MCID: PSD094
MIFTS: 18

Pseudohypoaldosteronism, Type Iib

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

Aliases & Classifications for Pseudohypoaldosteronism, Type Iib

MalaCards integrated aliases for Pseudohypoaldosteronism, Type Iib:

Name: Pseudohypoaldosteronism, Type Iib 57 13 73
Pseudohypoaldosteronism Type 2b 59 29 6 40
Pha2b 57 59 75
Pseudohypoaldosteronism 2b 75

Characteristics:

OMIM:

57
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:

32
pseudohypoaldosteronism, type iib:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614491
Orphanet 59 ORPHA88939
ICD10 via Orphanet 34 I15.1
UMLS via Orphanet 74 C1840390
MedGen 42 C1840390
MeSH 44 D011546
UMLS 73 C1840390

Summaries for Pseudohypoaldosteronism, Type Iib

UniProtKB/Swiss-Prot : 75 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 pseudohypoaldosteronism type 2b. An important gene associated with Pseudohypoaldosteronism, Type Iib is WNK4 (WNK Lysine Deficient Protein Kinase 4). Related phenotypes are hypertension and hyperkalemia

Description from OMIM: 614491

Related Diseases for Pseudohypoaldosteronism, Type Iib

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iib

Symptoms via clinical synopsis from OMIM:

57
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:

32
# 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:

# Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 2b 29 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:

75
# 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
(show all 18)
# 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.1693C> G (p.Gln565Glu) single nucleotide variant Pathogenic rs137853092 GRCh38 Chromosome 17, 42787494: 42787494
3 WNK4 NM_032387.4(WNK4): c.1684G> A (p.Glu562Lys) single nucleotide variant Pathogenic rs137853093 GRCh37 Chromosome 17, 40939503: 40939503
4 WNK4 NM_032387.4(WNK4): c.1684G> A (p.Glu562Lys) single nucleotide variant Pathogenic rs137853093 GRCh38 Chromosome 17, 42787485: 42787485
5 WNK4 NM_032387.4(WNK4): c.1691A> C (p.Asp564Ala) single nucleotide variant Pathogenic rs137853094 GRCh37 Chromosome 17, 40939510: 40939510
6 WNK4 NM_032387.4(WNK4): c.1691A> C (p.Asp564Ala) single nucleotide variant Pathogenic rs137853094 GRCh38 Chromosome 17, 42787492: 42787492
7 WNK4 NM_032387.4(WNK4): c.3553C> T (p.Arg1185Cys) single nucleotide variant Pathogenic rs137853095 GRCh37 Chromosome 17, 40948262: 40948262
8 WNK4 NM_032387.4(WNK4): c.3553C> T (p.Arg1185Cys) single nucleotide variant Pathogenic rs137853095 GRCh38 Chromosome 17, 42796244: 42796244
9 WNK4 NM_032387.4(WNK4): c.1679A> G (p.Glu560Gly) single nucleotide variant Pathogenic rs193922734 GRCh38 Chromosome 17, 42787480: 42787480
10 WNK4 NM_032387.4(WNK4): c.1679A> G (p.Glu560Gly) single nucleotide variant Pathogenic rs193922734 GRCh37 Chromosome 17, 40939498: 40939498
11 WNK4 NM_032387.4(WNK4): c.1682C> T (p.Pro561Leu) single nucleotide variant Pathogenic rs193922735 GRCh38 Chromosome 17, 42787483: 42787483
12 WNK4 NM_032387.4(WNK4): c.1682C> T (p.Pro561Leu) single nucleotide variant Pathogenic rs193922735 GRCh37 Chromosome 17, 40939501: 40939501
13 WNK4 NM_032387.4(WNK4): c.1690G> C (p.Asp564His) single nucleotide variant Pathogenic rs193922736 GRCh38 Chromosome 17, 42787491: 42787491
14 WNK4 NM_032387.4(WNK4): c.1690G> C (p.Asp564His) single nucleotide variant Pathogenic rs193922736 GRCh37 Chromosome 17, 40939509: 40939509
15 WNK4 NM_032387.4(WNK4): c.3505A> G (p.Lys1169Glu) single nucleotide variant Pathogenic rs193922737 GRCh37 Chromosome 17, 40948214: 40948214
16 WNK4 NM_032387.4(WNK4): c.3505A> G (p.Lys1169Glu) single nucleotide variant Pathogenic rs193922737 GRCh38 Chromosome 17, 42796196: 42796196
17 WNK4 NM_032387.4(WNK4): c.3659G> T (p.Gly1220Val) single nucleotide variant Uncertain significance rs756125712 GRCh38 Chromosome 17, 42796508: 42796508
18 WNK4 NM_032387.4(WNK4): c.3659G> T (p.Gly1220Val) single nucleotide variant Uncertain significance rs756125712 GRCh37 Chromosome 17, 40948526: 40948526

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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