PHA2E
MCID: PSD092
MIFTS: 48

Pseudohypoaldosteronism, Type Iie (PHA2E)

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

Aliases & Classifications for Pseudohypoaldosteronism, Type Iie

MalaCards integrated aliases for Pseudohypoaldosteronism, Type Iie:

Name: Pseudohypoaldosteronism, Type Iie 57 13 70
Pseudohypoaldosteronism Type 2e 58 29 6 39
Gordon's Syndrome 25 43 29 6
Gordon Hyperkalemia-Hypertension Syndrome 20 43 58
Familial Hyperkalemic Hypertension 25 43 58
Pseudohypoaldosteronism Type 2 20 43 58
Pha2e 57 58 72
Phaii 25 43 58
Hyperpotassemia and Hypertension Familial 20 6
Pseudohypoaldosteronism Type Ii 25 43
Chloride Shunt Syndrome 20 58
Pha2 20 58
Hyperkalemia-Hypertension Syndrome, Gordon Type 58
Hyperpotassemia and Hypertension, Familial 70
Familial Hyperpotassemia and Hypertension 43
Mineralocorticoid Resistant Hyperkalemia 58
Familial Hypertensive Hyperkalemia 43
Pseudohypoaldosteronism, Type Iid 70
Pseudohypoaldosteronism, Type Ii 70
Spitzer-Weinstein Syndrome 58
Pseudohypoaldosteronism 2e 72
Hypertensive Hyperkalemia 58
Fhht 43

Characteristics:

Orphanet epidemiological data:

58
pseudohypoaldosteronism type 2
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: adult;
pseudohypoaldosteronism type 2e
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
responsive to thiazide diuretics
21 patients from 17 kindreds reported (as of february 2012)
age at diagnosis 9 +/- 6 years
94% develop hypertension at 18 years of age or less


HPO:

31
pseudohypoaldosteronism, type iie:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases


External Ids:

OMIM® 57 614496
OMIM Phenotypic Series 57 PS145260
MeSH 44 D011546
ICD10 via Orphanet 33 I15.1
UMLS via Orphanet 71 C1449844
MedGen 41 C3469606
UMLS 70 C1449844 C2713447 C3469605 more

Summaries for Pseudohypoaldosteronism, Type Iie

MedlinePlus Genetics : 43 Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys.People with PHA2 have high blood pressure (hypertension) and high levels of potassium in their blood (hyperkalemia) despite having normal kidney function. The age of onset of PHA2 is variable and difficult to pinpoint; some affected individuals are diagnosed in infancy or childhood, and others are diagnosed in adulthood. Hyperkalemia usually occurs first, and hypertension develops later in life. Affected individuals also have high levels of chloride (hyperchloremia) and acid (metabolic acidosis) in their blood (together, referred to as hyperchloremic metabolic acidosis). People with hyperkalemia, hyperchloremia, and metabolic acidosis can have nonspecific symptoms like nausea, vomiting, extreme tiredness (fatigue), and muscle weakness. People with PHA2 may also have high levels of calcium in their urine (hypercalciuria).

MalaCards based summary : Pseudohypoaldosteronism, Type Iie, also known as pseudohypoaldosteronism type 2e, is related to pseudohypoaldosteronism, type iia and pseudohyperkalemia, familial, 2, due to red cell leak. An important gene associated with Pseudohypoaldosteronism, Type Iie is CUL3 (Cullin 3), and among its related pathways/superpathways are PI3K / Akt Signaling and Diuretics Pathway, Pharmacodynamics. Affiliated tissues include kidney and bone, and related phenotypes are hypertension and hyperkalemia

GARD : 20 Psuedohypoaldosteronism type 2 is an inborn error of metabolism. It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis. It is caused by mutations in the WNK1 or WNK4 gene. Treatment may involve dietary restriction of sodium and hydrochlorothiazide.

UniProtKB/Swiss-Prot : 72 Pseudohypoaldosteronism 2E: An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics.

