PHA2
MCID: PSD054
MIFTS: 32

Pseudohypoaldosteronism Type Iib (PHA2) malady

Cardiovascular diseases, Nephrological diseases, Genetic diseases categories

Summaries for Pseudohypoaldosteronism Type Iib

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46OMIM, 32MalaCards
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MalaCards: Pseudohypoaldosteronism Type Iib, also known as pseudohypoaldosteronism, type iib, is related to pseudohypoaldosteronism type ii and pseudohypoaldosteronism, and has symptoms including chronic arterial hypertension, short stature/dwarfism/nanism and muscle weakness/flaccidity. An important gene associated with Pseudohypoaldosteronism Type Iib is WNK4 (WNK lysine deficient protein kinase 4).

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

Aliases & Classifications for Pseudohypoaldosteronism Type Iib

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 46 60
pseudohypoaldosteronism type 2 48 46
hyperkaliemia - hypertension, gordon type 48
gordon hyperkalemia-hypertension syndrome 48
mineralocorticoid resistant hyperkalemia 48
familial hyperkalemic hypertension 48
pseudohypoaldosteronism, type ii 60
pseudohypoaldosteronism type 2b 48
spitzer-weinstein syndrome 48
hypertensive hyperkalemia 48
chloride shunt syndrome 48
phaii 48
pha2b 48
pha2 48


External Ids:

ICD10 via Orphanet26 I15.1
SNOMED-CT via Orphanet57 15689008
UMLS via Orphanet61 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

Clinical Features for Pseudohypoaldosteronism Type Iib

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46OMIM, 48Orphanet
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Clinical features from OMIM:

145260,614491,614492,614495,614496

Clinical synopsis from OMIM:

145260

Symptoms:

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

Drugs & Therapeutics for Pseudohypoaldosteronism Type Iib

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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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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Genetic Variations for Pseudohypoaldosteronism Type Iib

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Pseudohypoaldosteronism Type Iib:

62
id Symbol AA change Variation ID SNP ID
1WNK4p.Glu562LysVAR_017588
2WNK4p.Asp564AlaVAR_017589
3WNK4p.Gln565GluVAR_017590
4WNK4p.Arg1185CysVAR_017591

Expression for genes affiliated with Pseudohypoaldosteronism Type Iib

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Sources:
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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet