PHA2
MCID: PSD054
MIFTS: 30

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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47OMIM, 33MalaCards
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MalaCards: Pseudohypoaldosteronism Type Iib, also known as pseudohypoaldosteronism, type iib, is related to pseudohypoaldosteronism and hypoaldosteronism, and has symptoms including nausea/vomiting/regurgitation/merycism/hyperemesis, enamel anomaly and contractures/cramps/trismus/tetania/claudication/opisthotonos. An important gene associated with Pseudohypoaldosteronism Type Iib is WNK4 (WNK lysine deficient protein kinase 4).

Description from OMIM:47 145260,614491,614492,614495,614496

Aliases & Classifications for Pseudohypoaldosteronism Type Iib

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49Orphanet, 47OMIM, 20GeneTests, 22GTR, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
pseudohypoaldosteronism type 2:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable; Age of death: Adult


Aliases & Descriptions:

pseudohypoaldosteronism type iib 20 22
pseudohypoaldosteronism, type iib 47 62
pseudohypoaldosteronism type 2 49 47
hyperkaliemia - hypertension, gordon type 49
gordon hyperkalemia-hypertension syndrome 49
mineralocorticoid resistant hyperkalemia 49
familial hyperkalemic hypertension 49
pseudohypoaldosteronism, type ii 62
pseudohypoaldosteronism type 2b 49
spitzer-weinstein syndrome 49
hypertensive hyperkalemia 49
chloride shunt syndrome 49
phaii 49
pha2b 49
pha2 49


External Ids:

ICD10 via Orphanet26 I15.1
SNOMED-CT via Orphanet59 15689008
UMLS via Orphanet63 C1449844

Related Diseases for Pseudohypoaldosteronism Type Iib

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

145260

Clinical features from OMIM:

145260,614491,614492,614495,614496

Symptoms:

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

Drugs & Therapeutics for Pseudohypoaldosteronism Type Iib

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42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1 (show all 43)
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
31CUL3NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly)single nucleotide variantPathogenicrs199469656GRCh37Chr 2, 225368508: 225368508
32KLHL3NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys)single nucleotide variantPathogenicrs199469639GRCh37Chr 5, 136975605: 136975605
33KLHL3NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu)single nucleotide variantPathogenicrs199469641GRCh37Chr 5, 136973075: 136973075
34KLHL3NM_017415.2(KLHL3): c.1583G> A (p.Arg528His)single nucleotide variantPathogenicrs199469636GRCh37Chr 5, 136963994: 136963994
35KLHL3NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs199469638GRCh37Chr 5, 136997639: 136997639
36KLHL3NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile)single nucleotide variantPathogenicrs199469640GRCh37Chr 5, 136975563: 136975563
37KLHL3NM_017415.2(KLHL3): c.1670A> G (p.Tyr557Cys)single nucleotide variantPathogenicrs199469645GRCh37Chr 5, 136961507: 136961507
38KLHL3NM_017415.2(KLHL3): c.1582C> T (p.Arg528Cys)single nucleotide variantPathogenicrs199469635GRCh37Chr 5, 136963995: 136963995
39KLHL3NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn)single nucleotide variantPathogenicrs199469632GRCh37Chr 5, 136973006: 136973006
40WNK4NM_032387.4(WNK4): c.1693C> G (p.Gln565Glu)single nucleotide variantPathogenicrs137853092GRCh37Chr 17, 40939512: 40939512
41WNK4NM_032387.4(WNK4): c.1684G> A (p.Glu562Lys)single nucleotide variantPathogenicrs137853093GRCh37Chr 17, 40939503: 40939503
42WNK4NM_032387.4(WNK4): c.1691A> C (p.Asp564Ala)single nucleotide variantPathogenicrs137853094GRCh37Chr 17, 40939510: 40939510
43WNK4NM_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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15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Pseudohypoaldosteronism Type Iib.

Pathways for genes affiliated with Pseudohypoaldosteronism Type Iib

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Compounds for genes affiliated with Pseudohypoaldosteronism Type Iib

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GO Terms for genes affiliated with Pseudohypoaldosteronism Type Iib

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Products for genes affiliated with Pseudohypoaldosteronism Type Iib

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudohypoaldosteronism Type Iib

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet