PHA2C
MCID: PSD068
MIFTS: 19

Pseudohypoaldosteronism, Type Iic (PHA2C)

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

Aliases & Classifications for Pseudohypoaldosteronism, Type Iic

MalaCards integrated aliases for Pseudohypoaldosteronism, Type Iic:

Name: Pseudohypoaldosteronism, Type Iic 58 13 74
Pseudohypoaldosteronism Type 2c 60 30 6 41
Pha2c 58 60 76
Pseudohypoaldosteronism 2c 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
responsive to thiazide diuretics
23 patients from 2 kindreds reported (as of february 2012)
age at diagnosis 36 +/- 20 years
only 13% develop hypertension at 18 years of age or less


HPO:

33
pseudohypoaldosteronism, type iic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614492
MeSH 45 D011546
ICD10 via Orphanet 35 I15.1
UMLS via Orphanet 75 C1840391
Orphanet 60 ORPHA88940
MedGen 43 C1840391
UMLS 74 C1840391

Summaries for Pseudohypoaldosteronism, Type Iic

UniProtKB/Swiss-Prot : 76 Pseudohypoaldosteronism 2C: An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis in some cases, and correction of physiologic abnormalities by thiazide diuretics.

MalaCards based summary : Pseudohypoaldosteronism, Type Iic, is also known as pseudohypoaldosteronism type 2c. An important gene associated with Pseudohypoaldosteronism, Type Iic is WNK1 (WNK Lysine Deficient Protein Kinase 1). Related phenotypes are hypertension and metabolic acidosis

Description from OMIM: 614492

Related Diseases for Pseudohypoaldosteronism, Type Iic

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iic

Human phenotypes related to Pseudohypoaldosteronism, Type Iic:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 metabolic acidosis 33 HP:0001942
3 hyperkalemia 33 HP:0002153
4 hyperchloremic metabolic acidosis 33 HP:0004918
5 pseudohypoaldosteronism 33 HP:0008242
6 hyperchloremia 33 HP:0011423

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
hyperkalemia (5.8 +/- 0.8 mm)
hyperchloremia (mean 109 mm)

Metabolic Features:
hyperchloremic metabolic acidosis, mild, in some cases (hco3 22.4 +/- 4.6 mm)

Clinical features from OMIM:

614492

Drugs & Therapeutics for Pseudohypoaldosteronism, Type Iic

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

Genetic Tests for Pseudohypoaldosteronism, Type Iic

Genetic tests related to Pseudohypoaldosteronism, Type Iic:

# Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 2c 30 WNK1

Anatomical Context for Pseudohypoaldosteronism, Type Iic

Publications for Pseudohypoaldosteronism, Type Iic

Articles related to Pseudohypoaldosteronism, Type Iic:

# Title Authors Year
1
Human hypertension caused by mutations in WNK kinases. ( 11498583 )
2001
2
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. ( 10869238 )
2000

Variations for Pseudohypoaldosteronism, Type Iic

ClinVar genetic disease variations for Pseudohypoaldosteronism, Type Iic:

6 (show top 50) (show all 358)
# Gene Variation Type Significance SNP ID Assembly Location
1 WNK1 NM_213655.4(WNK1): c.759+12272_760-5774del deletion Pathogenic GRCh37 Chromosome 12, 875762: 917034
2 WNK1 NM_213655.4(WNK1): c.759+12272_760-5774del deletion Pathogenic GRCh38 Chromosome 12, 766596: 807868
3 WNK1 NG_007984.2: g.28500_50277del21778 deletion Pathogenic GRCh37 Chromosome 12, 885724: 907501
4 WNK1 NG_007984.2: g.28500_50277del21778 deletion Pathogenic GRCh38 Chromosome 12, 776558: 798335
5 WNK1 NM_001184985.1(WNK1): c.3021dupA (p.Ser1008Ilefs) duplication Pathogenic rs137852735 GRCh37 Chromosome 12, 977913: 977913
6 WNK1 NM_001184985.1(WNK1): c.3021dupA (p.Ser1008Ilefs) duplication Pathogenic rs137852735 GRCh38 Chromosome 12, 868747: 868747
7 WNK1 NM_018979.3(WNK1): c.3516A> G (p.Ile1172Met) single nucleotide variant Likely benign rs150532648 GRCh37 Chromosome 12, 992587: 992587
8 WNK1 NM_018979.3(WNK1): c.3516A> G (p.Ile1172Met) single nucleotide variant Likely benign rs150532648 GRCh38 Chromosome 12, 883421: 883421
9 WNK1 NM_213655.4(WNK1): c.2152C> T (p.Arg718Cys) single nucleotide variant Uncertain significance rs786205473 GRCh38 Chromosome 12, 865122: 865122
10 WNK1 NM_213655.4(WNK1): c.2152C> T (p.Arg718Cys) single nucleotide variant Uncertain significance rs786205473 GRCh37 Chromosome 12, 974288: 974288
11 WNK1 NM_018979.3(WNK1): c.3578G> A (p.Ser1193Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs72650720 GRCh37 Chromosome 12, 992649: 992649
12 WNK1 NM_018979.3(WNK1): c.3578G> A (p.Ser1193Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs72650720 GRCh38 Chromosome 12, 883483: 883483
13 WNK1 NM_018979.3(WNK1): c.5281-4G> A single nucleotide variant Benign/Likely benign rs72650740 GRCh37 Chromosome 12, 996383: 996383
14 WNK1 NM_018979.3(WNK1): c.5281-4G> A single nucleotide variant Benign/Likely benign rs72650740 GRCh38 Chromosome 12, 887217: 887217
15 WNK1 NM_018979.3(WNK1): c.2490G> A (p.Pro830=) single nucleotide variant Benign/Likely benign rs79816263 GRCh37 Chromosome 12, 988855: 988855
16 WNK1 NM_018979.3(WNK1): c.2490G> A (p.Pro830=) single nucleotide variant Benign/Likely benign rs79816263 GRCh38 Chromosome 12, 879689: 879689
17 WNK1 NM_018979.3(WNK1): c.6150T> C (p.Leu2050=) single nucleotide variant Conflicting interpretations of pathogenicity rs151331381 GRCh37 Chromosome 12, 1005803: 1005803
18 WNK1 NM_018979.3(WNK1): c.6150T> C (p.Leu2050=) single nucleotide variant Conflicting interpretations of pathogenicity rs151331381 GRCh38 Chromosome 12, 896637: 896637
19 WNK1 NM_018979.3(WNK1): c.1074C> T (p.Thr358=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648621 GRCh37 Chromosome 12, 936349: 936349
20 WNK1 NM_018979.3(WNK1): c.1074C> T (p.Thr358=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648621 GRCh38 Chromosome 12, 827183: 827183
21 WNK1 NM_018979.3(WNK1): c.108G> C (p.Gly36=) single nucleotide variant Conflicting interpretations of pathogenicity rs375485682 GRCh38 Chromosome 12, 753673: 753673
22 WNK1 NM_018979.3(WNK1): c.108G> C (p.Gly36=) single nucleotide variant Conflicting interpretations of pathogenicity rs375485682 GRCh37 Chromosome 12, 862839: 862839
23 WNK1 NM_018979.3(WNK1): c.684C> T (p.Gly228=) single nucleotide variant Benign/Likely benign rs72647374 GRCh38 Chromosome 12, 754249: 754249
24 WNK1 NM_018979.3(WNK1): c.684C> T (p.Gly228=) single nucleotide variant Benign/Likely benign rs72647374 GRCh37 Chromosome 12, 863415: 863415
25 WNK1 NM_018979.3(WNK1): c.2468A> G (p.His823Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs56015776 GRCh37 Chromosome 12, 988833: 988833
26 WNK1 NM_018979.3(WNK1): c.2468A> G (p.His823Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs56015776 GRCh38 Chromosome 12, 879667: 879667
27 WNK1 NM_018979.3(WNK1): c.5397A> G (p.Gln1799=) single nucleotide variant Benign rs148639270 GRCh37 Chromosome 12, 998338: 998338
28 WNK1 NM_018979.3(WNK1): c.5397A> G (p.Gln1799=) single nucleotide variant Benign rs148639270 GRCh38 Chromosome 12, 889172: 889172
29 WNK1 NM_018979.3(WNK1): c.5943T> G (p.Phe1981Leu) single nucleotide variant Uncertain significance rs72650765 GRCh38 Chromosome 12, 896430: 896430
30 WNK1 NM_018979.3(WNK1): c.5943T> G (p.Phe1981Leu) single nucleotide variant Uncertain significance rs72650765 GRCh37 Chromosome 12, 1005596: 1005596
31 WNK1 NM_018979.3(WNK1): c.5991G> A (p.Glu1997=) single nucleotide variant Benign/Likely benign rs61736907 GRCh38 Chromosome 12, 896478: 896478
32 WNK1 NM_018979.3(WNK1): c.5991G> A (p.Glu1997=) single nucleotide variant Benign/Likely benign rs61736907 GRCh37 Chromosome 12, 1005644: 1005644
33 WNK1 NM_018979.3(WNK1): c.7021G> A (p.Gly2341Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146042595 GRCh38 Chromosome 12, 908664: 908664
34 WNK1 NM_018979.3(WNK1): c.7021G> A (p.Gly2341Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146042595 GRCh37 Chromosome 12, 1017830: 1017830
35 WNK1 NM_018979.3(WNK1): c.446C> T (p.Ala149Val) single nucleotide variant Benign/Likely benign rs34880640 GRCh38 Chromosome 12, 754011: 754011
36 WNK1 NM_018979.3(WNK1): c.446C> T (p.Ala149Val) single nucleotide variant Benign/Likely benign rs34880640 GRCh37 Chromosome 12, 863177: 863177
37 WNK1 NM_018979.3(WNK1): c.915G> A (p.Thr305=) single nucleotide variant Likely benign rs72648609 GRCh38 Chromosome 12, 813797: 813797
38 WNK1 NM_018979.3(WNK1): c.915G> A (p.Thr305=) single nucleotide variant Likely benign rs72648609 GRCh37 Chromosome 12, 922963: 922963
39 WNK1 NM_018979.3(WNK1): c.1834G> A (p.Gly612Ser) single nucleotide variant Likely benign rs146450828 GRCh37 Chromosome 12, 970392: 970392
40 WNK1 NM_018979.3(WNK1): c.1834G> A (p.Gly612Ser) single nucleotide variant Likely benign rs146450828 GRCh38 Chromosome 12, 861226: 861226
41 WNK1 NM_018979.3(WNK1): c.2081T> C (p.Ile694Thr) single nucleotide variant Benign/Likely benign rs61736905 GRCh37 Chromosome 12, 971378: 971378
42 WNK1 NM_018979.3(WNK1): c.2081T> C (p.Ile694Thr) single nucleotide variant Benign/Likely benign rs61736905 GRCh38 Chromosome 12, 862212: 862212
43 WNK1 NM_018979.3(WNK1): c.4983T> C (p.Ser1661=) single nucleotide variant Benign/Likely benign rs149852592 GRCh37 Chromosome 12, 994953: 994953
44 WNK1 NM_018979.3(WNK1): c.4983T> C (p.Ser1661=) single nucleotide variant Benign/Likely benign rs149852592 GRCh38 Chromosome 12, 885787: 885787
45 WNK1 NM_018979.3(WNK1): c.5496G> A (p.Gln1832=) single nucleotide variant Benign/Likely benign rs138219481 GRCh37 Chromosome 12, 999666: 999666
46 WNK1 NM_018979.3(WNK1): c.5496G> A (p.Gln1832=) single nucleotide variant Benign/Likely benign rs138219481 GRCh38 Chromosome 12, 890500: 890500
47 WNK1 NM_018979.3(WNK1): c.578C> A (p.Pro193Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72647372 GRCh38 Chromosome 12, 754143: 754143
48 WNK1 NM_018979.3(WNK1): c.578C> A (p.Pro193Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72647372 GRCh37 Chromosome 12, 863309: 863309
49 WNK1 NM_018979.3(WNK1): c.1512A> G (p.Leu504=) single nucleotide variant Benign/Likely benign rs56325964 GRCh37 Chromosome 12, 968522: 968522
50 WNK1 NM_018979.3(WNK1): c.1512A> G (p.Leu504=) single nucleotide variant Benign/Likely benign rs56325964 GRCh38 Chromosome 12, 859356: 859356

Expression for Pseudohypoaldosteronism, Type Iic

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

Pathways for Pseudohypoaldosteronism, Type Iic

GO Terms for Pseudohypoaldosteronism, Type Iic

Sources for Pseudohypoaldosteronism, Type Iic

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