PHA2
MCID: PSD054
MIFTS: 41

Pseudohypoaldosteronism Type Iib (PHA2) malady

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

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MalaCards based summary: Pseudohypoaldosteronism Type Iib, also known as pseudohypoaldosteronism type 2, is related to pseudohypoaldosteronism and hypertension, and has symptoms including chronic arterial hypertension, hyperkalemia and autosomal dominant inheritance. An important gene associated with Pseudohypoaldosteronism Type Iib is WNK4 (WNK lysine deficient protein kinase 4), and among its related pathways are Ion channel transport and PI3K / Akt Signaling. The compounds thiazide and chlorine have been mentioned in the context of this disorder.

Descriptions from OMIM:46 145260,614491,614492,614495,614496

Aliases & Classifications for Pseudohypoaldosteronism Type Iib

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Sources:
48Orphanet, 46OMIM, 62UMLS, 20GeneTests, 22GTR, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Pseudohypoaldosteronism Type Iib, Aliases & Descriptions:

Name: Pseudohypoaldosteronism Type Iib 20 22
Pseudohypoaldosteronism Type 2 48 46 62
Gordon Hyperkalemia-Hypertension Syndrome 48 62
Familial Hyperkalemic Hypertension 48 62
Pseudohypoaldosteronism, Type Iib 46 62
Hyperkaliemia - Hypertension, Gordon Type 48
Mineralocorticoid Resistant Hyperkalemia 48
 
Pseudohypoaldosteronism Type 2b 48
Spitzer-Weinstein Syndrome 48
Hypertensive Hyperkalemia 48
Chloride Shunt Syndrome 48
Pha2b 48
Phaii 48
Pha2 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
pseudohypoaldosteronism type 2:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable; Age of death: Adult


External Ids:

ICD10 via Orphanet26 I15.1
UMLS via Orphanet63 C1449844

Related Diseases for Pseudohypoaldosteronism Type Iib

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Graphical network of diseases related to Pseudohypoaldosteronism Type Iib:



Diseases related to pseudohypoaldosteronism type iib

Symptoms for Pseudohypoaldosteronism Type Iib

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Symptoms by clinical synopsis from OMIM:

145260

Clinical features from OMIM:

145260,614491,614492,614495,614496

Symptoms:

48 (show all 10)
  • chronic arterial hypertension
  • hyperkalemia
  • autosomal dominant inheritance
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • anomalies of teeth and dentition
  • enamel anomaly
  • muscle weakness/flaccidity
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Pseudohypoaldosteronism Type Iib:

(show all 18)
id Description Frequency HPO Source Accession
1 hypertension hallmark (90%) HP:0000822
2 hyperkalemia hallmark (90%) HP:0002153
3 flexion contracture typical (50%) HP:0001371
4 nausea and vomiting typical (50%) HP:0002017
5 abnormality of dental enamel occasional (7.5%) HP:0000682
6 muscle weakness occasional (7.5%) HP:0001324
7 short stature occasional (7.5%) HP:0004322
8 autosomal dominant inheritance HP:0000006
9 hypertension HP:0000822
10 hyperchloremic acidosis HP:0001995
11 hyperkalemia HP:0002153
12 periodic hyperkalemic paralysis HP:0007215
13 pseudohypoaldosteronism HP:0008242
14 autosomal dominant inheritance HP:0000006
15 hypertension HP:0000822
16 hyperkalemia HP:0002153
17 hyperchloremic metabolic acidosis HP:0004918
18 hyperchloremia HP:0011423

Drugs & Therapeutics for Pseudohypoaldosteronism Type Iib

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Drug clinical trials:

Search ClinicalTrials for Pseudohypoaldosteronism Type Iib

Search NIH Clinical Center for Pseudohypoaldosteronism Type Iib

Genetic Tests for Pseudohypoaldosteronism Type Iib

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Genetic tests related to Pseudohypoaldosteronism Type Iib:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type Iib20 WNK4
2 Pseudohypoaldosteronism Type 2b22

Anatomical Context for Pseudohypoaldosteronism Type Iib

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Animal Models for Pseudohypoaldosteronism Type Iib or affiliated genes

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Publications for Pseudohypoaldosteronism Type Iib

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Variations for Pseudohypoaldosteronism Type Iib

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

64
id Symbol AA change Variation ID SNP ID
1WNK4p.Glu562LysVAR_017588
2WNK4p.Asp564AlaVAR_017589
3WNK4p.Gln565GluVAR_017590
4WNK4p.Arg1185CysVAR_017591

Clinvar genetic disease variations for Pseudohypoaldosteronism Type Iib:

6 (show all 55)
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
31CUL3CUL3, IVS8, A-G, -26single nucleotide variantPathogenic
32CUL3CUL3, IVS8, T-G, -28single nucleotide variantPathogenic
33CUL3CUL3, IVS8, T-G, -12single nucleotide variantPathogenic
34CUL3CUL3, IVS8, T-A, -5single nucleotide variantPathogenic
35CUL3CUL3, IVS8, C-T, -3single nucleotide variantPathogenic
36CUL3CUL3, IVS8, G-A, -1single nucleotide variantPathogenic
37CUL3NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly)single nucleotide variantPathogenicrs199469656GRCh37Chr 2, 225368508: 225368508
38KLHL3KLHL3, TRP470TERsingle nucleotide variantPathogenic
39KLHL3NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys)single nucleotide variantPathogenicrs199469639GRCh37Chr 5, 136975605: 136975605
40KLHL3NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu)single nucleotide variantPathogenicrs199469641GRCh37Chr 5, 136973075: 136973075
41KLHL3NM_017415.2(KLHL3): c.1583G> A (p.Arg528His)single nucleotide variantPathogenicrs199469636GRCh37Chr 5, 136963994: 136963994
42KLHL3NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs199469638GRCh37Chr 5, 136997639: 136997639
43KLHL3NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile)single nucleotide variantPathogenicrs199469640GRCh37Chr 5, 136975563: 136975563
44KLHL3NM_017415.2(KLHL3): c.1670A> G (p.Tyr557Cys)single nucleotide variantPathogenicrs199469645GRCh37Chr 5, 136961507: 136961507
45KLHL3NM_017415.2(KLHL3): c.1582C> T (p.Arg528Cys)single nucleotide variantPathogenicrs199469635GRCh37Chr 5, 136963995: 136963995
46KLHL3NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn)single nucleotide variantPathogenicrs199469632GRCh37Chr 5, 136973006: 136973006
47KLHL3NM_017415.2(KLHL3): c.1193C> T (p.Ala398Val)single nucleotide variantPathogenicrs387907155GRCh37Chr 5, 136974668: 136974668
48KLHL3KLHL3, ASN529LYSsingle nucleotide variantPathogenic
49KLHL3NM_017415.2(KLHL3): c.1277C> T (p.Pro426Leu)single nucleotide variantPathogenicrs387907156GRCh37Chr 5, 136973027: 136973027
50WNK1NG_007984.2: g.18538_59810deldeletionPathogenicGRCh37Chr 12, 875762: 917034
51WNK1NC_000012.12: g.776558_798335del21778deletionPathogenicGRCh37Chr 12, 885724: 907501
52WNK4NM_032387.4(WNK4): c.1693C> G (p.Gln565Glu)single nucleotide variantPathogenicrs137853092GRCh37Chr 17, 40939512: 40939512
53WNK4NM_032387.4(WNK4): c.1684G> A (p.Glu562Lys)single nucleotide variantPathogenicrs137853093GRCh37Chr 17, 40939503: 40939503
54WNK4NM_032387.4(WNK4): c.1691A> C (p.Asp564Ala)single nucleotide variantPathogenicrs137853094GRCh37Chr 17, 40939510: 40939510
55WNK4NM_032387.4(WNK4): c.3553C> T (p.Arg1185Cys)single nucleotide variantPathogenicrs137853095GRCh37Chr 17, 40948262: 40948262

Expression for genes affiliated with Pseudohypoaldosteronism Type Iib

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

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Pathways for genes affiliated with Pseudohypoaldosteronism Type Iib

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1WNK4, WNK1
29.1WNK4, WNK1
39.1WNK4, WNK1

Compounds for genes affiliated with Pseudohypoaldosteronism Type Iib

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1thiazide449.3WNK4, WNK1
2chlorine44 2410.2WNK4, WNK1
3nacl449.2WNK1, WNK4
4chloride449.1WNK4, WNK1
5sodium44 2410.1WNK4, WNK1
6potassium44 24 1111.0WNK4, WNK1
7proline448.8WNK4, WNK1
8lysine448.8WNK4, WNK1, CUL3

GO Terms for genes affiliated with Pseudohypoaldosteronism Type Iib

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

idNameGO IDScoreTop Affiliating Genes
1Cul3-RING ubiquitin ligase complexGO:0314639.3KLHL3, CUL3

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1distal tubule morphogenesisGO:0721569.5KLHL3, WNK4
2renal sodium ion absorptionGO:0702949.4WNK4, KLHL3
3ion homeostasisGO:0508019.4WNK4, KLHL3
4regulation of cellular processGO:0507949.3WNK4, WNK1
5negative regulation of pancreatic juice secretionGO:0901889.3WNK4, WNK1
6protein ubiquitinationGO:0165679.2CUL3, KLHL3
7ion transportGO:0068119.1WNK4, WNK1
8protein phosphorylationGO:0064689.1WNK4, WNK1
9intracellular signal transductionGO:0355568.8WNK4, WNK1

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel inhibitor activityGO:0198699.0WNK4, WNK1
2protein serine/threonine kinase activityGO:0046748.8WNK4, WNK1
3protein bindingGO:0055158.0KLHL3, WNK4, WNK1, CUL3

Products for genes affiliated with Pseudohypoaldosteronism Type Iib

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  • Antibodies
  • Proteins
  • Lysates

Sources for Pseudohypoaldosteronism Type Iib

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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