PHA1A
MCID: PSD112
MIFTS: 48

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 56 71
Autosomal Dominant Pseudohypoaldosteronism Type 1 12 52 58 29 6 15
Pha1a 56 12 52 73
Pseudohypoaldosteronism Type I, Autosomal Dominant 56 73 13
Pseudohypoaldosteronism Type 1 Autosomal Dominant 52 39
Renal Pseudohypoaldosteronism Type 1 52 58
Pseudohypoaldosteronism 1, Autosomal Dominant 73
Pseudohypoaldosteronism Type 1, Dominant 52
Pha Type I, Autosomal Dominant 73
Pha I, Autosomal Dominant 56
Autosomal Dominant Pha 1 12
Renal Pha1 52

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:

56
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 56 177735
MeSH 43 D011546
ICD10 via Orphanet 33 N25.8
UMLS via Orphanet 72 C1449842
Orphanet 58 ORPHA171871
MedGen 41 C1449842
UMLS 71 C1449842 C1449843

Summaries for Pseudohypoaldosteronism, Type I, Autosomal Dominant

OMIM : 56 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 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 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, and related phenotypes are failure to thrive and dehydration

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 : 52 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 : 73 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 31)
# Related Disease Score Top Affiliating Genes
1 metabolic acidosis 30.5 SCNN1G SCNN1B SCNN1A
2 pseudohypoaldosteronism, type i, autosomal recessive 29.6 SLC26A11 SCNN1G SCNN1B SCNN1A REN NR3C2
3 pseudohypoaldosteronism 28.8 SGK1 SCNN1G SCNN1B SCNN1A REN NR3C2
4 familial hypertension 10.2 REN NR3C2
5 corticosterone methyloxidase type i deficiency 10.2 SCNN1G REN
6 left bundle branch hemiblock 10.1 REN NR3C2
7 acute cystitis 10.1
8 urinary tract obstruction 10.1
9 posterior urethral valves 10.1
10 anuria 10.1 REN NR3C2
11 apparent mineralocorticoid excess 10.1 REN NR3C2
12 steroid inherited metabolic disorder 10.1 REN NR3C2
13 hyperaldosteronism, familial, type i 10.1 REN NR3C2
14 arthrogryposis, distal, type 3 10.1 REN NR3C2
15 mitral valve insufficiency 10.1 REN NR3C2
16 hypertensive heart disease 10.0 REN NR3C2
17 mineral metabolism disease 10.0 REN NR3C2
18 bartter syndrome, type 2, antenatal 10.0 SCNN1B SCNN1A NR3C2
19 miliaria 10.0 SCNN1G SCNN1B SCNN1A
20 idiopathic bronchiectasis 10.0 SCNN1G SCNN1B SCNN1A
21 bronchiectasis 10.0 SCNN1G SCNN1B SCNN1A
22 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 SCNN1G REN NR3C2
23 adrenal gland disease 9.9 REN NR3C2
24 renal tubular acidosis 9.9 SCNN1G REN NR3C2
25 adrenal adenoma 9.9 REN NR3C2
26 miliaria rubra 9.7 SCNN1G SCNN1B SCNN1A NR3C2
27 hypokalemia 9.7 REN NR3C2
28 renal tubular transport disease 9.4 SCNN1G SCNN1B SCNN1A REN NR3C2
29 cystic fibrosis 9.4 SGK1 SCNN1G SCNN1B SCNN1A
30 hypertension, essential 8.9 SGK1 SCNN1G SCNN1B SCNN1A REN NR3C2
31 liddle syndrome 1 8.6 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 dehydration 31 HP:0001944
3 vomiting 31 HP:0002013
4 feeding difficulties 31 HP:0011968
5 hyperaldosteronism 31 HP:0000859
6 hyponatremia 31 HP:0002902
7 hyperkalemia 31 HP:0002153
8 metabolic acidosis 31 HP:0001942
9 hypotension 31 HP:0002615
10 diarrhea 31 HP:0002014
11 increased circulating renin level 31 HP:0000848
12 pseudohypoaldosteronism 31 HP:0008242
13 hyperactive renin-angiotensin system 31 HP:0000841

Symptoms via clinical synopsis from OMIM:

56
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

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 ASIC5 NR3C2 REN SCNN1A SCNN1B SCNN1G
2 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 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. 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 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

Publications for Pseudohypoaldosteronism, Type I, Autosomal Dominant

Articles related to Pseudohypoaldosteronism, Type I, Autosomal Dominant:

(show all 23)
# Title Authors PMID Year
1
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. 61 56 6
16954160 2006
2
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. 56 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. 56 6
11344206 2001
4
A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. 56 6
11134129 2000
5
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. 56 6
9662404 1998
6
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
7
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. 6 61
16611713 2006
8
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. 61 6
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. 61 6
12679457 2003
10
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. 56
16972228 2007
11
A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). 6
14715854 2004
12
Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. 56
1939532 1991
13
Aldosterone-receptor deficiency in pseudohypoaldosteronism. 56
2932642 1985
14
Inheritance of pseudohypoaldosteronism. 56
78119 1978
15
A salt-losing syndrome in infancy. Pseudo-hypoadrenocorticalism. 56
13990509 1962
16
A salt wasting syndrome in infancy. 56
13545877 1958
17
Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism. 61
32021607 2020
18
A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1. 61
27780983 2016
19
Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia. 61
24688761 2014
20
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. 61
24455331 2013
21
Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. 61
20453518 2010
22
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. 61
19912655 2009
23
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 317) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NR3C2 NR3C2, 1-BP DEL, 1226Gdeletion Pathogenic 8553
2 NR3C2 NR3C2, 1-BP DEL, 1597Tdeletion Pathogenic 8554
3 NR3C2 NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter)SNV Pathogenic 8555 rs121912562 4:149356404-149356404 4:148435252-148435252
4 NR3C2 NM_000901.5(NR3C2):c.2365+3deldeletion Pathogenic 8556 rs1560949756 4:149075699-149075699 4:148154548-148154548
5 NR3C2 NM_000901.5(NR3C2):c.2871dup (p.Ala958fs)duplication Pathogenic 8558 rs1560910156 4:149002578-149002579 4:148081427-148081428
6 NR3C2 NM_000901.5(NR3C2):c.2771T>C (p.Leu924Pro)SNV Pathogenic 8559 rs121912563 4:149035283-149035283 4:148114132-148114132
7 NR3C2 NM_000901.5(NR3C2):c.1131dup (p.Glu378Ter)duplication Pathogenic 8560 rs1560735659 4:149356881-149356882 4:148435729-148435730
8 NR3C2 NR3C2, 8-BP DEL, NT537deletion Pathogenic 8561
9 NR3C2 NM_000901.5(NR3C2):c.1935C>A (p.Cys645Ter)SNV Pathogenic 8562 rs121912564 4:149115976-149115976 4:148194825-148194825
10 NR3C2 NM_000901.5(NR3C2):c.2327A>G (p.Gln776Arg)SNV Pathogenic 8563 rs121912565 4:149075740-149075740 4:148154589-148154589
11 NR3C2 NM_000901.5(NR3C2):c.1897G>A (p.Gly633Arg)SNV Pathogenic 8564 rs121912566 4:149181130-149181130 4:148259978-148259978
12 NR3C2 NM_000901.5(NR3C2):c.2936T>C (p.Leu979Pro)SNV Pathogenic 8565 rs121912567 4:149002514-149002514 4:148081363-148081363
13 NR3C2 NM_000901.5(NR3C2):c.488C>G (p.Ser163Ter)SNV Pathogenic 8566 rs121912568 4:149357525-149357525 4:148436373-148436373
14 NR3C2 NM_000901.5(NR3C2):c.2839C>T (p.Arg947Ter)SNV Pathogenic 8567 rs121912569 4:149002611-149002611 4:148081460-148081460
15 NR3C2 NM_000901.5(NR3C2):c.1308T>A (p.Cys436Ter)SNV Pathogenic 8568 rs121912570 4:149356705-149356705 4:148435553-148435553
16 NR3C2 NM_000901.5(NR3C2):c.2024C>G (p.Ser675Ter)SNV Pathogenic 8570 rs121912572 4:149076043-149076043 4:148154892-148154892
17 NR3C2 NM_000901.5(NR3C2):c.2453C>T (p.Ser818Leu)SNV Pathogenic 8571 rs121912573 4:149073677-149073677 4:148152526-148152526
18 NR3C2 NM_000901.5(NR3C2):c.2915A>G (p.Glu972Gly)SNV Pathogenic 8572 rs121912574 4:149002535-149002535 4:148081384-148081384
19 NR3C2 NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter)SNV Likely pathogenic 8569 rs121912571 4:149076050-149076050 4:148154899-148154899
20 NR3C2 NM_000901.5(NR3C2):c.2096del (p.Pro699fs)deletion Likely pathogenic 522499 rs748573472 4:149075971-149075971 4:148154820-148154820
21 CUL3 NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys)SNV Likely pathogenic 559557 rs1553535841 2:225422467-225422467 2:224557750-224557750
22 NR3C2 NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter)SNV Likely pathogenic 623200 rs1553986377 4:149035299-149035299 4:148114148-148114148
23 NR3C2 NM_000901.5(NR3C2):c.2657T>G (p.Leu886Arg)SNV Likely pathogenic 623478 rs1560928649 4:149035397-149035397 4:148114246-148114246
24 CUL3 NM_003590.5(CUL3):c.*2272T>CSNV Conflicting interpretations of pathogenicity 334599 rs556914502 2:225336690-225336690 2:224471973-224471973
25 CUL3 NM_003590.5(CUL3):c.*2130A>GSNV Conflicting interpretations of pathogenicity 334603 rs555995940 2:225336832-225336832 2:224472115-224472115
26 CUL3 NM_003590.5(CUL3):c.*3665T>ASNV Conflicting interpretations of pathogenicity 334576 rs374191606 2:225335297-225335297 2:224470580-224470580
27 CUL3 NM_003590.5(CUL3):c.*89A>TSNV Conflicting interpretations of pathogenicity 334625 rs192166927 2:225338873-225338873 2:224474156-224474156
28 CUL3 NM_003590.5(CUL3):c.*3753T>CSNV Conflicting interpretations of pathogenicity 334573 rs558805673 2:225335209-225335209 2:224470492-224470492
29 CUL3 NM_003590.5(CUL3):c.*294A>GSNV Conflicting interpretations of pathogenicity 334622 rs532967850 2:225338668-225338668 2:224473951-224473951
30 KLHL3 NM_017415.3(KLHL3):c.*2360G>ASNV Conflicting interpretations of pathogenicity 350951 rs533076689 5:136955427-136955427 5:137619738-137619738
31 KLHL3 NM_017415.3(KLHL3):c.*1583C>TSNV Conflicting interpretations of pathogenicity 350962 rs554048189 5:136956204-136956204 5:137620515-137620515
32 KLHL3 NM_017415.3(KLHL3):c.*299G>ASNV Conflicting interpretations of pathogenicity 350978 rs539132895 5:136957488-136957488 5:137621799-137621799
33 KLHL3 NM_017415.3(KLHL3):c.*4066C>TSNV Conflicting interpretations of pathogenicity 350924 rs544519958 5:136953721-136953721 5:137618032-137618032
34 KLHL3 NM_017415.3(KLHL3):c.*790G>ASNV Conflicting interpretations of pathogenicity 350970 rs572765305 5:136956997-136956997 5:137621308-137621308
35 KLHL3 NM_017415.3(KLHL3):c.*224G>TSNV Conflicting interpretations of pathogenicity 350979 rs536807069 5:136957563-136957563 5:137621874-137621874
36 KLHL3 NM_017415.3(KLHL3):c.*141C>TSNV Conflicting interpretations of pathogenicity 350981 rs189064290 5:136957646-136957646 5:137621957-137621957
37 KLHL3 NM_017415.3(KLHL3):c.756G>A (p.Thr252=)SNV Conflicting interpretations of pathogenicity 350993 rs143617205 5:136993967-136993967 5:137658278-137658278
38 KLHL3 NM_017415.3(KLHL3):c.-303G>CSNV Conflicting interpretations of pathogenicity 351000 rs567542768 5:137071638-137071638 5:137735949-137735949
39 KLHL3 NM_017415.3(KLHL3):c.*1651C>TSNV Conflicting interpretations of pathogenicity 350961 rs577834025 5:136956136-136956136 5:137620447-137620447
40 KLHL3 NM_017415.3(KLHL3):c.*39G>ASNV Conflicting interpretations of pathogenicity 350983 rs762735618 5:136957748-136957748 5:137622059-137622059
41 STX16 NM_001001433.3(STX16):c.*2363_*2366dupduplication Uncertain significance 339100 rs10695175 20:57253695-57253696 20:58678639-58678640
42 STX16 NM_001001433.3(STX16):c.*2364_*2366dupduplication Uncertain significance 339099 rs10695175 20:57253695-57253696 20:58678639-58678640
43 STX16 NM_001001433.3(STX16):c.*2348deldeletion Uncertain significance 339098 rs886056863 20:57253695-57253695 20:58678639-58678639
44 KLHL3 NM_017415.3(KLHL3):c.*1916G>ASNV Uncertain significance 350958 rs534983852 5:136955871-136955871 5:137620182-137620182
45 KLHL3 NM_017415.3(KLHL3):c.*3204_*3205insTinsertion Uncertain significance 350939 rs774186035 5:136954582-136954583 5:137618893-137618894
46 KLHL3 NM_017415.3(KLHL3):c.*3203_*3205deldeletion Uncertain significance 350937 rs886059943 5:136954582-136954584 5:137618893-137618895
47 KLHL3 NM_017415.3(KLHL3):c.*2763C>TSNV Uncertain significance 350945 rs550345984 5:136955024-136955024 5:137619335-137619335
48 KLHL3 NM_017415.3(KLHL3):c.*1434T>GSNV Uncertain significance 350964 rs886059949 5:136956353-136956353 5:137620664-137620664
49 KLHL3 NM_017415.3(KLHL3):c.*1055A>GSNV Uncertain significance 350968 rs886059950 5:136956732-136956732 5:137621043-137621043
50 KLHL3 NM_017415.3(KLHL3):c.*591_*594deldeletion Uncertain significance 350972 rs886059953 5:136957193-136957196 5:137621504-137621507

