Pseudohypoaldosteronism Type Ii (DA3) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases categories

Summaries for Pseudohypoaldosteronism Type Ii

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OMIM:46 DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate (summary... (114300) more...

MalaCards based summary: Pseudohypoaldosteronism Type Ii, also known as pseudohypoaldosteronism type 2, is related to hypertension and pseudohypoaldosteronism, and has symptoms including talipes, camptodactyly of finger and amyotrophy. An important gene associated with Pseudohypoaldosteronism Type Ii is CUL3 (cullin 3), and among its related pathways are PI3K / Akt Signaling and Aldosterone-regulated sodium reabsorption. The compounds amg 9810 and 5-iodoresiniferatoxin have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone, and related mouse phenotypes are behavior/neurological and growth/size/body.

Genetics Home Reference:22 Pseudohypoaldosteronism type 2 (PHA2) is a condition characterized by problems regulating 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.

NIH Rare Diseases:42 Gordon syndrome is a rare, inherited type of distal arthrogryposis typically characterized by a combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot (abnormal bending inward of the foot), and less frequently, cleft palate. intelligence is usually normal. in some cases, additional abnormalities such as scoliosis or undescended testicles in males may be present. the range and severity of symptoms may vary from case to case. gordon syndrome is thought to be inherited in an autosomal dominant or x-linked dominant manner. the exact cause remains unknown. last updated: 12/5/2012

Description from OMIM:46 614496

GeneReviews summary for pha2

Aliases & Classifications for Pseudohypoaldosteronism Type Ii

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20GeneReviews, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet
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Pseudohypoaldosteronism Type Ii, Aliases & Descriptions:

Name: Pseudohypoaldosteronism Type Ii 20 22 61
Pseudohypoaldosteronism Type 2 20 42 21 23 22
Gordon Hyperkalemia-Hypertension Syndrome 42 22 61
Gordon Syndrome 42 44 48
Distal Arthrogryposis Type 3 42 48
Pha2e 48 61
Pha2 20 42
Arthrogryposis Multiplex Congenita, Distal, Type Iia 61
Arthrogryposis Multiplex Congenita Distal Type 2a 42
Hyperpotassemia and Hypertension, Familial 61
Camptodactyly, Cleft Palate, and Clubfoot 42
Hyperpotassemia and Hypertension Familial 42
Familial Hyperpotassemia and Hypertension 22
Camptodactyly - Cleft Palate- Clubfoot 48
Familial Hypertensive Hyperkalemia 22
Familial Hyperkalemiahypertension 20
Pseudohypoaldosteronism, Type Iie 46
Pseudohypoaldosteronism, Type Ii 61
Pseudohypoaldosteronism Type 2e 48
Arthrogryposis, Distal, Type 3 46
Distal Arthrogryposis Type Iia 48
Distal Arthrogryposis Syndrome 61
Arthrogryposis Distal Type 3 42
Chloride Shunt Syndrome 42
Gordon’s Syndrome 20
Phaii 20
Da3 42


Characteristics (Orphanet epidemiological data):

gordon syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal
Inheritance: Autosomal dominant; Prevalence: <1/1000000

External Ids:

MESH via Orphanet35 C537288
ICD10 via Orphanet27 Q68.8, I15.1

Related Diseases for Pseudohypoaldosteronism Type Ii

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Diseases in the Pseudohypoaldosteronism Type Ii family:

Pseudohypoaldosteronism Autosomal Dominant Pseudohypoaldosteronism Type 1
Autosomal Recessive Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism Type Iib
Pseudohypoaldosteronism Type Iic Pseudohypoaldosteronism Type Iid
Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism, Type Iia
Transient Pseudohypoaldosteronism

Diseases related to Pseudohypoaldosteronism Type Ii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension30.5SCNN1A, REN, WNK1, WNK4, SLC12A3
2pseudohypoaldosteronism30.4KCNJ1, SCNN1A, REN, WNK1, WNK4, KLHL3
3pseudohypoaldosteronism type iib10.3
4distal arthrogryposis10.3
5bartter disease10.3KCNJ1
6hypervitaminosis d10.2TRPV6, TRPV5
7autonomic neuropathy10.2REN
8cleft palate10.2
9distal arthrogryposis type 510.2
10keratoderma palmoplantar spastic paralysis10.2
11metabolic acidosis10.2REN, WNK4
12renal tubular acidosis10.2
13familial hypertension10.2
14hyperkalemic periodic paralysis10.2
15bartter syndrome, type 210.2KCNJ1, REN
16stroke, ischemic10.1SLC12A3, REN
17liddle syndrome10.1SCNN1A, REN
18bartter syndrome type 310.1KCNJ1, SLC12A3, REN
19pseudohypoaldosteronism type iid10.1
20aase-smith syndrome10.1
21arthrogryposis multiplex congenita distal type 110.1
22dominant cleft palate10.1
23marden-walker syndrome10.1
24hyperaldosteronism10.1REN, SLC12A3, KCNJ1
25hypokalemia10.1KCNJ1, REN, SLC12A3
26gitelman syndrome10.0REN, KCNJ1, WNK1, SLC12A3
27primary hyperoxaluria9.8KCNJ1, REN, SLC12A3
28essential hypertension9.8SLC12A3, REN, WNK1, WNK4, TRPC5

