PHA2C
MCID: PSD068
MIFTS: 25

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 metabolic acidosis

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 metabolic acidosis 31 HP:0001942
3 hyperkalemia 31 HP:0002153
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 56 6
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:

6 (show top 50) (show all 190) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WNK1 NM_213655.4(WNK1):c.759+12272_760-5774deldeletion Pathogenic 5161 12:875762-917034 12:766596-807868
2 WNK1 nsv513769deletion Pathogenic 5162 12:885724-907501 12:776558-798335
3 WNK1 NM_018979.4(WNK1):c.2140-2568C>TSNV Pathogenic 5168 rs111033591 12:977863-977863 12:868697-868697
4 WNK1 NM_018979.4(WNK1):c.2140-2518dupduplication Pathogenic 21270 rs137852735 12:977911-977912 12:868745-868746
5 WNK1 NM_018979.4(WNK1):c.3331C>T (p.Arg1111Ter)SNV Pathogenic 643570 12:991198-991198 12:882032-882032
6 WNK1 NM_018979.4(WNK1):c.2139+2872dupduplication Pathogenic 641047 12:974306-974307 12:865140-865141
7 WNK1 NM_018979.4(WNK1):c.2140-3158G>ASNV Pathogenic 659035 12:977273-977273 12:868107-868107
8 WNK1 NM_018979.4(WNK1):c.2275_2282dup (p.Gln761fs)duplication Pathogenic 658949 12:987426-987427 12:878260-878261
9 WNK1 NM_018979.4(WNK1):c.2468A>G (p.His823Arg)SNV Conflicting interpretations of pathogenicity 310749 rs56015776 12:988833-988833 12:879667-879667
10 WNK1 NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser)SNV Conflicting interpretations of pathogenicity 306664 rs146042595 12:1017830-1017830 12:908664-908664
11 WNK1 NM_018979.4(WNK1):c.578C>A (p.Pro193Gln)SNV Conflicting interpretations of pathogenicity 310545 rs72647372 12:863309-863309 12:754143-754143
12 WNK1 NM_018979.4(WNK1):c.2401A>G (p.Ile801Val)SNV Conflicting interpretations of pathogenicity 440420 rs139449198 12:988766-988766 12:879600-879600
13 WNK1 NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala)SNV Conflicting interpretations of pathogenicity 310741 rs149388376 12:970413-970413 12:861247-861247
14 WNK1 NM_018979.4(WNK1):c.5869C>T (p.Arg1957Cys)SNV Uncertain significance 306612 rs201766777 12:1005522-1005522 12:896356-896356
15 WNK1 NM_018979.4(WNK1):c.2092G>C (p.Val698Leu)SNV Uncertain significance 471171 rs764336343 12:971389-971389 12:862223-862223
16 WNK1 NM_018979.4(WNK1):c.3573G>C (p.Met1191Ile)SNV Uncertain significance 471181 rs1555148491 12:992644-992644 12:883478-883478
17 WNK1 NM_018979.4(WNK1):c.4547C>A (p.Pro1516His)SNV Uncertain significance 471190 rs1454330405 12:994517-994517 12:885351-885351
18 WNK1 NM_018979.4(WNK1):c.4925C>T (p.Thr1642Ile)SNV Uncertain significance 471193 rs1555150817 12:994895-994895 12:885729-885729
19 WNK1 NM_018979.4(WNK1):c.5492C>G (p.Thr1831Arg)SNV Uncertain significance 471198 rs373765496 12:999662-999662 12:890496-890496
20 WNK1 NM_018979.4(WNK1):c.6059G>A (p.Ser2020Asn)SNV Uncertain significance 471203 rs1555158125 12:1005712-1005712 12:896546-896546
21 WNK1 NM_018979.4(WNK1):c.3883T>C (p.Ser1295Pro)SNV Uncertain significance 471185 rs1555149377 12:993853-993853 12:884687-884687
22 WNK1 NM_018979.4(WNK1):c.4388G>A (p.Ser1463Asn)SNV Uncertain significance 471188 rs757201529 12:994358-994358 12:885192-885192
23 WNK1 NM_018979.4(WNK1):c.4474G>A (p.Val1492Ile)SNV Uncertain significance 471189 rs774954731 12:994444-994444 12:885278-885278
24 WNK1 NM_018979.4(WNK1):c.5290G>T (p.Val1764Leu)SNV Uncertain significance 471196 rs201521760 12:996396-996396 12:887230-887230
25 WNK1 NM_018979.4(WNK1):c.7003G>A (p.Ala2335Thr)SNV Uncertain significance 471210 rs375901694 12:1017812-1017812 12:908646-908646
26 WNK1 NM_018979.4(WNK1):c.214A>G (p.Thr72Ala)SNV Uncertain significance 471172 rs1483871160 12:862945-862945 12:753779-753779
27 WNK1 NM_018979.4(WNK1):c.595C>G (p.Gln199Glu)SNV Uncertain significance 471202 rs1404174344 12:863326-863326 12:754160-754160
28 WNK1 NM_018979.4(WNK1):c.3029T>C (p.Val1010Ala)SNV Uncertain significance 471176 rs769099133 12:990083-990083 12:880917-880917
29 WNK1 NM_018979.4(WNK1):c.3209G>C (p.Ser1070Thr)SNV Uncertain significance 471177 rs760251215 12:990955-990955 12:881789-881789
30 WNK1 NM_018979.4(WNK1):c.2140-2423G>ASNV Uncertain significance 452834 rs201042606 12:978008-978008 12:868842-868842
31 WNK1 NM_018979.4(WNK1):c.65C>T (p.Ala22Val)SNV Uncertain significance 471208 rs1245390063 12:862796-862796 12:753630-753630
32 WNK1 NM_018979.4(WNK1):c.413C>T (p.Pro138Leu)SNV Uncertain significance 471186 rs1277355342 12:863144-863144 12:753978-753978
33 WNK1 NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile)SNV Uncertain significance 310816 rs201379287 12:990934-990934 12:881768-881768
34 WNK1 NM_018979.4(WNK1):c.5258A>G (p.Lys1753Arg)SNV Uncertain significance 310833 rs752078094 12:995228-995228 12:886062-886062
35 WNK1 NM_018979.4(WNK1):c.2139+2852C>TSNV Uncertain significance 191028 rs786205473 12:974288-974288 12:865122-865122
36 WNK1 NM_018979.4(WNK1):c.5943T>G (p.Phe1981Leu)SNV Uncertain significance 306613 rs72650765 12:1005596-1005596 12:896430-896430
37 WNK1 NM_018979.4(WNK1):c.1790G>A (p.Ser597Asn)SNV Uncertain significance 310739 rs757732497 12:970348-970348 12:861182-861182
38 WNK1 NM_018979.4(WNK1):c.5530C>T (p.Pro1844Ser)SNV Uncertain significance 471199 rs769345308 12:1003748-1003748 12:894582-894582
39 WNK1 NM_018979.4(WNK1):c.6152G>T (p.Ser2051Ile)SNV Uncertain significance 471205 rs561238194 12:1005805-1005805 12:896639-896639
40 WNK1 NM_018979.4(WNK1):c.6374G>A (p.Arg2125Gln)SNV Uncertain significance 471206 rs757825668 12:1006773-1006773 12:897607-897607
41 WNK1 NM_018979.4(WNK1):c.217A>G (p.Thr73Ala)SNV Uncertain significance 471173 rs1038270127 12:862948-862948 12:753782-753782
42 WNK1 NM_018979.4(WNK1):c.564C>T (p.Gly188=)SNV Uncertain significance 471201 rs72647371 12:863295-863295 12:754129-754129
43 WNK1 NM_018979.4(WNK1):c.2558C>T (p.Thr853Met)SNV Uncertain significance 471174 rs766223909 12:988923-988923 12:879757-879757
44 WNK1 NM_018979.4(WNK1):c.2684A>G (p.Gln895Arg)SNV Uncertain significance 471175 rs200100184 12:989049-989049 12:879883-879883
45 WNK1 NM_018979.4(WNK1):c.3326G>A (p.Arg1109His)SNV Uncertain significance 471178 rs750478389 12:991193-991193 12:882027-882027
46 WNK1 NM_018979.4(WNK1):c.5189C>T (p.Thr1730Ile)SNV Uncertain significance 471194 rs375562377 12:995159-995159 12:885993-885993
47 WNK1 NM_018979.4(WNK1):c.6503A>T (p.His2168Leu)SNV Uncertain significance 471207 rs1555160733 12:1009696-1009696 12:900530-900530
48 WNK1 NM_018979.4(WNK1):c.1769A>G (p.Lys590Arg)SNV Uncertain significance 500502 rs780986326 12:970327-970327 12:861161-861161
49 WNK1 NM_018979.4(WNK1):c.6278G>A (p.Arg2093His)SNV Uncertain significance 502108 rs200315094 12:1006677-1006677 12:897511-897511
50 WNK1 NC_000012.11:g.(?_862712)_(980534_?)dupduplication Uncertain significance 538546 12:862712-980534 12:753546-871368

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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