MCID: PSD094
MIFTS: 20

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 52 12 68
Pha2b 24 54 70
Pseudohypoaldosteronism 2b 70 27
 
Pseudohypoaldosteronism Type Iib 24
Pseudohypoaldosteronism Type 2b 54
Phaiib 24

Characteristics:

HPO:

64
pseudohypoaldosteronism, type iib:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 614491
Orphanet54 ORPHA88939
ICD10 via Orphanet31 I15.1
MedGen37 C1840390
MeSH39 D011546

Summaries for Pseudohypoaldosteronism, Type Iib

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UniProtKB/Swiss-Prot:70 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:52 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 iia11.0

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iib

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Symptoms by clinical synopsis from OMIM:

614491

Clinical features from OMIM:

614491

Human phenotypes related to Pseudohypoaldosteronism, Type Iib:

 64
id Description HPO Frequency HPO Source Accession
1 hypertension64 HP:0000822
2 hyperkalemia64 HP:0002153
3 hyperchloremic metabolic acidosis64 HP:0004918
4 pseudohypoaldosteronism64 HP:0008242
5 hyperchloremia64 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 2b27
2 Pseudohypoaldosteronism Type Iib24 WNK4

Anatomical Context for Pseudohypoaldosteronism, Type Iib

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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:

70
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

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet