MCID: PSD094
MIFTS: 18

Pseudohypoaldosteronism, Type Iib

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

Aliases & Classifications for Pseudohypoaldosteronism, Type Iib

MalaCards integrated aliases for Pseudohypoaldosteronism, Type Iib:

Name: Pseudohypoaldosteronism, Type Iib 53 13 69
Pha2b 53 55 71
Pseudohypoaldosteronism Type 2b 55 28
Pseudohypoaldosteronism 2b 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
15 patients from 5 kindreds reported (as of february 2012)
age at diagnosis 28 +/- 18 years
only 10% develop hypertension at 18 years of age or less
responsive to thiazide diuretics


HPO:

31
pseudohypoaldosteronism, type iib:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 614491
Orphanet 55 ORPHA88939
UMLS via Orphanet 70 C1840390
ICD10 via Orphanet 33 I15.1
MedGen 39 C1840390
MeSH 41 D011546
UMLS 69 C1840390

Summaries for Pseudohypoaldosteronism, Type Iib

UniProtKB/Swiss-Prot : 71 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, is also known as pha2b, 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

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iib

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
hyperkalemia (6.4 +/- 0.7 mm)
hyperchloremia (mean 111 mm)

Metabolic Features:
hyperchloremic metabolic acidosis, mild (hco3 20.8 +/- 2.3 mm)


Clinical features from OMIM:

614491

Human phenotypes related to Pseudohypoaldosteronism, Type Iib:

31
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 hyperkalemia 31 HP:0002153
3 hyperchloremic metabolic acidosis 31 HP:0004918
4 pseudohypoaldosteronism 31 HP:0008242
5 hyperchloremia 31 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:

# Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 2b 28 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:

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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