DA3
MCID: PSD020
MIFTS: 61

Pseudohypoaldosteronism Type Ii (DA3) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases categories
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Summaries for Pseudohypoaldosteronism Type Ii

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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

MalaCards based summary: Pseudohypoaldosteronism Type Ii, also known as pseudohypoaldosteronism type 2, is related to hypertension and pseudohypoaldosteronism, and has symptoms including camptodactyly of fingers, talipes-varus/metatarsal varus and autosomal dominant inheritance. 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 hc 067047 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:21 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.

Descriptions from OMIM:46 114300,614496

GeneReviews summary for pha2

Aliases & Classifications for Pseudohypoaldosteronism Type Ii

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Sources:
19GeneReviews, 21Genetics Home Reference, 62UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Pseudohypoaldosteronism Type Ii, Aliases & Descriptions:

Name: Pseudohypoaldosteronism Type Ii 19 21 62
Pseudohypoaldosteronism Type 2 19 42 20 22 21
Gordon Hyperkalemia-Hypertension Syndrome 42 21 62
Gordon Syndrome 42 44 48
Distal Arthrogryposis Type 3 42 48
Pha2e 48 62
Pha2 19 42
Arthrogryposis Multiplex Congenita, Distal, Type Iia 62
Arthrogryposis Multiplex Congenita Distal Type 2a 42
Hyperpotassemia and Hypertension, Familial 62
Camptodactyly, Cleft Palate, and Clubfoot 42
Hyperpotassemia and Hypertension Familial 42
Familial Hyperpotassemia and Hypertension 21
Camptodactyly - Cleft Palate- Clubfoot 48
 
Familial Hypertensive Hyperkalemia 21
Familial Hyperkalemiahypertension 19
Pseudohypoaldosteronism, Type Iie 46
Pseudohypoaldosteronism, Type Ii 62
Pseudohypoaldosteronism Type 2e 48
Arthrogryposis, Distal, Type 3 46
Distal Arthrogryposis Type Iia 48
Distal Arthrogryposis Syndrome 62
Arthrogryposis Distal Type 3 42
Chloride Shunt Syndrome 42
Gordon’s Syndrome 19
Phaii 19
Da3 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
gordon syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal
pha2e:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


External Ids:

MESH via Orphanet35 C537288
ICD10 via Orphanet26 Q68.8, I15.1

Related Diseases for Pseudohypoaldosteronism Type Ii

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Diseases in the Pseudohypoaldosteronism Type Ii family:

Pseudohypoaldosteronism 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
2pseudohypoaldosteronism30.4SLC12A3, KLHL3, WNK4, WNK1, REN, SCNN1A
3pseudohypoaldosteronism type iib10.3
4bartter disease10.3KCNJ1
5distal arthrogryposis10.3
6hypervitaminosis d10.2TRPV5, TRPV6
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 210.2REN, KCNJ1
16stroke, ischemic10.1SLC12A3, REN
17liddle syndrome10.1REN, SCNN1A
18bartter syndrome type 310.1SLC12A3, REN, KCNJ1
19pseudohypoaldosteronism type iid10.1
20aase-smith syndrome10.1
21arthrogryposis multiplex congenita distal type 110.1
22dominant cleft palate10.1
23marden-walker syndrome10.1
24hyperaldosteronism10.1SLC12A3, REN, KCNJ1
25hypokalemia10.1KCNJ1, REN, SLC12A3
26gitelman syndrome10.0KCNJ1, REN, WNK1, SLC12A3
27primary hyperoxaluria9.8SLC12A3, REN, KCNJ1
28essential hypertension9.8REN, WNK1, WNK4, SLC12A3, 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:

114300

Clinical features from OMIM:

114300,614496

Symptoms:

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 47)
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 autosomal dominant inheritance HP:0000006
44 hypertension HP:0000822
45 metabolic acidosis HP:0001942
46 hyperkalemia HP:0002153
47 hyperchloremia HP:0011423

Drugs & Therapeutics for Pseudohypoaldosteronism Type Ii

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Drug clinical trials:

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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 Ii20 WNK4
2 Pseudohypoaldosteronism Type Iie20 CUL3
3 Pseudohypoaldosteronism Type 2e22
4 Pseudohypoaldosteronism, Type 222

Anatomical Context for Pseudohypoaldosteronism Type Ii

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MalaCards organs/tissues related to Pseudohypoaldosteronism Type Ii:

32
Kidney, Testes, Bone

Animal Models for Pseudohypoaldosteronism Type Ii or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoaldosteronism Type Ii:

36
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)
idTitleAuthorsYear
1
Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Questions. (24396028)
2014
2
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. (23689903)
2013
3
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). (23336180)
2013
4
A molecular update on pseudohypoaldosteronism type II. (24107425)
2013
5
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. (23902721)
2013
6
Phenotypes of pseudohypoaldosteronism type II caused by the WNK4 D561A missense mutation are dependent on the WNK-OSR1/SPAK kinase cascade. (21486947)
2011
7
Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism type II. (21196779)
2011
8
Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice. (20181799)
2010
9
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. (19016006)
2008
10
Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model. (17488636)
2007
11
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D&gt;H) in the acidic motif of the WNK4 gene. (15998707)
2005
12
Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. (12107233)
2002
13
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. (10869238)
2000
14
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. (9171836)
1997
15
Furosemide and dDAVP for the treatment of pseudohypoaldosteronism type II. (9492109)
1997
16
Pseudohypoaldosteronism Type II (22073419)
1993
17
Syndrome of hypertension and hyperkalemia with normal GFR (Gordon's syndrome: pseudohypoaldosteronism type II). (8143511)
1993
18
Pseudohypoaldosteronism type II: proximal renal tubular acidosis and dDAVP-sensitive renal hyperkalemia. (3777034)
1986

Variations for Pseudohypoaldosteronism Type Ii

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

64
id Symbol AA change Variation ID SNP ID
1CUL3p.Asp413GlyVAR_067532
2CUL3p.Lys459ArgVAR_067533
3PIEZO2p.Arg2686HisVAR_071303

Clinvar genetic disease variations for Pseudohypoaldosteronism Type Ii:

6 (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
19.9WNK1, WNK4
29.6KCNJ1, SCNN1A
3
Show member pathways
9.4TRPC5, SCNN1A
49.0TRPC5, TRPV6, TRPV5
59.0TRPC5, TRPV5, TRPV6
68.6WNK4, SCNN1A, WNK1, KCNJ1, SLC12A3
7
Show member pathways
7.9TRPV6, WNK4, TRPV5, SCNN1A, TRPC5, WNK1
8
Show member pathways
7.5SCNN1A, WNK4, SLC12A3, TRPV6, TRPV5, TRPC5

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 9810619.9TRPV5, TRPV6
2hc 067047619.9TRPV5, TRPV6
35-iodoresiniferatoxin61 2810.9TRPV5, TRPV6
4bendroflumethiazide44 1110.9SLC12A3, REN
5ruthenium red289.8TRPV6, TRPV5
6capsazepine61 44 2811.8TRPV5, TRPV6
7mg2+289.8TRPV5, TRPV6
8chlorine44 2410.7SLC12A3, WNK4, WNK1
9diazoxide44 61 28 1112.7SLC12A3, KCNJ1
10la3+289.5TRPV6, TRPC5
11anandamide61 44 28 2412.5TRPV5, TRPV6
12amiloride44 28 1111.5SCNN1A, REN
132-apb28 6110.5TRPV6, TRPC5
14furosemide44 61 28 50 24 1114.3REN, SLC12A3
15magnesium44 24 1111.2TRPV5, WNK1, KCNJ1, WNK4
16hydrochlorothiazide44 28 50 24 1113.2KCNJ1, SLC12A3, REN, WNK1
17lysine449.1SLC12A3, CUL3, KCNJ1, WNK4, WNK1
18chloride448.9REN, WNK1, WNK4, KCNJ1, SLC12A3
19potassium44 24 1110.9KCNJ1, REN, WNK1, SLC12A3, WNK4
20thiazide448.9WNK4, SCNN1A, SLC12A3, WNK1, REN
21nacl448.4WNK1, REN, SCNN1A, KCNJ1, SLC12A3, WNK4
22sodium44 249.4SLC12A3, REN, SCNN1A, KCNJ1, WNK1, WNK4
23calcium44 50 24 1110.8SLC12A3, WNK1, TRPC5, TRPV5, TRPV6, 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:0314639.8KLHL3, CUL3
2apical plasma membraneGO:0163249.3SLC12A3, SCNN1A, TRPV5
3integral component of plasma membraneGO:0058878.2TRPV5, SCNN1A, SLC12A3, TRPV6, TRPC5
4plasma membraneGO:0058866.9KCNJ1, TRPV5, TRPC5, TRPV6, SLC12A3, REN

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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  • Antibodies
  • Proteins
  • Lysates

Sources for Pseudohypoaldosteronism Type Ii

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet