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 50 12 66
Pha2b 23 52 68
Pseudohypoaldosteronism 2b 68 25
 
Pseudohypoaldosteronism Type Iib 23
Pseudohypoaldosteronism Type 2b 52
Phaiib 23

Characteristics:

HPO:

62
pseudohypoaldosteronism, type iib:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 614491
Orphanet52 ORPHA88939
ICD10 via Orphanet29 I15.1
MedGen35 C1840390
MeSH37 D011546

Summaries for Pseudohypoaldosteronism, Type Iib

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UniProtKB/Swiss-Prot:68 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:50 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 iia10.1

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 2b25
2 Pseudohypoaldosteronism Type Iib23 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:

68
id Symbol AA change Variation ID SNP ID
1WNK4p.Glu562LysVAR_017588rs137853093
2WNK4p.Asp564AlaVAR_017589rs137853094
3WNK4p.Gln565GluVAR_017590rs137853092
4WNK4p.Arg1185CysVAR_017591rs137853095

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet