PHA2B
MCID: PSD094
MIFTS: 25

Pseudohypoaldosteronism, Type Iib (PHA2B)

Categories: Blood diseases, Cardiovascular 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 57 13 70
Pseudohypoaldosteronism Type 2b 58 29 6 39
Pha2b 57 58 72
Pseudohypoaldosteronism 2b 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
pseudohypoaldosteronism, type iib:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases


External Ids:

OMIM® 57 614491
OMIM Phenotypic Series 57 PS145260
MeSH 44 D011546
ICD10 via Orphanet 33 I15.1
UMLS via Orphanet 71 C1840390
Orphanet 58 ORPHA88939
MedGen 41 C1840390
UMLS 70 C1840390

Summaries for Pseudohypoaldosteronism, Type Iib

UniProtKB/Swiss-Prot : 72 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

More information from OMIM: 614491 PS145260

Related Diseases for Pseudohypoaldosteronism, Type Iib

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iib

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Articles related to Pseudohypoaldosteronism, Type Iib:

(show all 12)
# Title Authors PMID Year
1
Human hypertension caused by mutations in WNK kinases. 6 57
11498583 2001
2
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. 6 57
9171836 1997
3
Familial hyperpotassemia and hypertension accompanied by normal plasma aldosterone levels: possible hereditary cell membrane defect. 57 6
718348 1978
4
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. 57
22266938 2012
5
Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation. 6
15292344 2004
6
Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. 6
12107233 2002
7
Familial hyperkalaemia responsive to benzothiadiazine diuretic. 57
6103235 1980
8
Hypertension and hyperkalaemia responding to bendrofluazide. 57
504550 1979
9
Proximal renal tubular acidosis: association with familial normaldosteronemic hyperpotassemia and hypertension. 57
718349 1978
10
[Familial hyperkalemia and hypertension]. 57
964728 1976
11
Phenotypic and genetic heterogeneity of familial hyperkalaemic hypertension (Gordon syndrome). 61
11903313 2001
12
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. 61
10869238 2000

Variations for Pseudohypoaldosteronism, Type Iib

ClinVar genetic disease variations for Pseudohypoaldosteronism, Type Iib:

6 (show top 50) (show all 110)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNK4 NM_032387.5(WNK4):c.1510C>T (p.Gln504Ter) SNV Pathogenic 997561 GRCh37: 17:40939329-40939329
GRCh38: 17:42787311-42787311
2 WNK4 NM_032387.5(WNK4):c.2017C>T (p.Arg673Ter) SNV Pathogenic 998222 GRCh37: 17:40940402-40940402
GRCh38: 17:42788384-42788384
3 WNK4 NM_032387.5(WNK4):c.3404G>A (p.Trp1135Ter) SNV Pathogenic 998223 GRCh37: 17:40948024-40948024
GRCh38: 17:42796006-42796006
4 WNK4 NM_032387.5(WNK4):c.2295+1G>A SNV Pathogenic 1032956 GRCh37: 17:40945748-40945748
GRCh38: 17:42793730-42793730
5 WNK4 NM_032387.5(WNK4):c.3133del (p.Ser1045fs) Deletion Pathogenic 1034137 GRCh37: 17:40947752-40947752
GRCh38: 17:42795734-42795734
6 WNK4 NM_032387.5(WNK4):c.1693C>G (p.Gln565Glu) SNV Pathogenic 7660 rs137853092 GRCh37: 17:40939512-40939512
GRCh38: 17:42787494-42787494
7 WNK4 NM_032387.5(WNK4):c.1684G>A (p.Glu562Lys) SNV Pathogenic 7661 rs137853093 GRCh37: 17:40939503-40939503
GRCh38: 17:42787485-42787485
8 WNK4 NM_032387.5(WNK4):c.1691A>C (p.Asp564Ala) SNV Pathogenic 7662 rs137853094 GRCh37: 17:40939510-40939510
GRCh38: 17:42787492-42787492
9 WNK4 NM_032387.5(WNK4):c.1682C>T (p.Pro561Leu) SNV Pathogenic 375697 rs193922735 GRCh37: 17:40939501-40939501
GRCh38: 17:42787483-42787483
10 WNK4 NM_032387.5(WNK4):c.1679A>G (p.Glu560Gly) SNV Pathogenic 375696 rs193922734 GRCh37: 17:40939498-40939498
GRCh38: 17:42787480-42787480
11 WNK4 NM_032387.5(WNK4):c.1690G>C (p.Asp564His) SNV Pathogenic 375698 rs193922736 GRCh37: 17:40939509-40939509
GRCh38: 17:42787491-42787491
12 WNK4 NM_032387.5(WNK4):c.3505A>G (p.Lys1169Glu) SNV Pathogenic 375699 rs193922737 GRCh37: 17:40948214-40948214
GRCh38: 17:42796196-42796196
13 WNK4 NM_032387.5(WNK4):c.3432-5C>T SNV Uncertain significance 891895 GRCh37: 17:40948136-40948136
GRCh38: 17:42796118-42796118
14 WNK4 NM_032387.5(WNK4):c.3440C>T (p.Ser1147Leu) SNV Uncertain significance 891896 GRCh37: 17:40948149-40948149
GRCh38: 17:42796131-42796131
15 WNK4 NM_032387.5(WNK4):c.3595C>T (p.Arg1199Cys) SNV Uncertain significance 891897 GRCh37: 17:40948304-40948304
GRCh38: 17:42796286-42796286
16 WNK4 NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys) SNV Uncertain significance 7663 rs137853095 GRCh37: 17:40948262-40948262
GRCh38: 17:42796244-42796244
17 WNK4 NM_032387.5(WNK4):c.937C>G (p.Pro313Ala) SNV Uncertain significance 891764 GRCh37: 17:40936100-40936100
GRCh38: 17:42784082-42784082
18 WNK4 NM_032387.5(WNK4):c.1073T>A (p.Val358Glu) SNV Uncertain significance 891765 GRCh37: 17:40936500-40936500
GRCh38: 17:42784482-42784482
19 WNK4 NM_032387.5(WNK4):c.1357C>T (p.Leu453Phe) SNV Uncertain significance 891766 GRCh37: 17:40937381-40937381
GRCh38: 17:42785363-42785363
20 WNK4 NM_032387.5(WNK4):c.2264T>A (p.Met755Lys) SNV Uncertain significance 891834 GRCh37: 17:40945716-40945716
GRCh38: 17:42793698-42793698
21 WNK4 NM_032387.5(WNK4):c.*340C>A SNV Uncertain significance 323358 rs886052954 GRCh37: 17:40949046-40949046
GRCh38: 17:42797028-42797028
22 WNK4 NM_032387.5(WNK4):c.2823G>A (p.Leu941=) SNV Uncertain significance 323344 rs371107660 GRCh37: 17:40947262-40947262
GRCh38: 17:42795244-42795244
23 WNK4 NM_032387.5(WNK4):c.3523A>G (p.Ile1175Val) SNV Uncertain significance 323353 rs761259011 GRCh37: 17:40948232-40948232
GRCh38: 17:42796214-42796214
24 WNK4 NM_032387.5(WNK4):c.1809G>A (p.Gln603=) SNV Uncertain significance 323328 rs768020150 GRCh37: 17:40939863-40939863
GRCh38: 17:42787845-42787845
25 WNK4 NM_032387.5(WNK4):c.1339G>A (p.Asp447Asn) SNV Uncertain significance 323317 rs566923583 GRCh37: 17:40937363-40937363
GRCh38: 17:42785345-42785345
26 WNK4 NM_032387.5(WNK4):c.2900C>G (p.Pro967Arg) SNV Uncertain significance 323348 rs775923469 GRCh37: 17:40947339-40947339
GRCh38: 17:42795321-42795321
27 WNK4 NM_032387.5(WNK4):c.14C>T (p.Pro5Leu) SNV Uncertain significance 323309 rs577125376 GRCh37: 17:40932730-40932730
GRCh38: 17:42780712-42780712
28 WNK4 NM_032387.5(WNK4):c.3659G>T (p.Gly1220Val) SNV Uncertain significance 492932 rs756125712 GRCh37: 17:40948526-40948526
GRCh38: 17:42796508-42796508
29 WNK4 NM_032387.5(WNK4):c.2009G>A (p.Arg670His) SNV Uncertain significance 693993 rs367768336 GRCh37: 17:40940394-40940394
GRCh38: 17:42788376-42788376
30 WNK4 NM_032387.5(WNK4):c.1527A>G (p.Ala509=) SNV Uncertain significance 889336 GRCh37: 17:40939346-40939346
GRCh38: 17:42787328-42787328
31 WNK4 NM_032387.5(WNK4):c.2610C>T (p.Pro870=) SNV Uncertain significance 889390 GRCh37: 17:40947049-40947049
GRCh38: 17:42795031-42795031
32 WNK4 NM_032387.5(WNK4):c.2625A>G (p.Pro875=) SNV Uncertain significance 889391 GRCh37: 17:40947064-40947064
GRCh38: 17:42795046-42795046
33 WNK4 NM_032387.5(WNK4):c.3632-14C>A SNV Uncertain significance 889441 GRCh37: 17:40948485-40948485
GRCh38: 17:42796467-42796467
34 WNK4 NM_032387.5(WNK4):c.*148C>T SNV Uncertain significance 889442 GRCh37: 17:40948854-40948854
GRCh38: 17:42796836-42796836
35 WNK4 NM_032387.5(WNK4):c.*370A>G SNV Uncertain significance 889443 GRCh37: 17:40949076-40949076
GRCh38: 17:42797058-42797058
36 WNK4 NM_032387.5(WNK4):c.79C>G (p.Pro27Ala) SNV Uncertain significance 889955 GRCh37: 17:40932795-40932795
GRCh38: 17:42780777-42780777
37 WNK4 NM_032387.5(WNK4):c.164G>A (p.Arg55His) SNV Uncertain significance 889957 GRCh37: 17:40932880-40932880
GRCh38: 17:42780862-42780862
38 WNK4 NM_032387.5(WNK4):c.2681C>T (p.Pro894Leu) SNV Uncertain significance 890080 GRCh37: 17:40947120-40947120
GRCh38: 17:42795102-42795102
39 WNK4 NM_032387.5(WNK4):c.2814C>G (p.Ala938=) SNV Uncertain significance 890081 GRCh37: 17:40947253-40947253
GRCh38: 17:42795235-42795235
40 WNK4 NM_032387.5(WNK4):c.2860C>T (p.Pro954Ser) SNV Uncertain significance 890082 GRCh37: 17:40947299-40947299
GRCh38: 17:42795281-42795281
41 WNK4 NM_032387.5(WNK4):c.1741+9C>G SNV Uncertain significance 890018 GRCh37: 17:40939569-40939569
GRCh38: 17:42787551-42787551
42 WNK4 NM_032387.5(WNK4):c.3223C>T (p.Arg1075Cys) SNV Uncertain significance 890656 GRCh37: 17:40947843-40947843
GRCh38: 17:42795825-42795825
43 WNK4 NM_032387.5(WNK4):c.3409G>A (p.Glu1137Lys) SNV Uncertain significance 890657 GRCh37: 17:40948029-40948029
GRCh38: 17:42796011-42796011
44 WNK4 NM_032387.5(WNK4):c.316C>A (p.Pro106Thr) SNV Uncertain significance 891514 GRCh37: 17:40933032-40933032
GRCh38: 17:42781014-42781014
45 WNK4 NM_032387.5(WNK4):c.450G>A (p.Arg150=) SNV Uncertain significance 891516 GRCh37: 17:40933166-40933166
GRCh38: 17:42781148-42781148
46 WNK4 NM_032387.5(WNK4):c.560C>T (p.Thr187Met) SNV Uncertain significance 891517 GRCh37: 17:40933276-40933276
GRCh38: 17:42781258-42781258
47 WNK4 NM_032387.5(WNK4):c.643C>T (p.Arg215Trp) SNV Uncertain significance 891518 GRCh37: 17:40934800-40934800
GRCh38: 17:42782782-42782782
48 WNK4 NM_032387.5(WNK4):c.716C>G (p.Ser239Trp) SNV Likely benign 891519 GRCh37: 17:40934873-40934873
GRCh38: 17:42782855-42782855
49 WNK4 NM_032387.5(WNK4):c.1818G>A (p.Gly606=) SNV Likely benign 891575 GRCh37: 17:40939872-40939872
GRCh38: 17:42787854-42787854
50 WNK4 NM_032387.5(WNK4):c.2481C>T (p.Pro827=) SNV Likely benign 889389 GRCh37: 17:40946920-40946920
GRCh38: 17:42794902-42794902

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

72
# 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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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