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

Diseases related to pseudohypoaldosteronism type ii

Symptoms for Pseudohypoaldosteronism Type Ii

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (show all 15)
  • camptodactyly of fingers
  • talipes-varus/metatarsal varus
  • autosomal dominant inheritance
  • high vaulted/narrow palate
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hearing loss/hypoacusia/deafness
  • pectus excavatum
  • scoliosis
  • syndactyly of fingers/interdigital palm
  • clinodactyly of fifth finger
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism

HPO human phenotypes related to Pseudohypoaldosteronism Type Ii:

(show all 46)
id Description Frequency HPO Source Accession
1 talipes hallmark (90%) HP:0001883
2 camptodactyly of finger hallmark (90%) HP:0100490
3 amyotrophy typical (50%) HP:0003202
4 cryptorchidism occasional (7.5%) HP:0000028
5 cleft palate occasional (7.5%) HP:0000175
6 facial asymmetry occasional (7.5%) HP:0000324
7 hearing impairment occasional (7.5%) HP:0000365
8 pectus excavatum occasional (7.5%) HP:0000767
9 limitation of joint mobility occasional (7.5%) HP:0001376
10 scoliosis occasional (7.5%) HP:0002650
11 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
12 short stature occasional (7.5%) HP:0004322
13 finger syndactyly occasional (7.5%) HP:0006101
14 ophthalmoplegia rare (5%) HP:0000602
15 autosomal dominant inheritance HP:0000006
16 cryptorchidism HP:0000028
17 submucous cleft hard palate HP:0000176
18 bifid uvula HP:0000193
19 high palate HP:0000218
20 epicanthus HP:0000286
21 facial asymmetry HP:0000324
22 micrognathia HP:0000347
23 short neck HP:0000470
24 ptosis HP:0000508
25 pectus excavatum HP:0000767
26 single transverse palmar crease HP:0000954
27 ulnar deviation of the hand or of fingers of the hand HP:0001193
28 congenital hip dislocation HP:0001374
29 abnormality of the rib cage HP:0001547
30 talipes equinovarus HP:0001762
31 camptodactyly of toe HP:0001836
32 overlapping toe HP:0001845
33 kyphoscoliosis HP:0002751
34 lumbar hyperlordosis HP:0002938
35 thoracolumbar scoliosis HP:0002944
36 decreased hip abduction HP:0003184
37 short stature HP:0004322
38 knee flexion contracture HP:0006380
39 short phalanx of finger HP:0009803
40 cutaneous finger syndactyly HP:0010554
41 camptodactyly of finger HP:0100490
42 down-sloping shoulders HP:0200021
43 hypertension HP:0000822
44 metabolic acidosis HP:0001942
45 hyperkalemia HP:0002153
46 hyperchloremia HP:0011423

Drugs & Therapeutics for Pseudohypoaldosteronism Type Ii

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Drug clinical trials:

Search ClinicalTrials for Pseudohypoaldosteronism Type Ii

Search NIH Clinical Center for Pseudohypoaldosteronism Type Ii

Genetic Tests for Pseudohypoaldosteronism Type Ii

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Genetic tests related to Pseudohypoaldosteronism Type Ii:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type Ii21 WNK4
2 Pseudohypoaldosteronism Type Iie21 CUL3
3 Pseudohypoaldosteronism Type 2e23
4 Pseudohypoaldosteronism, Type 223

Anatomical Context for Pseudohypoaldosteronism Type Ii

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MalaCards organs/tissues related to Pseudohypoaldosteronism Type Ii:

Kidney, Testes, Bone

Animal Models for Pseudohypoaldosteronism Type Ii or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoaldosteronism Type Ii:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.6TRPC5, TRPV5, TRPV6, REN, SCNN1A, KCNJ1
2MP:00053787.3KCNJ1, SCNN1A, CUL3, REN, WNK1, TRPV6
3MP:00053677.2TRPV5, KCNJ1, SCNN1A, REN, WNK1, WNK4
4MP:00053766.5KCNJ1, SCNN1A, REN, WNK1, WNK4, SLC12A3

Publications for Pseudohypoaldosteronism Type Ii

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Articles related to Pseudohypoaldosteronism Type Ii:

(show all 18)
Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Questions. (24396028)
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. (23689903)
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). (23336180)
A molecular update on pseudohypoaldosteronism type II. (24107425)
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. (23902721)
Phenotypes of pseudohypoaldosteronism type II caused by the WNK4 D561A missense mutation are dependent on the WNK-OSR1/SPAK kinase cascade. (21486947)
Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism type II. (21196779)
Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice. (20181799)
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. (19016006)
Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model. (17488636)
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D&gt;H) in the acidic motif of the WNK4 gene. (15998707)
Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. (12107233)
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. (10869238)
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. (9171836)
Furosemide and dDAVP for the treatment of pseudohypoaldosteronism type II. (9492109)
Pseudohypoaldosteronism Type II (22073419)
Syndrome of hypertension and hyperkalemia with normal GFR (Gordon's syndrome: pseudohypoaldosteronism type II). (8143511)
Pseudohypoaldosteronism type II: proximal renal tubular acidosis and dDAVP-sensitive renal hyperkalemia. (3777034)

Variations for Pseudohypoaldosteronism Type Ii

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Pseudohypoaldosteronism Type Ii:

7 (show all 47)
id Gene Name Type Significance SNP ID Assembly Location
1CUL3NM_003590.4(CUL3): c.1207-12T> Gsingle nucleotide variantPathogenicrs199469651GRCh37Chr 2, 225368551: 225368551
2CUL3NM_003590.4(CUL3): c.1207-1G> Asingle nucleotide variantPathogenicrs199469654GRCh37Chr 2, 225368540: 225368540
3CUL3NM_003590.4(CUL3): c.1207-26A> Gsingle nucleotide variantPathogenicrs199469650GRCh37Chr 2, 225368565: 225368565
4CUL3NM_003590.4(CUL3): c.1207-28T> Gsingle nucleotide variantPathogenicrs199469649GRCh37Chr 2, 225368567: 225368567
5CUL3NM_003590.4(CUL3): c.1207-3C> Tsingle nucleotide variantPathogenicrs199469653GRCh37Chr 2, 225368542: 225368542
6CUL3NM_003590.4(CUL3): c.1207-5T> Asingle nucleotide variantPathogenicrs199469652GRCh37Chr 2, 225368544: 225368544
7CUL3NM_003590.4(CUL3): c.1236G> A (p.Leu412=)single nucleotide variantPathogenicrs199469655GRCh37Chr 2, 225368510: 225368510
8CUL3NM_003590.4(CUL3): c.1376A> G (p.Lys459Arg)single nucleotide variantPathogenicrs199469658GRCh37Chr 2, 225368370: 225368370
9CUL3NM_003590.4: c.1376_1377+4delAGGTAAdeletionPathogenicrs199469657GRCh37Chr 2, 225368365: 225368370
10CUL3NM_003590.4(CUL3): c.1377dupG (p.Thr460Aspfs)duplicationPathogenicrs199469659GRCh37Chr 2, 225368369: 225368370
11CUL3NM_003590.4(CUL3): c.1377+1G> Csingle nucleotide variantPathogenicrs199469660GRCh37Chr 2, 225368368: 225368368
12CUL3NM_003590.4(CUL3): c.1377+3A> Gsingle nucleotide variantPathogenicrs199469661GRCh37Chr 2, 225368366: 225368366
13KLHL3NM_017415.2(KLHL3): c.1410G> A (p.Trp470Ter)single nucleotide variantPathogenicrs199469644GRCh37Chr 5, 136969766: 136969766
14KLHL3NM_017415.2(KLHL3): c.721delC (p.Leu241Phefs)deletionPathogenicrs199469647GRCh37Chr 5, 136997636: 136997636
15KLHL3NM_017415.2(KLHL3): c.753+1G> Asingle nucleotide variantPathogenicrs199469648GRCh37Chr 5, 136997603: 136997603
16KLHL3NM_017415.2(KLHL3): c.1019C> T (p.Ala340Val)single nucleotide variantPathogenicrs199469628GRCh37Chr 5, 136975551: 136975551
17KLHL3NM_017415.2(KLHL3): c.1480G> A (p.Ala494Thr)single nucleotide variantPathogenicrs199469633GRCh37Chr 5, 136964097: 136964097
18KLHL3NM_017415.2(KLHL3): c.230C> A (p.Ala77Glu)single nucleotide variantPathogenicrs199469623GRCh37Chr 5, 137045450: 137045450
19KLHL3NM_017415.2(KLHL3): c.491G> T (p.Cys164Phe)single nucleotide variantPathogenicrs199469626GRCh37Chr 5, 137028009: 137028009
20KLHL3NM_017415.2(KLHL3): c.254A> C (p.Glu85Ala)single nucleotide variantPathogenicrs199469625GRCh37Chr 5, 137034085: 137034085
21KLHL3NM_017415.2(KLHL3): c.1160T> C (p.Leu387Pro)single nucleotide variantPathogenicrs199469630GRCh37Chr 5, 136974701: 136974701
22KLHL3NM_017415.2(KLHL3): c.1280T> C (p.Met427Thr)single nucleotide variantPathogenicrs199469642GRCh37Chr 5, 136973024: 136973024
23KLHL3NM_017415.2(KLHL3): c.232A> G (p.Met78Val)single nucleotide variantPathogenicrs199469624GRCh37Chr 5, 137045448: 137045448
24KLHL3NM_017415.2(KLHL3): c.1501C> A (p.Pro501Thr)single nucleotide variantPathogenicrs199469634GRCh37Chr 5, 136964076: 136964076
25KLHL3NM_017415.2(KLHL3): c.430C> T (p.Gln144Ter)single nucleotide variantPathogenicrs199469637GRCh37Chr 5, 137028070: 137028070
26KLHL3NM_017415.2(KLHL3): c.926A> G (p.Gln309Arg)single nucleotide variantPathogenicrs199469627GRCh37Chr 5, 136975644: 136975644
27KLHL3NM_017415.2(KLHL3): c.1151G> A (p.Arg384Gln)single nucleotide variantPathogenicrs199469629GRCh37Chr 5, 136974710: 136974710
28KLHL3NM_017415.2(KLHL3): c.1292G> A (p.Arg431Gln)single nucleotide variantPathogenicrs199469643GRCh37Chr 5, 136973012: 136973012
29KLHL3NM_017415.2(KLHL3): c.1723C> T (p.Arg575Trp)single nucleotide variantPathogenicrs199469646GRCh37Chr 5, 136961454: 136961454
30KLHL3NM_017415.2(KLHL3): c.1295G> A (p.Ser432Asn)single nucleotide variantPathogenicrs199469631GRCh37Chr 5, 136973009: 136973009
31PIEZO2PIEZO2, 8-BP DEL, NT8238deletionPathogenic
32PIEZO2NM_022068.3(PIEZO2): c.8057G> A (p.Arg2686His)single nucleotide variantPathogenicGRCh38Chr 18, 10671729: 10671729
33CUL3CUL3, IVS8, A-G, -26single nucleotide variantPathogenic
34CUL3CUL3, IVS8, T-G, -28single nucleotide variantPathogenic
35CUL3CUL3, IVS8, T-G, -12single nucleotide variantPathogenic
36CUL3CUL3, IVS8, T-A, -5single nucleotide variantPathogenic
37CUL3CUL3, IVS8, C-T, -3single nucleotide variantPathogenic
38CUL3CUL3, IVS8, G-A, -1single nucleotide variantPathogenic
39CUL3NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly)single nucleotide variantPathogenicrs199469656GRCh37Chr 2, 225368508: 225368508
40KLHL3NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys)single nucleotide variantPathogenicrs199469639GRCh37Chr 5, 136975605: 136975605
41KLHL3NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu)single nucleotide variantPathogenicrs199469641GRCh37Chr 5, 136973075: 136973075
42KLHL3NM_017415.2(KLHL3): c.1583G> A (p.Arg528His)single nucleotide variantPathogenicrs199469636GRCh37Chr 5, 136963994: 136963994
43KLHL3NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs199469638GRCh37Chr 5, 136997639: 136997639
44KLHL3NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile)single nucleotide variantPathogenicrs199469640GRCh37Chr 5, 136975563: 136975563
45KLHL3NM_017415.2(KLHL3): c.1670A> G (p.Tyr557Cys)single nucleotide variantPathogenicrs199469645GRCh37Chr 5, 136961507: 136961507
46KLHL3NM_017415.2(KLHL3): c.1582C> T (p.Arg528Cys)single nucleotide variantPathogenicrs199469635GRCh37Chr 5, 136963995: 136963995
47KLHL3NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn)single nucleotide variantPathogenicrs199469632GRCh37Chr 5, 136973006: 136973006

Expression for genes affiliated with Pseudohypoaldosteronism Type Ii

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Expression patterns in normal tissues for genes affiliated with Pseudohypoaldosteronism Type Ii

Search GEO for disease gene expression data for Pseudohypoaldosteronism Type Ii.

