PHA2
MCID: PSD054
MIFTS: 25

Pseudohypoaldosteronism Type Iib (PHA2) malady

Cardiovascular, Nephrological, Genetic categories

Summaries for Pseudohypoaldosteronism Type Iib

Sources:
47OMIM, 33MalaCards
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MalaCards: Pseudohypoaldosteronism Type Iib, also known as pseudohypoaldosteronism, type iib, is related to familial hypertension and pseudohypoaldosteronism, and has symptoms including nausea/vomiting/regurgitation/merycism/hyperemesis, failure to thrive/difficulties for feeding in infancy/growth delay and autosomal dominant inheritance. 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

Sources:
49Orphanet, 47OMIM, 20GeneTests, 22GTR, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Cardiovascular, Nephrological


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 61
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 61
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 Orphanet58 15689008
UMLS via Orphanet62 C1449844

Related Diseases for Pseudohypoaldosteronism Type Iib

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Pseudohypoaldosteronism Type Iib:



Diseases related to pseudohypoaldosteronism type iib

Clinical Features for Pseudohypoaldosteronism Type Iib

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

145260,614491,614492,614495,614496

Clinical synopsis from OMIM:

145260

Symptoms:

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

Drugs & Therapeutics for Pseudohypoaldosteronism Type Iib

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Pseudohypoaldosteronism Type Iib

Drug clinical trials:

Search ClinicalTrials for Pseudohypoaldosteronism Type Iib

Search NIH Clinical Center for Pseudohypoaldosteronism Type Iib

Search CenterWatch for Pseudohypoaldosteronism Type Iib

Genetic Tests for Pseudohypoaldosteronism Type Iib

Sources:
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

Animal Models for Pseudohypoaldosteronism Type Iib or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pseudohypoaldosteronism Type Iib

Genetic Variations for Pseudohypoaldosteronism Type Iib

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Pseudohypoaldosteronism Type Iib:

63
id Symbol AA change Variation SNP ID
1WNK4p.Glu562LysVAR_017588
2WNK4p.Asp564AlaVAR_017589
3WNK4p.Gln565GluVAR_017590
4WNK4p.Arg1185CysVAR_017591

Expression for genes affiliated with Pseudohypoaldosteronism Type Iib

Sources:
15Gene Expression Omnibus DataSets
See all sources

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

Pathways for genes affiliated with Pseudohypoaldosteronism Type Iib

Compounds for genes affiliated with Pseudohypoaldosteronism Type Iib

GO Terms for genes affiliated with Pseudohypoaldosteronism Type Iib

Products for genes affiliated with Pseudohypoaldosteronism Type Iib

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudohypoaldosteronism Type Iib

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet