MCID: PSD094
MIFTS: 21

Pseudohypoaldosteronism, Type Iib malady

Categories: Genetic diseases, Cardiovascular diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Pseudohypoaldosteronism, Type Iib

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Aliases & Descriptions for Pseudohypoaldosteronism, Type Iib:

Name: Pseudohypoaldosteronism, Type Iib 49 11 65
Pha2b 22 51 67
Pseudohypoaldosteronism 2b 67 24
 
Pseudohypoaldosteronism Type Iib 22
Pseudohypoaldosteronism Type 2b 51
Phaiib 22

Characteristics:

HPO:

61
pseudohypoaldosteronism, type iib:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 614491
Orphanet51 88939
ICD10 via Orphanet28 I15.1
MedGen34 C1840390
MeSH36 D011546
UMLS65 C1840390

Summaries for Pseudohypoaldosteronism, Type Iib

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UniProtKB/Swiss-Prot:67 Pseudohypoaldosteronism 2B: An autosomal dominant disorder characterized by hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics.

MalaCards based summary: Pseudohypoaldosteronism, Type Iib, also known as pha2b, is related to pseudohypoaldosteronism, type iia, and has symptoms including hypertension, hyperkalemia and hyperchloremic metabolic acidosis. An important gene associated with Pseudohypoaldosteronism, Type Iib is WNK4 (WNK Lysine Deficient Protein Kinase 4).

Description from OMIM:49 614491

Related Diseases for Pseudohypoaldosteronism, Type Iib

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Diseases in the Pseudohypoaldosteronism family:

Pseudohypoaldosteronism, Type Iia Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism Type I, Autosomal Dominant Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Type I Pseudohypoaldosteronism, Type Iic
pseudohypoaldosteronism, type iib Transient Pseudohypoaldosteronism

Diseases related to Pseudohypoaldosteronism, Type Iib via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism, type iia10.5

Symptoms for Pseudohypoaldosteronism, Type Iib

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Symptoms by clinical synopsis from OMIM:

614491

Clinical features from OMIM:

614491

HPO human phenotypes related to Pseudohypoaldosteronism, Type Iib:

id Description Frequency HPO Source Accession
1 hypertension HP:0000822
2 hyperkalemia HP:0002153
3 hyperchloremic metabolic acidosis HP:0004918
4 pseudohypoaldosteronism HP:0008242
5 hyperchloremia HP:0011423

Drugs & Therapeutics for Pseudohypoaldosteronism, Type Iib

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Interventional clinical trials:

Search ClinicalTrials, 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 Iib22 WNK4

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:

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1WNK4NM_032387.4(WNK4): c.1693C> G (p.Gln565Glu)single nucleotide variantPathogenicrs137853092GRCh37Chr 17, 40939512: 40939512
2WNK4NM_032387.4(WNK4): c.1684G> A (p.Glu562Lys)single nucleotide variantPathogenicrs137853093GRCh37Chr 17, 40939503: 40939503
3WNK4NM_032387.4(WNK4): c.1691A> C (p.Asp564Ala)single nucleotide variantPathogenicrs137853094GRCh37Chr 17, 40939510: 40939510
4WNK4NM_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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Search GEO for disease gene expression data for Pseudohypoaldosteronism, Type Iib.

Pathways for genes affiliated with Pseudohypoaldosteronism, Type Iib

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GO Terms for genes affiliated with Pseudohypoaldosteronism, Type Iib

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Sources for Pseudohypoaldosteronism, Type Iib

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet