MCID: PSD068
MIFTS: 18

Pseudohypoaldosteronism, Type Iic

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

Aliases & Classifications for Pseudohypoaldosteronism, Type Iic

MalaCards integrated aliases for Pseudohypoaldosteronism, Type Iic:

Name: Pseudohypoaldosteronism, Type Iic 57 13 73
Pseudohypoaldosteronism Type 2c 59 29 6 40
Pha2c 57 59 75
Pseudohypoaldosteronism 2c 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
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
responsive to thiazide diuretics


HPO:

32
pseudohypoaldosteronism, type iic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614492
Orphanet 59 ORPHA88940
ICD10 via Orphanet 34 I15.1
UMLS via Orphanet 74 C1840391
MedGen 42 C1840391
MeSH 44 D011546
UMLS 73 C1840391

Summaries for Pseudohypoaldosteronism, Type Iic

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Pseudohypoaldosteronism, Type Iic:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 metabolic acidosis 32 HP:0001942
3 hyperkalemia 32 HP:0002153
4 hyperchloremic metabolic acidosis 32 HP:0004918
5 pseudohypoaldosteronism 32 HP:0008242
6 hyperchloremia 32 HP:0011423

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 29 WNK1

Anatomical Context for Pseudohypoaldosteronism, Type Iic

Publications for Pseudohypoaldosteronism, Type Iic

Variations for Pseudohypoaldosteronism, Type Iic

ClinVar genetic disease variations for Pseudohypoaldosteronism, Type Iic:

6
(show top 50) (show all 268)
# 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.3578G> A (p.Ser1193Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs72650720 GRCh37 Chromosome 12, 992649: 992649
8 WNK1 NM_018979.3(WNK1): c.3578G> A (p.Ser1193Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs72650720 GRCh38 Chromosome 12, 883483: 883483
9 WNK1 NM_018979.3(WNK1): c.5281-4G> A single nucleotide variant Benign/Likely benign rs72650740 GRCh37 Chromosome 12, 996383: 996383
10 WNK1 NM_018979.3(WNK1): c.5281-4G> A single nucleotide variant Benign/Likely benign rs72650740 GRCh38 Chromosome 12, 887217: 887217
11 WNK1 NM_018979.3(WNK1): c.2490G> A (p.Pro830=) single nucleotide variant Benign/Likely benign rs79816263 GRCh37 Chromosome 12, 988855: 988855
12 WNK1 NM_018979.3(WNK1): c.2490G> A (p.Pro830=) single nucleotide variant Benign/Likely benign rs79816263 GRCh38 Chromosome 12, 879689: 879689
13 WNK1 NM_018979.3(WNK1): c.6150T> C (p.Leu2050=) single nucleotide variant Conflicting interpretations of pathogenicity rs151331381 GRCh37 Chromosome 12, 1005803: 1005803
14 WNK1 NM_018979.3(WNK1): c.6150T> C (p.Leu2050=) single nucleotide variant Conflicting interpretations of pathogenicity rs151331381 GRCh38 Chromosome 12, 896637: 896637
15 WNK1 NM_018979.3(WNK1): c.1074C> T (p.Thr358=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648621 GRCh37 Chromosome 12, 936349: 936349
16 WNK1 NM_018979.3(WNK1): c.1074C> T (p.Thr358=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648621 GRCh38 Chromosome 12, 827183: 827183
17 WNK1 NM_018979.3(WNK1): c.108G> C (p.Gly36=) single nucleotide variant Conflicting interpretations of pathogenicity rs375485682 GRCh38 Chromosome 12, 753673: 753673
18 WNK1 NM_018979.3(WNK1): c.108G> C (p.Gly36=) single nucleotide variant Conflicting interpretations of pathogenicity rs375485682 GRCh37 Chromosome 12, 862839: 862839
19 WNK1 NM_018979.3(WNK1): c.684C> T (p.Gly228=) single nucleotide variant Benign/Likely benign rs72647374 GRCh38 Chromosome 12, 754249: 754249
20 WNK1 NM_018979.3(WNK1): c.684C> T (p.Gly228=) single nucleotide variant Benign/Likely benign rs72647374 GRCh37 Chromosome 12, 863415: 863415
21 WNK1 NM_018979.3(WNK1): c.2468A> G (p.His823Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs56015776 GRCh37 Chromosome 12, 988833: 988833
22 WNK1 NM_018979.3(WNK1): c.2468A> G (p.His823Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs56015776 GRCh38 Chromosome 12, 879667: 879667
23 WNK1 NM_018979.3(WNK1): c.5397A> G (p.Gln1799=) single nucleotide variant Benign rs148639270 GRCh37 Chromosome 12, 998338: 998338
24 WNK1 NM_018979.3(WNK1): c.5397A> G (p.Gln1799=) single nucleotide variant Benign rs148639270 GRCh38 Chromosome 12, 889172: 889172
25 WNK1 NM_018979.3(WNK1): c.5991G> A (p.Glu1997=) single nucleotide variant Benign/Likely benign rs61736907 GRCh38 Chromosome 12, 896478: 896478
26 WNK1 NM_018979.3(WNK1): c.5991G> A (p.Glu1997=) single nucleotide variant Benign/Likely benign rs61736907 GRCh37 Chromosome 12, 1005644: 1005644
27 WNK1 NM_018979.3(WNK1): c.7021G> A (p.Gly2341Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146042595 GRCh38 Chromosome 12, 908664: 908664
28 WNK1 NM_018979.3(WNK1): c.7021G> A (p.Gly2341Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146042595 GRCh37 Chromosome 12, 1017830: 1017830
29 WNK1 NM_018979.3(WNK1): c.446C> T (p.Ala149Val) single nucleotide variant Benign/Likely benign rs34880640 GRCh38 Chromosome 12, 754011: 754011
30 WNK1 NM_018979.3(WNK1): c.446C> T (p.Ala149Val) single nucleotide variant Benign/Likely benign rs34880640 GRCh37 Chromosome 12, 863177: 863177
31 WNK1 NM_018979.3(WNK1): c.915G> A (p.Thr305=) single nucleotide variant Likely benign rs72648609 GRCh38 Chromosome 12, 813797: 813797
32 WNK1 NM_018979.3(WNK1): c.915G> A (p.Thr305=) single nucleotide variant Likely benign rs72648609 GRCh37 Chromosome 12, 922963: 922963
33 WNK1 NM_018979.3(WNK1): c.1834G> A (p.Gly612Ser) single nucleotide variant Likely benign rs146450828 GRCh37 Chromosome 12, 970392: 970392
34 WNK1 NM_018979.3(WNK1): c.1834G> A (p.Gly612Ser) single nucleotide variant Likely benign rs146450828 GRCh38 Chromosome 12, 861226: 861226
35 WNK1 NM_018979.3(WNK1): c.2081T> C (p.Ile694Thr) single nucleotide variant Benign/Likely benign rs61736905 GRCh37 Chromosome 12, 971378: 971378
36 WNK1 NM_018979.3(WNK1): c.2081T> C (p.Ile694Thr) single nucleotide variant Benign/Likely benign rs61736905 GRCh38 Chromosome 12, 862212: 862212
37 WNK1 NM_018979.3(WNK1): c.4983T> C (p.Ser1661=) single nucleotide variant Benign/Likely benign rs149852592 GRCh37 Chromosome 12, 994953: 994953
38 WNK1 NM_018979.3(WNK1): c.4983T> C (p.Ser1661=) single nucleotide variant Benign/Likely benign rs149852592 GRCh38 Chromosome 12, 885787: 885787
39 WNK1 NM_018979.3(WNK1): c.5496G> A (p.Gln1832=) single nucleotide variant Benign/Likely benign rs138219481 GRCh38 Chromosome 12, 890500: 890500
40 WNK1 NM_018979.3(WNK1): c.5496G> A (p.Gln1832=) single nucleotide variant Benign/Likely benign rs138219481 GRCh37 Chromosome 12, 999666: 999666
41 WNK1 NM_018979.3(WNK1): c.578C> A (p.Pro193Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72647372 GRCh38 Chromosome 12, 754143: 754143
42 WNK1 NM_018979.3(WNK1): c.578C> A (p.Pro193Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72647372 GRCh37 Chromosome 12, 863309: 863309
43 WNK1 NM_018979.3(WNK1): c.1512A> G (p.Leu504=) single nucleotide variant Benign/Likely benign rs56325964 GRCh37 Chromosome 12, 968522: 968522
44 WNK1 NM_018979.3(WNK1): c.1512A> G (p.Leu504=) single nucleotide variant Benign/Likely benign rs56325964 GRCh38 Chromosome 12, 859356: 859356
45 WNK1 NM_018979.3(WNK1): c.2206A> G (p.Ile736Val) single nucleotide variant Benign/Likely benign rs147099510 GRCh37 Chromosome 12, 980497: 980497
46 WNK1 NM_018979.3(WNK1): c.2206A> G (p.Ile736Val) single nucleotide variant Benign/Likely benign rs147099510 GRCh38 Chromosome 12, 871331: 871331
47 WNK1 NM_018979.3(WNK1): c.2652G> A (p.Ala884=) single nucleotide variant Conflicting interpretations of pathogenicity rs142528714 GRCh37 Chromosome 12, 989017: 989017
48 WNK1 NM_018979.3(WNK1): c.2652G> A (p.Ala884=) single nucleotide variant Conflicting interpretations of pathogenicity rs142528714 GRCh38 Chromosome 12, 879851: 879851
49 WNK1 NM_018979.3(WNK1): c.3112-10C> T single nucleotide variant Likely benign rs72650715 GRCh38 Chromosome 12, 881682: 881682
50 WNK1 NM_018979.3(WNK1): c.3112-10C> T single nucleotide variant Likely benign rs72650715 GRCh37 Chromosome 12, 990848: 990848

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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