRCh37: 2:225422467-225422467
GRCh38: 2:224557750-224557750
25 NR3C2 NM_000901.5(NR3C2):c.*2578T>G SNV Uncertain significance 899470 GRCh37: 4:148999917-148999917
GRCh38: 4:148078766-148078766
26 NR3C2 NM_000901.5(NR3C2):c.2745G>A (p.Gly915=) SNV Uncertain significance 899614 GRCh37: 4:149035309-149035309
GRCh38: 4:148114158-148114158
27 NR3C2 NM_000901.5(NR3C2):c.2334C>T (p.Ile778=) SNV Uncertain significance 899615 GRCh37: 4:149075733-149075733
GRCh38: 4:148154582-148154582
28 NR3C2 NM_000901.5(NR3C2):c.1090A>T (p.Thr364Ser) SNV Uncertain significance 899684 GRCh37: 4:149356923-149356923
GRCh38: 4:148435771-148435771
29 NR3C2 NM_000901.5(NR3C2):c.*2384T>C SNV Uncertain significance 900603 GRCh37: 4:149000111-149000111
GRCh38: 4:148078960-148078960
30 NR3C2 NM_000901.5(NR3C2):c.*2296T>C SNV Uncertain significance 900604 GRCh37: 4:149000199-149000199
GRCh38: 4:148079048-148079048
31 NR3C2 NM_000901.5(NR3C2):c.*2289T>G SNV Uncertain significance 900605 GRCh37: 4:149000206-149000206
GRCh38: 4:148079055-148079055
32 NR3C2 NM_000901.5(NR3C2):c.*1110C>G SNV Uncertain significance 900670 GRCh37: 4:149001385-149001385
GRCh38: 4:148080234-148080234
33 NR3C2 NM_000901.5(NR3C2):c.*1088C>T SNV Uncertain significance 900671 GRCh37: 4:149001407-149001407
GRCh38: 4:148080256-148080256
34 NR3C2 NM_000901.5(NR3C2):c.*1019C>G SNV Uncertain significance 900672 GRCh37: 4:149001476-149001476
GRCh38: 4:148080325-148080325
35 NR3C2 NM_000901.5(NR3C2):c.*924C>T SNV Uncertain significance 900673 GRCh37: 4:149001571-149001571
GRCh38: 4:148080420-148080420
36 NR3C2 NM_000901.5(NR3C2):c.334G>C (p.Val112Leu) SNV Uncertain significance 900826 GRCh37: 4:149357679-149357679
GRCh38: 4:148436527-148436527
37 NR3C2 NM_000901.5(NR3C2):c.218G>A (p.Cys73Tyr) SNV Uncertain significance 900827 GRCh37: 4:149357795-149357795
GRCh38: 4:148436643-148436643
38 NR3C2 NM_000901.5(NR3C2):c.215C>G (p.Pro72Arg) SNV Uncertain significance 900828 GRCh37: 4:149357798-149357798
GRCh38: 4:148436646-148436646
39 NR3C2 NM_000901.5(NR3C2):c.*1797A>G SNV Uncertain significance 902342 GRCh37: 4:149000698-149000698
GRCh38: 4:148079547-148079547
40 NR3C2 NM_000901.5(NR3C2):c.*813G>A SNV Uncertain significance 902415 GRCh37: 4:149001682-149001682
GRCh38: 4:148080531-148080531
41 NR3C2 NM_000901.5(NR3C2):c.*586G>A SNV Uncertain significance 902416 GRCh37: 4:149001909-149001909
GRCh38: 4:148080758-148080758
42 NR3C2 NM_000901.5(NR3C2):c.*519G>A SNV Uncertain significance 902417 GRCh37: 4:149001976-149001976
GRCh38: 4:148080825-148080825
43 NR3C2 NM_000901.5(NR3C2):c.*1290G>A SNV Uncertain significance 899537 GRCh37: 4:149001205-149001205
GRCh38: 4:148080054-148080054
44 NR3C2 NM_000901.5(NR3C2):c.934A>G (p.Ser312Gly) SNV Uncertain significance 899686 GRCh37: 4:149357079-149357079
GRCh38: 4:148435927-148435927
45 NR3C2 NM_000901.5(NR3C2):c.822C>A (p.Ser274Arg) SNV Uncertain significance 899687 GRCh37: 4:149357191-149357191
GRCh38: 4:148436039-148436039
46 NR3C2 NM_000901.5(NR3C2):c.1686A>C (p.Ser562=) SNV Uncertain significance 902488 GRCh37: 4:149356327-149356327
GRCh38: 4:148435175-148435175
47 NR3C2 NM_000901.5(NR3C2):c.100A>G (p.Thr34Ala) SNV Uncertain significance 902560 GRCh37: 4:149357913-149357913
GRCh38: 4:148436761-148436761
48 NR3C2 NM_000901.5(NR3C2):c.-5C>A SNV Uncertain significance 902561 GRCh37: 4:149363314-149363314
GRCh38: 4:148442162-148442162
49 CUL3 NM_003590.5(CUL3):c.*2469G>C SNV Uncertain significance 334596 rs886055686 GRCh37: 2:225336493-225336493
GRCh38: 2:224471776-224471776
50 NR3C2 NM_000901.5(NR3C2):c.-14C>G SNV Uncertain significance 347741 rs886059131 GRCh37: 4:149363323-149363323
GRCh38: 4:148442171-148442171