More information from OMIM: 614496 PS145260
GeneReviews: NBK65707

Related Diseases for Pseudohypoaldosteronism, Type Iie

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type iia 32.1 KLHL3 CUL3
2 pseudohyperkalemia, familial, 2, due to red cell leak 29.5 WNK4 WNK1
3 gitelman syndrome 29.1 WNK4 WNK1 KLHL3
4 metabolic acidosis 29.0 WNK4 WNK1 KLHL3 CUL3
5 pseudohypoaldosteronism 28.8 WNK4 WNK1 KLHL3 CUL3
6 familial hypertension 28.8 WNK4 WNK1 KLHL3 CUL3
7 arthrogryposis, distal, type 3 28.4 WNK4 WNK1 PIEZO2 KLHL3 CUL3
8 pseudohypoaldosteronism, type iid 11.7
9 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 10.2
10 pseudohypoaldosteronism, type iib 10.2
11 renal tubular acidosis 10.2
12 hypertension, essential 10.1
13 rare renal tubular disease 10.1
14 hypoaldosteronism 10.1
15 periodic paralysis 10.1
16 distal renal tubular acidosis 10.1
17 urinary tract infection 10.0
18 acute cystitis 10.0
19 urinary tract obstruction 10.0
20 renal tubular acidosis, proximal 10.0
21 bone mineral density quantitative trait locus 3 10.0
22 pseudohypoaldosteronism, type iic 10.0
23 hypokalemia 10.0
24 hypopituitarism 10.0
25 congenital hypopituitarism 10.0
26 autosomal recessive disease 9.9
27 cleft palate, isolated 9.9
28 hyperkalemic periodic paralysis 9.9
29 scoliosis 9.9
30 aldosterone-producing adenoma 9.9
31 hyperaldosteronism, familial, type i 9.6 WNK4 WNK1
32 neuropathy, hereditary sensory and autonomic, type iia 9.5 WNK4 WNK1
33 renal tubular transport disease 9.4 WNK4 WNK1 KLHL3
34 liddle syndrome 1 9.4 WNK4 WNK1 KLHL3
35 bartter disease 9.4 WNK4 WNK1 KLHL3
36 distal arthrogryposis 8.9 WNK4 WNK1 PIEZO2 KLHL3 CUL3

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism, Type Iie:



Diseases related to Pseudohypoaldosteronism, Type Iie

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iie

Human phenotypes related to Pseudohypoaldosteronism, Type Iie:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
2 hyperkalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002153
3 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
4 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
5 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
6 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
7 periodic paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003768
8 abnormality of the dentition 58 Occasional (29-5%)
9 growth delay 58 Occasional (29-5%)
10 hyperchloremic metabolic acidosis 31 HP:0004918
11 pseudohypoaldosteronism 31 HP:0008242
12 hyperchloremia 31 HP:0011423

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
hyperkalemia (7.5 +/- 0.9 mm)
hyperchloremia (mean 114 mm)

Metabolic Features:
hyperchloremic metabolic acidosis (hco3 15.5 +/- 2.0 mm)

Clinical features from OMIM®:

614496 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pseudohypoaldosteronism, Type Iie

Search Clinical Trials , NIH Clinical Center for Pseudohypoaldosteronism, Type Iie

Genetic Tests for Pseudohypoaldosteronism, Type Iie

Genetic tests related to Pseudohypoaldosteronism, Type Iie:

# Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 2e 29 CUL3
2 Gordon's Syndrome 29 PIEZO2

Anatomical Context for Pseudohypoaldosteronism, Type Iie

MalaCards organs/tissues related to Pseudohypoaldosteronism, Type Iie:

40
Kidney, Bone

Publications for Pseudohypoaldosteronism, Type Iie

Articles related to Pseudohypoaldosteronism, Type Iie:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. 57 25 6
22266938 2012
2
Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation. 6 25
15292344 2004
3
Human hypertension caused by mutations in WNK kinases. 6 25
11498583 2001
4
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. 6 25
9171836 1997
5
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. 6
30285720 2018
6
Familial Gordon syndrome associated with a PIEZO2 mutation. 6
27714920 2017
7
Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice. 6
24821705 2014
8
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 6
24726473 2014
9
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. 6
22406640 2012
10
A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2. 6
22910560 2012
11
Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. 6
15911806 2005
12
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. 6
15060842 2004
13
Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. 6
12107233 2002
14
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. 6
11152147 2001
15
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. 6
10869238 2000
16
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. 6
8423615 1993
17
Familial hyperpotassemia and hypertension accompanied by normal plasma aldosterone levels: possible hereditary cell membrane defect. 6
718348 1978
18
A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. 25
27780982 2016
19
WNK-SPAK-NCC cascade revisited: WNK1 stimulates the activity of the Na-Cl cotransporter via SPAK, an effect antagonized by WNK4. 25
25113964 2014
20
WNK4 is the major WNK positively regulating NCC in the mouse kidney. 25
24655003 2014
21
Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome). 25
24266877 2014
22
Decrease of WNK4 ubiquitination by disease-causing mutations of KLHL3 through different molecular mechanisms. 25
23962426 2013
23
WNK1-related Familial Hyperkalemic Hypertension results from an increased expression of L-WNK1 specifically in the distal nephron. 25
23940364 2013
24
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. 25
23902721 2013
25
Disease-causing mutations in KLHL3 impair its effect on WNK4 degradation. 25
23665031 2013
26
Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies. 25
22934535 2013
27
Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4. 25
23576762 2013
28
The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction. 25
23387299 2013
29
Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension. 25
23453970 2013
30
Disease-causing R1185C mutation of WNK4 disrupts a regulatory mechanism involving calmodulin binding and SGK1 phosphorylation sites. 25
23054253 2013
31
Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene. 25
21764813 2012
32
Activation of the renal Na+:Cl- cotransporter by angiotensin II is a WNK4-dependent process. 25
22550170 2012
33
Disease-causing mutations in the acidic motif of WNK4 impair the sensitivity of WNK4 kinase to calcium ions. 25
22342722 2012
34
Effect of age and affection status on blood pressure, serum potassium and stature in familial hyperkalaemia and hypertension. 25
20956807 2011
35
Downregulation of NCC and NKCC2 cotransporters by kidney-specific WNK1 revealed by gene disruption and transgenic mouse models. 25
21131289 2011
36
Decreased ENaC expression compensates the increased NCC activity following inactivation of the kidney-specific isoform of WNK1 and prevents hypertension. 25
20921400 2010
37
Regulation of ROMK channel and K+ homeostasis by kidney-specific WNK1 kinase. 25
19244242 2009
38
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. 25
18521183 2008
39
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. 25
19016006 2008
40
A novel protein kinase signaling pathway essential for blood pressure regulation in humans. 25
18280177 2008
41
WNK4 phosphorylates ser(206) of claudin-7 and promotes paracellular Cl(-) permeability. 25
17651736 2007
42
Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model. 25
17488636 2007
43
An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis. 25
17360471 2007
44
WNK4 regulates activity of the epithelial Na+ channel in vitro and in vivo. 25
17360470 2007
45
Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. 25
16964266 2006
46
WNK kinases influence TRPV4 channel function and localization. 25
16403833 2006
47
Dominant-negative regulation of WNK1 by its kidney-specific kinase-defective isoform. 25
16204408 2006
48
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. 25
15998707 2005
49
WNK1 activates SGK1 to regulate the epithelial sodium channel. 25
16006511 2005
50
Paracellular Cl- permeability is regulated by WNK4 kinase: insight into normal physiology and hypertension. 25
15465913 2004

Variations for Pseudohypoaldosteronism, Type Iie

ClinVar genetic disease variations for Pseudohypoaldosteronism, Type Iie:

6 (show top 50) (show all 1131)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNK1 NM_213655.4(WNK1):c.759+12272_760-5774del Deletion Pathogenic 5161 GRCh37: 12:875762-917034
GRCh38: 12:766596-807868
2 WNK1 nsv513769 Deletion Pathogenic 5162 GRCh37: 12:885724-907501
GRCh38: 12:776558-798335
3 CUL3 NM_003590.5(CUL3):c.1207-26A>G SNV Pathogenic 100517 rs199469650 GRCh37: 2:225368565-225368565
GRCh38: 2:224503848-224503848
4 CUL3 NM_003590.5(CUL3):c.1207-28T>G SNV Pathogenic 100518 rs199469649 GRCh37: 2:225368567-225368567
GRCh38: 2:224503850-224503850
5 CUL3 NM_003590.5(CUL3):c.1207-12T>G SNV Pathogenic 100515 rs199469651 GRCh37: 2:225368551-225368551
GRCh38: 2:224503834-224503834
6 CUL3 NM_003590.5(CUL3):c.1207-5T>A SNV Pathogenic 100520 rs199469652 GRCh37: 2:225368544-225368544
GRCh38: 2:224503827-224503827
7 CUL3 NM_003590.5(CUL3):c.1207-3C>T SNV Pathogenic 100519 rs199469653 GRCh37: 2:225368542-225368542
GRCh38: 2:224503825-224503825
8 CUL3 NM_003590.5(CUL3):c.1207-1G>A SNV Pathogenic 100516 rs199469654 GRCh37: 2:225368540-225368540
GRCh38: 2:224503823-224503823
9 CUL3 NM_003590.5(CUL3):c.1238A>G (p.Asp413Gly) SNV Pathogenic 30323 rs199469656 GRCh37: 2:225368508-225368508
GRCh38: 2:224503791-224503791
10 KLHL3 KLHL3, TRP470TER SNV Pathogenic 30515 GRCh37:
GRCh38:
11 KLHL3 NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys) SNV Pathogenic 30516 rs199469639 GRCh37: 5:136975605-136975605
GRCh38: 5:137639916-137639916
12 KLHL3 NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu) SNV Pathogenic 30517 rs199469641 GRCh37: 5:136973075-136973075
GRCh38: 5:137637386-137637386
13 KLHL3 NM_017415.3(KLHL3):c.1583G>A (p.Arg528His) SNV Pathogenic 30518 rs199469636 GRCh37: 5:136963994-136963994
GRCh38: 5:137628305-137628305
14 KLHL3 NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter) SNV Pathogenic 30519 rs199469638 GRCh37: 5:136997639-136997639
GRCh38: 5:137661950-137661950
15 KLHL3 NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile) SNV Pathogenic 30520 rs199469640 GRCh37: 5:136975563-136975563
GRCh38: 5:137639874-137639874
16 KLHL3 NM_017415.3(KLHL3):c.1670A>G (p.Tyr557Cys) SNV Pathogenic 30521 rs199469645 GRCh37: 5:136961507-136961507
GRCh38: 5:137625818-137625818
17 KLHL3 NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys) SNV Pathogenic 30522 rs199469635 GRCh37: 5:136963995-136963995
GRCh38: 5:137628306-137628306
18 KLHL3 NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn) SNV Pathogenic 30523 rs199469632 GRCh37: 5:136973006-136973006
GRCh38: 5:137637317-137637317
19 KLHL3 NM_017415.3(KLHL3):c.1193C>T (p.Ala398Val) SNV Pathogenic 31544 rs387907155 GRCh37: 5:136974668-136974668
GRCh38: 5:137638979-137638979
20 KLHL3 NM_017415.3(KLHL3):c.1587C>A (p.Asn529Lys) SNV Pathogenic 31545 rs562736621 GRCh37: 5:136963990-136963990
GRCh38: 5:137628301-137628301
21 KLHL3 NM_017415.3(KLHL3):c.1277C>T (p.Pro426Leu) SNV Pathogenic 31546 rs387907156 GRCh37: 5:136973027-136973027
GRCh38: 5:137637338-137637338
22 PIEZO2 NM_022068.3(PIEZO2):c.8238_8245del (p.Trp2746_Glu2749delinsTer) Deletion Pathogenic 137628 rs724159993 GRCh37: 18:10671538-10671545
GRCh38: 18:10671541-10671548
23 CUL3 NM_003590.5(CUL3):c.1207-12T>G SNV Pathogenic 100515 rs199469651 GRCh37: 2:225368551-225368551
GRCh38: 2:224503834-224503834
24 CUL3 NM_003590.5(CUL3):c.1207-1G>A SNV Pathogenic 100516 rs199469654 GRCh37: 2:225368540-225368540
GRCh38: 2:224503823-224503823
25 CUL3 NM_003590.5(CUL3):c.1207-26A>G SNV Pathogenic 100517 rs199469650 GRCh37: 2:225368565-225368565
GRCh38: 2:224503848-224503848
26 CUL3 NM_003590.5(CUL3):c.1207-28T>G SNV Pathogenic 100518 rs199469649 GRCh37: 2:225368567-225368567
GRCh38: 2:224503850-224503850
27 CUL3 NM_003590.5(CUL3):c.1207-3C>T SNV Pathogenic 100519 rs199469653 GRCh37: 2:225368542-225368542
GRCh38: 2:224503825-224503825
28 CUL3 NM_003590.5(CUL3):c.1207-5T>A SNV Pathogenic 100520 rs199469652 GRCh37: 2:225368544-225368544
GRCh38: 2:224503827-224503827
29 CUL3 NM_003590.5(CUL3):c.1236G>A (p.Leu412=) SNV Pathogenic 100521 rs199469655 GRCh37: 2:225368510-225368510
GRCh38: 2:224503793-224503793
30 CUL3 NM_003590.5(CUL3):c.1238A>G (p.Asp413Gly) SNV Pathogenic 30323 rs199469656 GRCh37: 2:225368508-225368508
GRCh38: 2:224503791-224503791
31 CUL3 NM_003590.5(CUL3):c.1376A>G (p.Lys459Arg) SNV Pathogenic 100522 rs199469658 GRCh37: 2:225368370-225368370
GRCh38: 2:224503653-224503653
32 CUL3 NM_003590.5(CUL3):c.1376_1377+4del Deletion Pathogenic 100523 rs199469657 GRCh37: 2:225368365-225368370
GRCh38: 2:224503648-224503653
33 CUL3 NM_003590.4(CUL3):c.1376_1377insG (p.Thr460Aspfs) Duplication Pathogenic 100524 rs199469659 GRCh37: 2:225368367-225368368
GRCh38: 2:224503650-224503651
34 CUL3 NM_003590.5(CUL3):c.1377+1G>C SNV Pathogenic 100525 rs199469660 GRCh37: 2:225368368-225368368
GRCh38: 2:224503651-224503651
35 CUL3 NM_003590.5(CUL3):c.1377+3A>G SNV Pathogenic 100526 rs199469661 GRCh37: 2:225368366-225368366
GRCh38: 2:224503649-224503649
36 KLHL3 NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter) SNV Pathogenic 100527 rs199469644 GRCh37: 5:136969766-136969766
GRCh38: 5:137634077-137634077
37 KLHL3 NM_017415.3(KLHL3):c.721del (p.Leu241fs) Deletion Pathogenic 100528 rs199469647 GRCh37: 5:136997636-136997636
GRCh38: 5:137661947-137661947
38 KLHL3 NM_017415.3(KLHL3):c.753+1G>A SNV Pathogenic 100529 rs199469648 GRCh37: 5:136997603-136997603
GRCh38: 5:137661914-137661914
39 KLHL3 NM_017415.3(KLHL3):c.1019C>T (p.Ala340Val) SNV Pathogenic 100530 rs199469628 GRCh37: 5:136975551-136975551
GRCh38: 5:137639862-137639862
40 KLHL3 NM_017415.3(KLHL3):c.1480G>A (p.Ala494Thr) SNV Pathogenic 100531 rs199469633 GRCh37: 5:136964097-136964097
GRCh38: 5:137628408-137628408
41 KLHL3 NM_017415.3(KLHL3):c.230C>A (p.Ala77Glu) SNV Pathogenic 100532 rs199469623 GRCh37: 5:137045450-137045450
GRCh38: 5:137709761-137709761
42 KLHL3 NM_017415.3(KLHL3):c.491G>T (p.Cys164Phe) SNV Pathogenic 100533 rs199469626 GRCh37: 5:137028009-137028009
GRCh38: 5:137692320-137692320
43 KLHL3 NM_017415.3(KLHL3):c.254A>C (p.Glu85Ala) SNV Pathogenic 100534 rs199469625 GRCh37: 5:137034085-137034085
GRCh38: 5:137698396-137698396
44 KLHL3 NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys) SNV Pathogenic 30516 rs199469639 GRCh37: 5:136975605-136975605
GRCh38: 5:137639916-137639916
45 KLHL3 NM_017415.3(KLHL3):c.1160T>C (p.Leu387Pro) SNV Pathogenic 100536 rs199469630 GRCh37: 5:136974701-136974701
GRCh38: 5:137639012-137639012
46 KLHL3 NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr) SNV Pathogenic 100537 rs199469642 GRCh37: 5:136973024-136973024
GRCh38: 5:137637335-137637335
47 KLHL3 NM_017415.3(KLHL3):c.232A>G (p.Met78Val) SNV Pathogenic 100538 rs199469624 GRCh37: 5:137045448-137045448
GRCh38: 5:137709759-137709759
48 KLHL3 NM_017415.3(KLHL3):c.1501C>A (p.Pro501Thr) SNV Pathogenic 100539 rs199469634 GRCh37: 5:136964076-136964076
GRCh38: 5:137628387-137628387
49 KLHL3 NM_017415.3(KLHL3):c.430C>T (p.Gln144Ter) SNV Pathogenic 100540 rs199469637 GRCh37: 5:137028070-137028070
GRCh38: 5:137692381-137692381
50 KLHL3 NM_017415.3(KLHL3):c.926A>G (p.Gln309Arg) SNV Pathogenic 100541 rs199469627 GRCh37: 5:136975644-136975644
GRCh38: 5:137639955-137639955

UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism, Type Iie:

72
# Symbol AA change Variation ID SNP ID
1 CUL3 p.Asp413Gly VAR_067532 rs199469656
2 CUL3 p.Lys459Arg VAR_067533 rs199469658

Expression for Pseudohypoaldosteronism, Type Iie

Search GEO for disease gene expression data for Pseudohypoaldosteronism, Type Iie.

Pathways for Pseudohypoaldosteronism, Type Iie

Pathways related to Pseudohypoaldosteronism, Type Iie according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.92 WNK4 WNK1
2 10.09 WNK4 WNK1

GO Terms for Pseudohypoaldosteronism, Type Iie

Cellular components related to Pseudohypoaldosteronism, Type Iie according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Cul3-RING ubiquitin ligase complex GO:0031463 8.62 KLHL3 CUL3

Biological processes related to Pseudohypoaldosteronism, Type Iie according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.63 WNK4 WNK1 PIEZO2
2 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.43 WNK4 WNK1
3 positive regulation of potassium ion import GO:1903288 9.4 WNK4 WNK1
4 negative regulation of sodium ion transport GO:0010766 9.37 WNK4 WNK1
5 renal sodium ion absorption GO:0070294 9.32 WNK4 KLHL3
6 negative regulation of pancreatic juice secretion GO:0090188 9.26 WNK4 WNK1
7 distal tubule morphogenesis GO:0072156 9.16 WNK4 KLHL3
8 regulation of cellular process GO:0050794 8.96 WNK4 WNK1
9 ion homeostasis GO:0050801 8.8 WNK4 WNK1 KLHL3

Molecular functions related to Pseudohypoaldosteronism, Type Iie according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel inhibitor activity GO:0019869 8.96 WNK4 WNK1
2 potassium channel inhibitor activity GO:0019870 8.62 WNK4 WNK1

Sources for Pseudohypoaldosteronism, Type Iie

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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