PHA2B
MCID: PSD094
MIFTS: 20

Pseudohypoaldosteronism, Type Iib (PHA2B) malady

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

Aliases & Classifications for Pseudohypoaldosteronism, Type Iib

Aliases & Descriptions for Pseudohypoaldosteronism, Type Iib:

Name: Pseudohypoaldosteronism, Type Iib 54 13 69
Pha2b 24 56 66
Pseudohypoaldosteronism 2b 66 29
Pseudohypoaldosteronism Type Iib 24
Pseudohypoaldosteronism Type 2b 56
Phaiib 24

Characteristics:

HPO:

32
pseudohypoaldosteronism, type iib:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614491
Orphanet 56 ORPHA88939
ICD10 via Orphanet 34 I15.1
MedGen 40 C1840390
MeSH 42 D011546

Summaries for Pseudohypoaldosteronism, Type Iib

UniProtKB/Swiss-Prot : 66 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: 614491

Related Diseases for Pseudohypoaldosteronism, Type Iib

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:

id Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type iia 11.0

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iib

Symptoms by clinical synopsis from OMIM:

614491

Clinical features from OMIM:

614491

Human phenotypes related to Pseudohypoaldosteronism, Type Iib:

32
id Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 hyperkalemia 32 HP:0002153
3 hyperchloremic metabolic acidosis 32 HP:0004918
4 pseudohypoaldosteronism 32 HP:0008242
5 hyperchloremia 32 HP:0011423

Drugs & Therapeutics for Pseudohypoaldosteronism, Type Iib

Search Clinical Trials , NIH Clinical Center for Pseudohypoaldosteronism, Type Iib

Genetic Tests for Pseudohypoaldosteronism, Type Iib

Genetic tests related to Pseudohypoaldosteronism, Type Iib:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 2b 29
2 Pseudohypoaldosteronism Type Iib 24 WNK4

Anatomical Context for Pseudohypoaldosteronism, Type Iib

Publications for Pseudohypoaldosteronism, Type Iib

Variations for Pseudohypoaldosteronism, Type Iib

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

66
id Symbol AA change Variation ID SNP ID
1 WNK4 p.Glu562Lys VAR_017588 rs137853093
2 WNK4 p.Asp564Ala VAR_017589 rs137853094
3 WNK4 p.Gln565Glu VAR_017590 rs137853092
4 WNK4 p.Arg1185Cys VAR_017591 rs137853095

ClinVar genetic disease variations for Pseudohypoaldosteronism, Type Iib:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WNK4 NM_032387.4(WNK4): c.1693C> G (p.Gln565Glu) single nucleotide variant Pathogenic rs137853092 GRCh37 Chromosome 17, 40939512: 40939512
2 WNK4 NM_032387.4(WNK4): c.1684G> A (p.Glu562Lys) single nucleotide variant Pathogenic rs137853093 GRCh37 Chromosome 17, 40939503: 40939503
3 WNK4 NM_032387.4(WNK4): c.1691A> C (p.Asp564Ala) single nucleotide variant Pathogenic rs137853094 GRCh37 Chromosome 17, 40939510: 40939510
4 WNK4 NM_032387.4(WNK4): c.3553C> T (p.Arg1185Cys) single nucleotide variant Pathogenic rs137853095 GRCh37 Chromosome 17, 40948262: 40948262
5 WNK4 NM_032387.4(WNK4): c.1679A> G (p.Glu560Gly) single nucleotide variant Pathogenic rs193922734 GRCh38 Chromosome 17, 42787480: 42787480
6 WNK4 NM_032387.4(WNK4): c.1682C> T (p.Pro561Leu) single nucleotide variant Pathogenic rs193922735 GRCh38 Chromosome 17, 42787483: 42787483
7 WNK4 NM_032387.4(WNK4): c.1690G> C (p.Asp564His) single nucleotide variant Pathogenic rs193922736 GRCh38 Chromosome 17, 42787491: 42787491
8 WNK4 NM_032387.4(WNK4): c.3505A> G (p.Lys1169Glu) single nucleotide variant Pathogenic rs193922737 GRCh37 Chromosome 17, 40948214: 40948214

Expression for Pseudohypoaldosteronism, Type Iib

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

Pathways for Pseudohypoaldosteronism, Type Iib

GO Terms for Pseudohypoaldosteronism, Type Iib

Sources for Pseudohypoaldosteronism, Type Iib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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