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

72 (show all 13)
# Symbol AA change Variation ID SNP ID
1 NR3C2 p.Leu924Pro VAR_015627 rs121912563
2 NR3C2 p.Gly633Arg VAR_031268 rs121912566
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

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
12.97 SLC26A11 SGK1 SCNN1G SCNN1B SCNN1A ASIC5
2
Show member pathways
12.19 SCNN1G SCNN1B SCNN1A
3
Show member pathways
12.15 SGK1 SCNN1G SCNN1B SCNN1A ASIC5
4
Show member pathways
11.68 SCNN1G SCNN1B SCNN1A
5 11.04 SCNN1G SCNN1B SCNN1A
6 10.72 SGK1 SCNN1G SCNN1B SCNN1A
7 10.59 SGK1 SCNN1G SCNN1B SCNN1A NR3C2
8 10.45 SCNN1G SCNN1B SCNN1A

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 membrane GO:0016020 10.02 SLC26A11 SGK1 SCNN1G SCNN1B SCNN1A REN
2 integral component of plasma membrane GO:0005887 9.65 SLC26A11 SCNN1G SCNN1B SCNN1A ASIC5
3 plasma membrane GO:0005886 9.61 SLC26A11 SGK1 SCNN1G SCNN1B SCNN1A REN
4 apical plasma membrane GO:0016324 9.5 SCNN1G SCNN1B SCNN1A
5 plasma membrane protein complex GO:0098797 9.16 SCNN1G SCNN1B
6 sodium channel complex GO:0034706 8.8 SCNN1G SCNN1B SCNN1A

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.83 SLC26A11 SCNN1G SCNN1B SCNN1A ASIC5
2 ion transmembrane transport GO:0034220 9.72 SGK1 SCNN1G SCNN1B SCNN1A ASIC5
3 sodium ion transmembrane transport GO:0035725 9.67 SCNN1G SCNN1B SCNN1A ASIC5
4 sensory perception of taste GO:0050909 9.58 SCNN1G SCNN1B SCNN1A
5 regulation of blood pressure GO:0008217 9.48 SGK1 REN
6 excretion GO:0007588 9.46 SCNN1G SCNN1B
7 sodium ion homeostasis GO:0055078 9.43 SCNN1G SCNN1B SCNN1A
8 sodium ion transport GO:0006814 9.35 SGK1 SCNN1G SCNN1B SCNN1A ASIC5
9 multicellular organismal water homeostasis GO:0050891 9.33 SCNN1G SCNN1B SCNN1A
10 cellular response to aldosterone GO:1904045 8.8 SGK1 SCNN1G SCNN1B

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

# Name GO ID Score Top Affiliating Genes
1 WW domain binding GO:0050699 9.33 SCNN1G SCNN1B SCNN1A
2 sodium channel activity GO:0005272 9.26 SCNN1G SCNN1B SCNN1A ASIC5
3 ligand-gated sodium channel activity GO:0015280 8.92 SCNN1G SCNN1B SCNN1A ASIC5

Sources for Pseudohypoaldosteronism, Type I, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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