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

73 (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
12.99 SLC26A11 SGK1 SCNN1G SCNN1B SCNN1A ASIC5
2
Show member pathways
12.2 SCNN1G SCNN1B SCNN1A
3
Show member pathways
12.13 SGK1 SCNN1G SCNN1B SCNN1A ASIC5 ASIC4
4
Show member pathways
11.67 SCNN1G SCNN1B SCNN1A
5 11.09 SCNN1G SCNN1B SCNN1A
6 10.72 SGK1 SCNN1G SCNN1B SCNN1A
7 10.59 SGK1 SCNN1G SCNN1B SCNN1A NR3C2
8 10.55 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 9.97 SLC26A11 SGK1 SCNN1G SCNN1B SCNN1A REN
2 plasma membrane GO:0005886 9.56 SLC26A11 SGK1 SCNN1G SCNN1B SCNN1A REN
3 integral component of plasma membrane GO:0005887 9.55 SLC26A11 SCNN1G SCNN1B SCNN1A ASIC4
4 apical plasma membrane GO:0016324 9.43 SCNN1G SCNN1B SCNN1A
5 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 9.85 SLC26A11 SCNN1G SCNN1B SCNN1A ASIC5 ASIC4
2 ion transmembrane transport GO:0034220 9.63 SGK1 SCNN1G SCNN1B SCNN1A ASIC5 ASIC4
3 sensory perception of taste GO:0050909 9.58 SCNN1G SCNN1B SCNN1A
4 sodium ion homeostasis GO:0055078 9.5 SCNN1G SCNN1B SCNN1A
5 regulation of blood pressure GO:0008217 9.46 SGK1 REN
6 excretion GO:0007588 9.43 SCNN1G SCNN1B
7 multicellular organismal water homeostasis GO:0050891 9.43 SCNN1G SCNN1B SCNN1A
8 sodium ion transmembrane transport GO:0035725 9.35 SCNN1G SCNN1B SCNN1A ASIC5 ASIC4
9 sodium ion transport GO:0006814 9.1 SGK1 SCNN1G SCNN1B SCNN1A ASIC5 ASIC4

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 ligand-gated sodium channel activity GO:0015280 9.26 SCNN1G SCNN1B SCNN1A ASIC5
3 sodium channel activity GO:0005272 9.02 SCNN1G SCNN1B SCNN1A ASIC5 ASIC4

Sources for Pseudohypoaldosteronism, Type I, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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