MCID: PSD090
MIFTS: 32

Pseudohypoaldosteronism, Type Iia

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

Aliases & Classifications for Pseudohypoaldosteronism, Type Iia

MalaCards integrated aliases for Pseudohypoaldosteronism, Type Iia:

Name: Pseudohypoaldosteronism, Type Iia 57 73
Pha2a 57 59
Hyperpotassemia and Hypertension, Familial 57
Gordon Hyperkalemia-Hypertension Syndrome 57
Hypertensive Hyperkalemia, Familial 57
Pseudohypoaldosteronism Type Iia 13
Pseudohypoaldosteronism, Type Ii 73
Pseudohypoaldosteronism Type 2a 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
responsive to thiazide diuretics


HPO:

32
pseudohypoaldosteronism, type iia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 145260
Orphanet 59 ORPHA88938
ICD10 via Orphanet 34 I15.1
UMLS via Orphanet 74 C1840389
MedGen 42 C1840389

Summaries for Pseudohypoaldosteronism, Type Iia

OMIM : 57 Pseudohypoaldosteronism type II (PHA2), also known as Gordon hyperkalemia-hypertension syndrome, is characterized by hyperkalemia despite normal renal glomerular filtration, hypertension, and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis, and suppressed plasma renin (179820) activity are variable associated findings (summary by Mansfield et al., 1997). (145260)

MalaCards based summary : Pseudohypoaldosteronism, Type Iia, also known as pha2a, is related to pseudohypoaldosteronism, type iie and pseudohypoaldosteronism. An important gene associated with Pseudohypoaldosteronism, Type Iia is KLHL3 (Kelch Like Family Member 3). Affiliated tissues include bone, and related phenotypes are hypertension and hyperkalemia

Related Diseases for Pseudohypoaldosteronism, Type Iia

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iia

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hyperkalemia

Muscle Soft Tissue:
muscle aches, intermittent

Cardiovascular Vascular:
hypertension, mild


Clinical features from OMIM:

145260

Human phenotypes related to Pseudohypoaldosteronism, Type Iia:

32
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 hyperkalemia 32 HP:0002153
3 hyperchloremic acidosis 32 HP:0001995
4 periodic hyperkalemic paralysis 32 HP:0007215
5 pseudohypoaldosteronism 32 HP:0008242

GenomeRNAi Phenotypes related to Pseudohypoaldosteronism, Type Iia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.96 CUL3 KLHL3
2 Synthetic lethal with c-Myc after tamoxifen stimulation GR00215-A 8.62 CUL3 KLHL3

Drugs & Therapeutics for Pseudohypoaldosteronism, Type Iia

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

Genetic Tests for Pseudohypoaldosteronism, Type Iia

Anatomical Context for Pseudohypoaldosteronism, Type Iia

MalaCards organs/tissues related to Pseudohypoaldosteronism, Type Iia:

41
Bone

Publications for Pseudohypoaldosteronism, Type Iia

Articles related to Pseudohypoaldosteronism, Type Iia:

(show all 29)
# Title Authors Year
1
Decreased KLHL3 expression is involved in the pathogenesis of pseudohypoaldosteronism type II caused by cullin 3 mutation in vivo. ( 29869755 )
2018
2
A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II. ( 29511623 )
2018
3
Pseudohypoaldosteronism Type II: A Young Girl Presented with Hypertension, Hyperkalemia and Metabolic Acidosis. ( 29482694 )
2018
4
A mouse model of pseudohypoaldosteronism type II reveals a novel mechanism of renal tubular acidosis. ( 30146013 )
2018
5
Generation and analysis of a mouse model of pseudohypoaldosteronism type II caused by KLHL3 mutation in BTB domain. ( 30148674 )
2018
6
Pseudohypoaldosteronism Type II Caused by CUL3 Mutation Presented with Visual Impairment. ( 30058590 )
2018
7
Pendred, pendrin, pseudohypoaldosteronism type II, and renal tubular acidosis. ( 30143066 )
2018
8
WNK4 is indispensable for the pathogenesis of pseudohypoaldosteronism type II caused by mutant KLHL3. ( 28743496 )
2017
9
KLHL3 Knockout Mice Reveal the Physiological Role of KLHL3 and the Pathophysiology of Pseudohypoaldosteronism Type II Caused by Mutant KLHL3. ( 28052936 )
2017
10
A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. ( 27780982 )
2016
11
Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene. ( 26490675 )
2015
12
Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Questions. ( 24396028 )
2014
13
Evaluation of Phosphorylated Urinary Na-Cl Cotransporter Is Potentially Useful in a Patient With Pseudohypoaldosteronism Type II due to Mutation in CUL3. ( 27335910 )
2014
14
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). ( 23336180 )
2013
15
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. ( 23902721 )
2013
16
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. ( 23689903 )
2013
17
A molecular update on pseudohypoaldosteronism type II. ( 24107425 )
2013
18
Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism type II. ( 21196779 )
2011
19
Phenotypes of pseudohypoaldosteronism type II caused by the WNK4 D561A missense mutation are dependent on the WNK-OSR1/SPAK kinase cascade. ( 21486947 )
2011
20
Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice. ( 20181799 )
2010
21
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. ( 19016006 )
2008
22
Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model. ( 17488636 )
2007
23
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. ( 15998707 )
2005
24
Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. ( 12107233 )
2002
25
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. ( 10869238 )
2000
26
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. ( 9171836 )
1997
27
Furosemide and dDAVP for the treatment of pseudohypoaldosteronism type II. ( 9492109 )
1997
28
Syndrome of hypertension and hyperkalemia with normal GFR (Gordon's syndrome: pseudohypoaldosteronism type II). ( 8143511 )
1993
29
Pseudohypoaldosteronism type II: proximal renal tubular acidosis and dDAVP-sensitive renal hyperkalemia. ( 3777034 )
1986

Variations for Pseudohypoaldosteronism, Type Iia

ClinVar genetic disease variations for Pseudohypoaldosteronism, Type Iia:

6 (show top 50) (show all 522)
# Gene Variation Type Significance SNP ID Assembly Location
1 CUL3 NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly) single nucleotide variant Pathogenic rs199469656 GRCh37 Chromosome 2, 225368508: 225368508
2 CUL3 NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly) single nucleotide variant Pathogenic rs199469656 GRCh38 Chromosome 2, 224503791: 224503791
3 KLHL3 NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys) single nucleotide variant Pathogenic rs199469639 GRCh37 Chromosome 5, 136975605: 136975605
4 KLHL3 NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys) single nucleotide variant Pathogenic rs199469639 GRCh38 Chromosome 5, 137639916: 137639916
5 KLHL3 NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu) single nucleotide variant Pathogenic rs199469641 GRCh37 Chromosome 5, 136973075: 136973075
6 KLHL3 NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu) single nucleotide variant Pathogenic rs199469641 GRCh38 Chromosome 5, 137637386: 137637386
7 KLHL3 NM_017415.2(KLHL3): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs199469636 GRCh37 Chromosome 5, 136963994: 136963994
8 KLHL3 NM_017415.2(KLHL3): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs199469636 GRCh38 Chromosome 5, 137628305: 137628305
9 KLHL3 NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs199469638 GRCh37 Chromosome 5, 136997639: 136997639
10 KLHL3 NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs199469638 GRCh38 Chromosome 5, 137661950: 137661950
11 KLHL3 NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile) single nucleotide variant Pathogenic rs199469640 GRCh37 Chromosome 5, 136975563: 136975563
12 KLHL3 NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile) single nucleotide variant Pathogenic rs199469640 GRCh38 Chromosome 5, 137639874: 137639874
13 KLHL3 NM_017415.2(KLHL3): c.1670A> G (p.Tyr557Cys) single nucleotide variant Pathogenic rs199469645 GRCh37 Chromosome 5, 136961507: 136961507
14 KLHL3 NM_017415.2(KLHL3): c.1670A> G (p.Tyr557Cys) single nucleotide variant Pathogenic rs199469645 GRCh38 Chromosome 5, 137625818: 137625818
15 KLHL3 NM_017415.2(KLHL3): c.1582C> T (p.Arg528Cys) single nucleotide variant Pathogenic rs199469635 GRCh37 Chromosome 5, 136963995: 136963995
16 KLHL3 NM_017415.2(KLHL3): c.1582C> T (p.Arg528Cys) single nucleotide variant Pathogenic rs199469635 GRCh38 Chromosome 5, 137628306: 137628306
17 KLHL3 NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn) single nucleotide variant Pathogenic rs199469632 GRCh37 Chromosome 5, 136973006: 136973006
18 KLHL3 NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn) single nucleotide variant Pathogenic rs199469632 GRCh38 Chromosome 5, 137637317: 137637317
19 WNK1 NM_018979.3(WNK1): c.3516A> G (p.Ile1172Met) single nucleotide variant Likely benign rs150532648 GRCh37 Chromosome 12, 992587: 992587
20 WNK1 NM_018979.3(WNK1): c.3516A> G (p.Ile1172Met) single nucleotide variant Likely benign rs150532648 GRCh38 Chromosome 12, 883421: 883421
21 WNK4 NM_032387.4(WNK4): c.2476G> A (p.Gly826Ser) single nucleotide variant Likely benign rs190384194 GRCh37 Chromosome 17, 40946915: 40946915
22 WNK4 NM_032387.4(WNK4): c.2476G> A (p.Gly826Ser) single nucleotide variant Likely benign rs190384194 GRCh38 Chromosome 17, 42794897: 42794897
23 CUL3 NM_003590.4(CUL3): c.1207-12T> G single nucleotide variant Pathogenic rs199469651 GRCh37 Chromosome 2, 225368551: 225368551
24 CUL3 NM_003590.4(CUL3): c.1207-12T> G single nucleotide variant Pathogenic rs199469651 GRCh38 Chromosome 2, 224503834: 224503834
25 CUL3 NM_003590.4(CUL3): c.1207-1G> A single nucleotide variant Pathogenic rs199469654 GRCh37 Chromosome 2, 225368540: 225368540
26 CUL3 NM_003590.4(CUL3): c.1207-1G> A single nucleotide variant Pathogenic rs199469654 GRCh38 Chromosome 2, 224503823: 224503823
27 CUL3 NM_003590.4(CUL3): c.1207-26A> G single nucleotide variant Pathogenic rs199469650 GRCh37 Chromosome 2, 225368565: 225368565
28 CUL3 NM_003590.4(CUL3): c.1207-26A> G single nucleotide variant Pathogenic rs199469650 GRCh38 Chromosome 2, 224503848: 224503848
29 CUL3 NM_003590.4(CUL3): c.1207-28T> G single nucleotide variant Pathogenic rs199469649 GRCh37 Chromosome 2, 225368567: 225368567
30 CUL3 NM_003590.4(CUL3): c.1207-28T> G single nucleotide variant Pathogenic rs199469649 GRCh38 Chromosome 2, 224503850: 224503850
31 CUL3 NM_003590.4(CUL3): c.1207-3C> T single nucleotide variant Pathogenic rs199469653 GRCh37 Chromosome 2, 225368542: 225368542
32 CUL3 NM_003590.4(CUL3): c.1207-3C> T single nucleotide variant Pathogenic rs199469653 GRCh38 Chromosome 2, 224503825: 224503825
33 CUL3 NM_003590.4(CUL3): c.1207-5T> A single nucleotide variant Pathogenic rs199469652 GRCh37 Chromosome 2, 225368544: 225368544
34 CUL3 NM_003590.4(CUL3): c.1207-5T> A single nucleotide variant Pathogenic rs199469652 GRCh38 Chromosome 2, 224503827: 224503827
35 CUL3 NM_003590.4(CUL3): c.1236G> A (p.Leu412=) single nucleotide variant Pathogenic rs199469655 GRCh37 Chromosome 2, 225368510: 225368510
36 CUL3 NM_003590.4(CUL3): c.1236G> A (p.Leu412=) single nucleotide variant Pathogenic rs199469655 GRCh38 Chromosome 2, 224503793: 224503793
37 CUL3 NM_003590.4(CUL3): c.1376A> G (p.Lys459Arg) single nucleotide variant Pathogenic rs199469658 GRCh37 Chromosome 2, 225368370: 225368370
38 CUL3 NM_003590.4(CUL3): c.1376A> G (p.Lys459Arg) single nucleotide variant Pathogenic rs199469658 GRCh38 Chromosome 2, 224503653: 224503653
39 CUL3 NM_003590.4(CUL3): c.1376_1377+4delAGGTAA deletion Pathogenic rs199469657 GRCh37 Chromosome 2, 225368365: 225368370
40 CUL3 NM_003590.4(CUL3): c.1376_1377+4delAGGTAA deletion Pathogenic rs199469657 GRCh38 Chromosome 2, 224503648: 224503653
41 CUL3 NM_003590.4(CUL3): c.1376_1377insG (p.Thr460Aspfs) insertion Pathogenic rs199469659 GRCh37 Chromosome 2, 225368369: 225368369
42 CUL3 NM_003590.4(CUL3): c.1376_1377insG (p.Thr460Aspfs) insertion Pathogenic rs199469659 GRCh38 Chromosome 2, 224503652: 224503652
43 CUL3 NM_003590.4(CUL3): c.1377+1G> C single nucleotide variant Pathogenic rs199469660 GRCh37 Chromosome 2, 225368368: 225368368
44 CUL3 NM_003590.4(CUL3): c.1377+1G> C single nucleotide variant Pathogenic rs199469660 GRCh38 Chromosome 2, 224503651: 224503651
45 CUL3 NM_003590.4(CUL3): c.1377+3A> G single nucleotide variant Pathogenic rs199469661 GRCh37 Chromosome 2, 225368366: 225368366
46 CUL3 NM_003590.4(CUL3): c.1377+3A> G single nucleotide variant Pathogenic rs199469661 GRCh38 Chromosome 2, 224503649: 224503649
47 KLHL3 NM_017415.2(KLHL3): c.1410G> A (p.Trp470Ter) single nucleotide variant Pathogenic rs199469644 GRCh37 Chromosome 5, 136969766: 136969766
48 KLHL3 NM_017415.2(KLHL3): c.1410G> A (p.Trp470Ter) single nucleotide variant Pathogenic rs199469644 GRCh38 Chromosome 5, 137634077: 137634077
49 KLHL3 NM_017415.2(KLHL3): c.721delC (p.Leu241Phefs) deletion Pathogenic rs199469647 GRCh37 Chromosome 5, 136997636: 136997636
50 KLHL3 NM_017415.2(KLHL3): c.721delC (p.Leu241Phefs) deletion Pathogenic rs199469647 GRCh38 Chromosome 5, 137661947: 137661947

Expression for Pseudohypoaldosteronism, Type Iia

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

Pathways for Pseudohypoaldosteronism, Type Iia

GO Terms for Pseudohypoaldosteronism, Type Iia

Cellular components related to Pseudohypoaldosteronism, Type Iia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Cul3-RING ubiquitin ligase complex GO:0031463 8.62 CUL3 KLHL3

Biological processes related to Pseudohypoaldosteronism, Type Iia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.16 CUL3 KLHL3
2 post-translational protein modification GO:0043687 8.96 CUL3 KLHL3
3 ubiquitin-dependent protein catabolic process GO:0006511 8.62 CUL3 KLHL3

Sources for Pseudohypoaldosteronism, Type Iia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
31 HMDB
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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