PHA2B
MCID: PSD094
MIFTS: 21

Pseudohypoaldosteronism, Type Iib (PHA2B)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Pseudohypoaldosteronism, Type Iib

MalaCards integrated aliases for Pseudohypoaldosteronism, Type Iib:

Name: Pseudohypoaldosteronism, Type Iib 58 13 74
Pseudohypoaldosteronism Type 2b 60 30 6 41
Pha2b 58 60 76
Pseudohypoaldosteronism 2b 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
responsive to thiazide diuretics
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


HPO:

33
pseudohypoaldosteronism, type iib:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614491
MeSH 45 D011546
ICD10 via Orphanet 35 I15.1
UMLS via Orphanet 75 C1840390
Orphanet 60 ORPHA88939
MedGen 43 C1840390
UMLS 74 C1840390

Summaries for Pseudohypoaldosteronism, Type Iib

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include bone, and related phenotypes are hypertension and hyperkalemia

Description from OMIM: 614491

Related Diseases for Pseudohypoaldosteronism, Type Iib

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iib

Human phenotypes related to Pseudohypoaldosteronism, Type Iib:

33
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 hyperkalemia 33 HP:0002153
3 hyperchloremic metabolic acidosis 33 HP:0004918
4 pseudohypoaldosteronism 33 HP:0008242
5 hyperchloremia 33 HP:0011423

Symptoms via clinical synopsis from OMIM:

58
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

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 30 WNK4

Anatomical Context for Pseudohypoaldosteronism, Type Iib

MalaCards organs/tissues related to Pseudohypoaldosteronism, Type Iib:

42
Bone

Publications for Pseudohypoaldosteronism, Type Iib

Articles related to Pseudohypoaldosteronism, Type Iib:

# Title Authors Year
1
Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation. ( 15292344 )
2004
2
Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. ( 12107233 )
2002
3
Human hypertension caused by mutations in WNK kinases. ( 11498583 )
2001
4
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. ( 9171836 )
1997
5
Familial hyperpotassemia and hypertension accompanied by normal plasma aldosterone levels: possible hereditary cell membrane defect. ( 718348 )
1978

Variations for Pseudohypoaldosteronism, Type Iib

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

76
# 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 Uncertain significance rs137853095 GRCh37 Chromosome 17, 40948262: 40948262
8 WNK4 NM_032387.4(WNK4): c.3553C> T (p.Arg1185Cys) single nucleotide variant Uncertain significance 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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