Pathways for genes affiliated with Pseudohypoaldosteronism Type Ii

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Pathways related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9WNK4, WNK1
Show member pathways
68.6SLC12A3, WNK4, WNK1, SCNN1A, KCNJ1
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Compounds for genes affiliated with Pseudohypoaldosteronism Type Ii

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Compounds related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1amg 9810609.9TRPV6, TRPV5
25-iodoresiniferatoxin60 2910.9TRPV6, TRPV5
3hc 067047609.9TRPV6, TRPV5
4bendroflumethiazide44 1210.9SLC12A3, REN
5capsazepine60 44 2911.8TRPV6, TRPV5
6ruthenium red299.8TRPV6, TRPV5
7mg2+299.8TRPV6, TRPV5
8chlorine44 2510.7WNK1, WNK4, SLC12A3
9diazoxide44 60 29 1212.7KCNJ1, SLC12A3
10la3+299.5TRPC5, TRPV6
11anandamide60 44 29 2512.5TRPV5, TRPV6
12amiloride44 29 1211.5REN, SCNN1A
132-apb29 6010.5TRPC5, TRPV6
14furosemide44 60 29 50 25 1214.3SLC12A3, REN
15magnesium44 25 1211.2KCNJ1, WNK1, WNK4, TRPV5
16hydrochlorothiazide44 29 50 25 1213.2KCNJ1, REN, WNK1, SLC12A3
17lysine449.1KCNJ1, CUL3, WNK1, WNK4, SLC12A3
18chloride448.9KCNJ1, REN, WNK1, WNK4, SLC12A3
19potassium44 25 1210.9KCNJ1, REN, WNK1, WNK4, SLC12A3
20thiazide448.9SLC12A3, WNK4, WNK1, REN, SCNN1A
21nacl448.4KCNJ1, SCNN1A, REN, WNK1, WNK4, SLC12A3
22sodium44 259.4KCNJ1, SCNN1A, REN, WNK1, WNK4, SLC12A3
23calcium44 50 25 1210.8TRPC5, TRPV5, TRPV6, SLC12A3, WNK1, REN

GO Terms for genes affiliated with Pseudohypoaldosteronism Type Ii

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Cellular components related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Cul3-RING ubiquitin ligase complexGO:0314639.8CUL3, KLHL3
2apical plasma membraneGO:0163249.3TRPV5, SLC12A3, SCNN1A
3integral component of plasma membraneGO:0058878.2TRPC5, TRPV5, TRPV6, SLC12A3, SCNN1A
4plasma membraneGO:0058866.9KCNJ1, SCNN1A, REN, SLC12A3, TRPV6, TRPV5

Biological processes related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1distal tubule morphogenesisGO:07215610.1KLHL3, WNK4
2regulation of cellular processGO:05079410.1WNK4, WNK1
3negative regulation of pancreatic juice secretionGO:09018810.1WNK4, WNK1
4ion homeostasisGO:05080110.1WNK4, KLHL3
5chloride transportGO:0068219.8SLC12A3, WNK4
6renal sodium ion absorptionGO:0702949.8KLHL3, WNK4, KCNJ1
7sodium ion transmembrane transportGO:0357259.6SLC12A3, SCNN1A
8ion transportGO:0068119.5WNK1, WNK4, SLC12A3
9excretionGO:0075889.5SCNN1A, KCNJ1
10sodium ion transportGO:0068149.3SLC12A3, SCNN1A
11calcium ion transmembrane transportGO:0705889.1TRPC5, TRPV5, TRPV6
12calcium ion transportGO:0068169.1TRPC5, TRPV5, TRPV6
13ion transmembrane transportGO:0342208.8SCNN1A, TRPV6, TRPV5, TRPC5
14transmembrane transportGO:0550858.4SCNN1A, SLC12A3, TRPV6, TRPV5, TRPC5

Molecular functions related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel inhibitor activityGO:0198699.6WNK4, WNK1
2calcium channel activityGO:0052628.9TRPC5, TRPV5, TRPV6
3protein bindingGO:0055157.0CUL3, WNK1, WNK4, KLHL3, SLC12A3, TRPV6

Products for genes affiliated with Pseudohypoaldosteronism Type Ii

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Sources for Pseudohypoaldosteronism Type Ii

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27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet