MCID: PSD094
MIFTS: 20

Pseudohypoaldosteronism, Type Iib malady

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

Aliases & Classifications for Pseudohypoaldosteronism, Type Iib

About this section

Aliases & Descriptions for Pseudohypoaldosteronism, Type Iib:

Name: Pseudohypoaldosteronism, Type Iib 51 12 67
Pha2b 24 53 69
Pseudohypoaldosteronism 2b 69 26
 
Pseudohypoaldosteronism Type Iib 24
Pseudohypoaldosteronism Type 2b 53
Phaiib 24

Characteristics:

HPO:

63
pseudohypoaldosteronism, type iib:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 614491
Orphanet53 ORPHA88939
ICD10 via Orphanet30 I15.1
MedGen36 C1840390
MeSH38 D011546

Summaries for Pseudohypoaldosteronism, Type Iib

About this section
UniProtKB/Swiss-Prot:69 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:51 614491

Related Diseases for Pseudohypoaldosteronism, Type Iib

About this section

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 iia11.0

Symptoms for Pseudohypoaldosteronism, Type Iib

About this section

Symptoms by clinical synopsis from OMIM:

614491

Clinical features from OMIM:

614491

Human phenotypes related to Pseudohypoaldosteronism, Type Iib:

 63
id Description HPO Frequency HPO Source Accession
1 hypertension63 HP:0000822
2 hyperkalemia63 HP:0002153
3 hyperchloremic metabolic acidosis63 HP:0004918
4 pseudohypoaldosteronism63 HP:0008242
5 hyperchloremia63 HP:0011423

Drugs & Therapeutics for Pseudohypoaldosteronism, Type Iib

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pseudohypoaldosteronism, Type Iib

Genetic Tests for Pseudohypoaldosteronism, Type Iib

About this section

Genetic tests related to Pseudohypoaldosteronism, Type Iib:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 2b26
2 Pseudohypoaldosteronism Type Iib24 WNK4

Anatomical Context for Pseudohypoaldosteronism, Type Iib

About this section

Animal Models for Pseudohypoaldosteronism, Type Iib or affiliated genes

About this section

Publications for Pseudohypoaldosteronism, Type Iib

About this section

Variations for Pseudohypoaldosteronism, Type Iib

About this section

UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism, Type Iib:

69
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)SNVPathogenicrs137853092GRCh37Chr 17, 40939512: 40939512
2WNK4NM_032387.4(WNK4): c.1684G> A (p.Glu562Lys)SNVPathogenicrs137853093GRCh37Chr 17, 40939503: 40939503
3WNK4NM_032387.4(WNK4): c.1691A> C (p.Asp564Ala)SNVPathogenicrs137853094GRCh37Chr 17, 40939510: 40939510
4WNK4NM_032387.4(WNK4): c.3553C> T (p.Arg1185Cys)SNVPathogenicrs137853095GRCh37Chr 17, 40948262: 40948262

Expression for genes affiliated with Pseudohypoaldosteronism, Type Iib

About this section
Search GEO for disease gene expression data for Pseudohypoaldosteronism, Type Iib.

Pathways for genes affiliated with Pseudohypoaldosteronism, Type Iib

About this section

GO Terms for genes affiliated with Pseudohypoaldosteronism, Type Iib

About this section

Sources for Pseudohypoaldosteronism, Type Iib

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet