PHA2C
MCID: PSD068
MIFTS: 26

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 56 13 71
Pseudohypoaldosteronism Type 2c 58 29 6 39
Pha2c 56 58 73
Pseudohypoaldosteronism 2c 73

Characteristics:

OMIM:

56
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:

31
pseudohypoaldosteronism, type iic:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases


External Ids:

OMIM 56 614492
OMIM Phenotypic Series 56 PS145260
MeSH 43 D011546
ICD10 via Orphanet 33 I15.1
UMLS via Orphanet 72 C1840391
Orphanet 58 ORPHA88940
MedGen 41 C1840391
UMLS 71 C1840391

Summaries for Pseudohypoaldosteronism, Type Iic

UniProtKB/Swiss-Prot : 73 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 hyperkalemia

More information from OMIM: 614492 PS145260

Related Diseases for Pseudohypoaldosteronism, Type Iic

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iic

Human phenotypes related to Pseudohypoaldosteronism, Type Iic:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 hyperkalemia 31 HP:0002153
3 metabolic acidosis 31 HP:0001942
4 hyperchloremic metabolic acidosis 31 HP:0004918
5 pseudohypoaldosteronism 31 HP:0008242
6 hyperchloremia 31 HP:0011423

Symptoms via clinical synopsis from OMIM:

56
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 29 WNK1

Anatomical Context for Pseudohypoaldosteronism, Type Iic

Publications for Pseudohypoaldosteronism, Type Iic

Articles related to Pseudohypoaldosteronism, Type Iic:

# Title Authors PMID Year
1
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. 61 6 56
10869238 2000
2
Human hypertension caused by mutations in WNK kinases. 56 6
11498583 2001
3
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. 56
22266938 2012
4
Pseudohypoaldosteronism Type II 6
22073419 2011
5
Phenotypic and genetic heterogeneity of familial hyperkalaemic hypertension (Gordon syndrome). 61
11903313 2001

Variations for Pseudohypoaldosteronism, Type Iic

ClinVar genetic disease variations for Pseudohypoaldosteronism, Type Iic:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WNK1 NM_018979.4(WNK1):c.3331C>T (p.Arg1111Ter)SNV Pathogenic 643570 12:991198-991198 12:882032-882032
2 WNK1 NM_018979.4(WNK1):c.2139+2872dupduplication Pathogenic 641047 12:974306-974307 12:865140-865141
3 WNK1 NM_018979.4(WNK1):c.2140-3158G>ASNV Pathogenic 659035 12:977273-977273 12:868107-868107
4 WNK1 NM_018979.4(WNK1):c.2275_2282dup (p.Gln761fs)duplication Pathogenic 658949 12:987426-987427 12:878260-878261
5 WNK1 NM_213655.4(WNK1):c.759+12272_760-5774deldeletion Pathogenic 5161 12:875762-917034 12:766596-807868
6 WNK1 nsv513769deletion Pathogenic 5162 12:885724-907501 12:776558-798335
7 WNK1 NM_018979.4(WNK1):c.2140-2568C>TSNV Pathogenic 5168 rs111033591 12:977863-977863 12:868697-868697
8 WNK1 NM_018979.4(WNK1):c.2140-2518dupduplication Pathogenic 21270 rs137852735 12:977911-977912 12:868745-868746
9 WNK1 NC_000012.12:g.(?_827032)_(862280_?)dupduplication Likely pathogenic 832199 12:936198-971446
10 WNK1 NM_018979.4(WNK1):c.264C>T (p.Ser88=)SNV Conflicting interpretations of pathogenicity 756829 12:862995-862995 12:753829-753829
11 WNK1 NM_018979.4(WNK1):c.128C>G (p.Ala43Gly)SNV Conflicting interpretations of pathogenicity 565458 rs775564750 12:862859-862859 12:753693-753693
12 WNK1 NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala)SNV Conflicting interpretations of pathogenicity 571493 rs72650764 12:1005504-1005504 12:896338-896338
13 WNK1 NM_018979.4(WNK1):c.2139+3062C>TSNV Conflicting interpretations of pathogenicity 424999 rs72649848 12:974498-974498 12:865332-865332
14 WNK1 NM_018979.4(WNK1):c.2401A>G (p.Ile801Val)SNV Conflicting interpretations of pathogenicity 440420 rs139449198 12:988766-988766 12:879600-879600
15 WNK1 NM_018979.4(WNK1):c.5189C>T (p.Thr1730Ile)SNV Conflicting interpretations of pathogenicity 471194 rs375562377 12:995159-995159 12:885993-885993
16 WNK1 NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del)deletion Conflicting interpretations of pathogenicity 471200 rs544395150 12:1003758-1003766 12:894592-894600
17 WNK1 NM_018979.4(WNK1):c.3859G>T (p.Ala1287Ser)SNV Conflicting interpretations of pathogenicity 471184 rs149186881 12:993829-993829 12:884663-884663
18 WNK1 NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)SNV Conflicting interpretations of pathogenicity 194667 rs72650720 12:992649-992649 12:883483-883483
19 WNK1 NM_018979.4(WNK1):c.5281-4G>ASNV Conflicting interpretations of pathogenicity 195525 rs72650740 12:996383-996383 12:887217-887217
20 WNK1 NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu)SNV Conflicting interpretations of pathogenicity 195834 rs201995891 12:1005387-1005387 12:896221-896221
21 WNK1 NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)SNV Conflicting interpretations of pathogenicity 289744 rs151331381 12:1005803-1005803 12:896637-896637
22 WNK1 NM_018979.4(WNK1):c.1074C>T (p.Thr358=)SNV Conflicting interpretations of pathogenicity 289745 rs72648621 12:936349-936349 12:827183-827183
23 WNK1 NM_018979.4(WNK1):c.-234T>CSNV Conflicting interpretations of pathogenicity 310528 rs368645018 12:862498-862498 12:753332-753332
24 WNK1 NM_018979.4(WNK1):c.108G>C (p.Gly36=)SNV Conflicting interpretations of pathogenicity 310538 rs375485682 12:862839-862839 12:753673-753673
25 WNK1 NM_018979.4(WNK1):c.2468A>G (p.His823Arg)SNV Conflicting interpretations of pathogenicity 310749 rs56015776 12:988833-988833 12:879667-879667
26 WNK1 NM_018979.4(WNK1):c.3845-14G>ASNV Conflicting interpretations of pathogenicity 310824 rs368270119 12:993801-993801 12:884635-884635
27 WNK1 NM_018979.4(WNK1):c.3899C>T (p.Ser1300Phe)SNV Conflicting interpretations of pathogenicity 310825 rs143361850 12:993869-993869 12:884703-884703
28 WNK1 NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser)SNV Conflicting interpretations of pathogenicity 306664 rs146042595 12:1017830-1017830 12:908664-908664
29 WNK1 NM_018979.4(WNK1):c.*2244T>GSNV Conflicting interpretations of pathogenicity 306716 rs565358026 12:1020202-1020202 12:911036-911036
30 WNK1 NM_018979.4(WNK1):c.-253A>GSNV Conflicting interpretations of pathogenicity 310527 rs549380671 12:862479-862479 12:753313-753313
31 WNK1 NM_018979.4(WNK1):c.3354A>C (p.Pro1118=)SNV Conflicting interpretations of pathogenicity 310817 rs549781052 12:991221-991221 12:882055-882055
32 WNK1 NM_018979.4(WNK1):c.4983T>C (p.Ser1661=)SNV Conflicting interpretations of pathogenicity 310832 rs149852592 12:994953-994953 12:885787-885787
33 WNK1 NM_018979.4(WNK1):c.578C>A (p.Pro193Gln)SNV Conflicting interpretations of pathogenicity 310545 rs72647372 12:863309-863309 12:754143-754143
34 WNK1 NM_018979.4(WNK1):c.2652G>A (p.Ala884=)SNV Conflicting interpretations of pathogenicity 310752 rs142528714 12:989017-989017 12:879851-879851
35 WNK1 NM_018979.4(WNK1):c.2206A>G (p.Ile736Val)SNV Conflicting interpretations of pathogenicity 310745 rs147099510 12:980497-980497 12:871331-871331
36 WNK1 NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile)SNV Conflicting interpretations of pathogenicity 310816 rs201379287 12:990934-990934 12:881768-881768
37 WNK1 NM_018979.4(WNK1):c.5258A>G (p.Lys1753Arg)SNV Conflicting interpretations of pathogenicity 310833 rs752078094 12:995228-995228 12:886062-886062
38 WNK1 NM_018979.4(WNK1):c.*1169G>ASNV Conflicting interpretations of pathogenicity 306689 rs549160638 12:1019127-1019127 12:909961-909961
39 WNK1 NM_018979.4(WNK1):c.*1307G>ASNV Conflicting interpretations of pathogenicity 306691 rs547941922 12:1019265-1019265 12:910099-910099
40 WNK1 NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala)SNV Conflicting interpretations of pathogenicity 310741 rs149388376 12:970413-970413 12:861247-861247
41 WNK1 NM_018979.4(WNK1):c.1434C>T (p.Phe478=)SNV Conflicting interpretations of pathogenicity 310736 rs61736906 12:968444-968444 12:859278-859278
42 WNK1 NM_018979.4(WNK1):c.4270A>G (p.Ile1424Val)SNV Conflicting interpretations of pathogenicity 310826 rs752331641 12:994240-994240 12:885074-885074
43 WNK1 NM_018979.4(WNK1):c.4354A>G (p.Thr1452Ala)SNV Conflicting interpretations of pathogenicity 310828 rs142543401 12:994324-994324 12:885158-885158
44 WNK1 NM_018979.4(WNK1):c.4384G>C (p.Gly1462Arg)SNV Conflicting interpretations of pathogenicity 310829 rs368621387 12:994354-994354 12:885188-885188
45 WNK1 NM_018979.4(WNK1):c.5869C>T (p.Arg1957Cys)SNV Conflicting interpretations of pathogenicity 306612 rs201766777 12:1005522-1005522 12:896356-896356
46 WNK1 NM_018979.4(WNK1):c.3175A>G (p.Thr1059Ala)SNV Uncertain significance 310815 rs886049924 12:990921-990921 12:881755-881755
47 WNK1 NM_018979.4(WNK1):c.6825T>C (p.Asn2275=)SNV Uncertain significance 306663 rs374193324 12:1017194-1017194 12:908028-908028
48 WNK1 NM_018979.4(WNK1):c.*378A>GSNV Uncertain significance 306670 rs886048804 12:1018336-1018336 12:909170-909170
49 WNK1 NM_018979.4(WNK1):c.*389C>TSNV Uncertain significance 306671 rs886048805 12:1018347-1018347 12:909181-909181
50 WNK1 NM_018979.4(WNK1):c.*463C>ASNV Uncertain significance 306673 rs886048806 12:1018421-1018421 12:909255-909255

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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