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PHA2A
MCID: PSD090
MIFTS: 32

Pseudohypoaldosteronism, Type Iia (PHA2A)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Pseudohypoaldosteronism, Type Iia

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MalaCards integrated aliases for Pseudohypoaldosteronism, Type Iia:

Name: Pseudohypoaldosteronism, Type Iia 57 13 70
Pseudohypoaldosteronism Type 2a 58 29 6
Pha2a 57 58
Hyperpotassemia and Hypertension, Familial 57
Gordon Hyperkalemia-Hypertension Syndrome 57
Hypertensive Hyperkalemia, Familial 57
Pseudohypoaldosteronism, Type Ii 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
responsive to thiazide diuretics


HPO:

31
pseudohypoaldosteronism, type iia:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Cardiovascular diseases Nephrological diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases


External Ids:

OMIM® 57 145260
OMIM Phenotypic Series 57 PS145260
ICD10 via Orphanet 33 I15.1
UMLS via Orphanet 71 C1840389
Orphanet 58 ORPHA88938
MedGen 41 C1840389
UMLS 70 C1449844 C1840389
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Summaries for Pseudohypoaldosteronism, Type Iia

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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) (Updated 05-Apr-2021)

MalaCards based summary : Pseudohypoaldosteronism, Type Iia, also known as pseudohypoaldosteronism type 2a, is related to pseudohypoaldosteronism, type iie and pseudohypoaldosteronism. An important gene associated with Pseudohypoaldosteronism, Type Iia is CUL3 (Cullin 3). Related phenotypes are hypertension and hyperkalemia

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Related Diseases for Pseudohypoaldosteronism, Type Iia

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Diseases in the Pseudohypoaldosteronism family:

Pseudohypoaldosteronism, Type Iia Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Recessive Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Type Iic Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Type Iie Transient Pseudohypoaldosteronism

Diseases related to Pseudohypoaldosteronism, Type Iia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type iie 31.7 KLHL3 CUL3
2 pseudohypoaldosteronism 30.7 PHA2A KLHL3 CUL3
3 familial hypertension 9.6 KLHL3 CUL3
4 arthrogryposis, distal, type 3 9.6 KLHL3 CUL3
5 metabolic acidosis 9.5 KLHL3 CUL3
6 distal arthrogryposis 9.4 KLHL3 CUL3

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism, Type Iia:



Diseases related to Pseudohypoaldosteronism, Type Iia
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Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iia

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Human phenotypes related to Pseudohypoaldosteronism, Type Iia:

31
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 hyperkalemia 31 HP:0002153
3 periodic hyperkalemic paralysis 31 HP:0007215
4 hyperchloremic acidosis 31 HP:0001995
5 pseudohypoaldosteronism 31 HP:0008242

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
hyperkalemia

Muscle Soft Tissue:
muscle aches, intermittent

Cardiovascular Vascular:
hypertension, mild

Clinical features from OMIM®:

145260 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with c-Myc after tamoxifen stimulation GR00215-A 8.62 CUL3 KLHL3
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Drugs & Therapeutics for Pseudohypoaldosteronism, Type Iia

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

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Genetic Tests for Pseudohypoaldosteronism, Type Iia

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Genetic tests related to Pseudohypoaldosteronism, Type Iia:

# Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 2a 29
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Anatomical Context for Pseudohypoaldosteronism, Type Iia

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Publications for Pseudohypoaldosteronism, Type Iia

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Articles related to Pseudohypoaldosteronism, Type Iia:

(show all 23)
# Title Authors PMID Year
1
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. 57
22266938 2012
2
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. 57
9171836 1997
3
Neonatal presentation of Gordon syndrome. 57
8859273 1996
4
Heterogeneous hypertension. 57
7550315 1995
5
Pseudohypoaldosteronism: case report and discussion of the syndrome. 57
1788991 1991
6
Increased chloride reabsorption as an inherited renal tubular defect in familial type II pseudohypoaldosteronism. 57
1988833 1991
7
Inheritance of mineralocorticoid effector abnormalities of human mononuclear leucocytes in families with pseudohypoaldosteronism. 57
2627754 1989
8
Hyperkalemic periodic paralysis in Gordon's syndrome: a possible defect in atrial natriuretic peptide function. 57
2529811 1989
9
A new Australian kindred with the syndrome of hypertension and hyperkalaemia has dysregulation of atrial natriuretic factor. 57
2977171 1988
10
Familiar hyperkalaemic acidosis. 57
3885297 1985
11
Severe hypertension, hyperkalemia, and renal tubular acidosis responding to dietary sodium restriction. 57
7063287 1982
12
Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): role of increased renal chloride reabsorption. 57
7026872 1981
13
Familial hyperkalaemia responsive to benzothiadiazine diuretic. 57
6103235 1980
14
Hypertension and hyperkalaemia responding to bendrofluazide. 57
504550 1979
15
Familial hyperkalemia, hypertension, and hyporeninemia with normal aldosterone levels. A tubular defect in potassium handling. 57
637641 1978
16
Familial dominant pseudohypoaldosteronism. 57
74536 1978
17
[Familial pseudohypoaldosteronism (apropos of 5 cases)]. 57
851368 1977
18
Hyperkalemia, acidosis, and short stature associated with a defect in renal potassium excretion. 57
4431495 1974
19
Short stature, hyperkalemia and acidosis: A defect in renal transport of potassium. 57
4792041 1973
20
Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction. 57
5490655 1970
21
[Antiviral treatment of chronic B hepatitis; 2010 - therapeutic recommendations]. 61
20842822 2010
22
Phenotypic and genetic heterogeneity of familial hyperkalaemic hypertension (Gordon syndrome). 61
11903313 2001
23
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. 61
10869238 2000
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Variations for Pseudohypoaldosteronism, Type Iia

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ClinVar genetic disease variations for Pseudohypoaldosteronism, Type Iia:

6 (show top 50) (show all 67)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CUL3 NM_003590.5(CUL3):c.1207-12T>G SNV Pathogenic 100515 rs199469651 GRCh37: 2:225368551-225368551
GRCh38: 2:224503834-224503834
2 CUL3 NM_003590.5(CUL3):c.1207-1G>A SNV Pathogenic 100516 rs199469654 GRCh37: 2:225368540-225368540
GRCh38: 2:224503823-224503823
3 CUL3 NM_003590.5(CUL3):c.1207-26A>G SNV Pathogenic 100517 rs199469650 GRCh37: 2:225368565-225368565
GRCh38: 2:224503848-224503848
4 CUL3 NM_003590.5(CUL3):c.1207-28T>G SNV Pathogenic 100518 rs199469649 GRCh37: 2:225368567-225368567
GRCh38: 2:224503850-224503850
5 CUL3 NM_003590.5(CUL3):c.1207-3C>T SNV Pathogenic 100519 rs199469653 GRCh37: 2:225368542-225368542
GRCh38: 2:224503825-224503825
6 CUL3 NM_003590.5(CUL3):c.1207-5T>A SNV Pathogenic 100520 rs199469652 GRCh37: 2:225368544-225368544
GRCh38: 2:224503827-224503827
7 CUL3 NM_003590.5(CUL3):c.1236G>A (p.Leu412=) SNV Pathogenic 100521 rs199469655 GRCh37: 2:225368510-225368510
GRCh38: 2:224503793-224503793
8 CUL3 NM_003590.5(CUL3):c.1238A>G (p.Asp413Gly) SNV Pathogenic 30323 rs199469656 GRCh37: 2:225368508-225368508
GRCh38: 2:224503791-224503791
9 CUL3 NM_003590.5(CUL3):c.1376A>G (p.Lys459Arg) SNV Pathogenic 100522 rs199469658 GRCh37: 2:225368370-225368370
GRCh38: 2:224503653-224503653
10 CUL3 NM_003590.5(CUL3):c.1376_1377+4del Deletion Pathogenic 100523 rs199469657 GRCh37: 2:225368365-225368370
GRCh38: 2:224503648-224503653
11 CUL3 NM_003590.4(CUL3):c.1376_1377insG (p.Thr460Aspfs) Duplication Pathogenic 100524 rs199469659 GRCh37: 2:225368367-225368368
GRCh38: 2:224503650-224503651
12 CUL3 NM_003590.5(CUL3):c.1377+1G>C SNV Pathogenic 100525 rs199469660 GRCh37: 2:225368368-225368368
GRCh38: 2:224503651-224503651
13 CUL3 NM_003590.5(CUL3):c.1377+3A>G SNV Pathogenic 100526 rs199469661 GRCh37: 2:225368366-225368366
GRCh38: 2:224503649-224503649
14 KLHL3 NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter) SNV Pathogenic 100527 rs199469644 GRCh37: 5:136969766-136969766
GRCh38: 5:137634077-137634077
15 KLHL3 NM_017415.3(KLHL3):c.721del (p.Leu241fs) Deletion Pathogenic 100528 rs199469647 GRCh37: 5:136997636-136997636
GRCh38: 5:137661947-137661947
16 KLHL3 NM_017415.3(KLHL3):c.753+1G>A SNV Pathogenic 100529 rs199469648 GRCh37: 5:136997603-136997603
GRCh38: 5:137661914-137661914
17 KLHL3 NM_017415.3(KLHL3):c.1019C>T (p.Ala340Val) SNV Pathogenic 100530 rs199469628 GRCh37: 5:136975551-136975551
GRCh38: 5:137639862-137639862
18 KLHL3 NM_017415.3(KLHL3):c.1480G>A (p.Ala494Thr) SNV Pathogenic 100531 rs199469633 GRCh37: 5:136964097-136964097
GRCh38: 5:137628408-137628408
19 KLHL3 NM_017415.3(KLHL3):c.230C>A (p.Ala77Glu) SNV Pathogenic 100532 rs199469623 GRCh37: 5:137045450-137045450
GRCh38: 5:137709761-137709761
20 KLHL3 NM_017415.3(KLHL3):c.491G>T (p.Cys164Phe) SNV Pathogenic 100533 rs199469626 GRCh37: 5:137028009-137028009
GRCh38: 5:137692320-137692320
21 KLHL3 NM_017415.3(KLHL3):c.254A>C (p.Glu85Ala) SNV Pathogenic 100534 rs199469625 GRCh37: 5:137034085-137034085
GRCh38: 5:137698396-137698396
22 KLHL3 NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys) SNV Pathogenic 30516 rs199469639 GRCh37: 5:136975605-136975605
GRCh38: 5:137639916-137639916
23 KLHL3 NM_017415.3(KLHL3):c.1160T>C (p.Leu387Pro) SNV Pathogenic 100536 rs199469630 GRCh37: 5:136974701-136974701
GRCh38: 5:137639012-137639012
24 KLHL3 NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr) SNV Pathogenic 100537 rs199469642 GRCh37: 5:136973024-136973024
GRCh38: 5:137637335-137637335
25 KLHL3 NM_017415.3(KLHL3):c.232A>G (p.Met78Val) SNV Pathogenic 100538 rs199469624 GRCh37: 5:137045448-137045448
GRCh38: 5:137709759-137709759
26 KLHL3 NM_017415.3(KLHL3):c.1501C>A (p.Pro501Thr) SNV Pathogenic 100539 rs199469634 GRCh37: 5:136964076-136964076
GRCh38: 5:137628387-137628387
27 KLHL3 NM_017415.3(KLHL3):c.430C>T (p.Gln144Ter) SNV Pathogenic 100540 rs199469637 GRCh37: 5:137028070-137028070
GRCh38: 5:137692381-137692381
28 KLHL3 NM_017415.3(KLHL3):c.926A>G (p.Gln309Arg) SNV Pathogenic 100541 rs199469627 GRCh37: 5:136975644-136975644
GRCh38: 5:137639955-137639955
29 KLHL3 NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter) SNV Pathogenic 30519 rs199469638 GRCh37: 5:136997639-136997639
GRCh38: 5:137661950-137661950
30 KLHL3 NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile) SNV Pathogenic 30520 rs199469640 GRCh37: 5:136975563-136975563
GRCh38: 5:137639874-137639874
31 KLHL3 NM_017415.3(KLHL3):c.1151G>A (p.Arg384Gln) SNV Pathogenic 100544 rs199469629 GRCh37: 5:136974710-136974710
GRCh38: 5:137639021-137639021
32 KLHL3 NM_017415.3(KLHL3):c.1292G>A (p.Arg431Gln) SNV Pathogenic 100545 rs199469643 GRCh37: 5:136973012-136973012
GRCh38: 5:137637323-137637323
33 KLHL3 NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys) SNV Pathogenic 30522 rs199469635 GRCh37: 5:136963995-136963995
GRCh38: 5:137628306-137628306
34 KLHL3 NM_017415.3(KLHL3):c.1583G>A (p.Arg528His) SNV Pathogenic 30518 rs199469636 GRCh37: 5:136963994-136963994
GRCh38: 5:137628305-137628305
35 KLHL3 NM_017415.3(KLHL3):c.1723C>T (p.Arg575Trp) SNV Pathogenic 100548 rs199469646 GRCh37: 5:136961454-136961454
GRCh38: 5:137625765-137625765
36 KLHL3 NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu) SNV Pathogenic 30517 rs199469641 GRCh37: 5:136973075-136973075
GRCh38: 5:137637386-137637386
37 KLHL3 NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn) SNV Pathogenic 100550 rs199469631 GRCh37: 5:136973009-136973009
GRCh38: 5:137637320-137637320
38 KLHL3 NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn) SNV Pathogenic 30523 rs199469632 GRCh37: 5:136973006-136973006
GRCh38: 5:137637317-137637317
39 KLHL3 NM_017415.3(KLHL3):c.1670A>G (p.Tyr557Cys) SNV Pathogenic 30521 rs199469645 GRCh37: 5:136961507-136961507
GRCh38: 5:137625818-137625818
40 CUL3 NM_003590.5(CUL3):c.1377G>A (p.Lys459=) SNV Likely pathogenic 266041 rs886038765 GRCh37: 2:225368369-225368369
GRCh38: 2:224503652-224503652
41 WNK1 NM_018979.4(WNK1):c.-351dup Duplication Uncertain significance 310521 rs886049860 GRCh37: 12:862378-862379
GRCh38: 12:753212-753213
42 WNK1 NM_018979.4(WNK1):c.*2192_*2196dup Duplication Uncertain significance 306715 rs568163399 GRCh37: 12:1020147-1020148
GRCh38: 12:910981-910982
43 WNK1 NM_018979.4(WNK1):c.*628del Deletion Uncertain significance 306676 rs886048808 GRCh37: 12:1018575-1018575
GRCh38: 12:909409-909409
44 RAD52 , WNK1 NM_018979.4(WNK1):c.*2576_*2579dup Duplication Uncertain significance 306737 rs886048832 GRCh37: 12:1020533-1020534
GRCh38: 12:911367-911368
45 RAD52 , WNK1 NM_018979.4(WNK1):c.*2378_*2381dup Duplication Uncertain significance 306726 rs1399161251 GRCh37: 12:1020334-1020335
GRCh38: 12:911168-911169
46 WNK1 NM_018979.4(WNK1):c.*1347del Deletion Uncertain significance 306692 rs886048817 GRCh37: 12:1019300-1019300
GRCh38: 12:910134-910134
47 WNK1 NM_018979.4(WNK1):c.*1904_*1906CAC[5] Microsatellite Uncertain significance 306702 rs778502996 GRCh37: 12:1019862-1019864
GRCh38: 12:910696-910698
48 WNK1 NM_018979.4(WNK1):c.*772_*776del Deletion Uncertain significance 306683 rs886048815 GRCh37: 12:1018727-1018731
GRCh38: 12:909561-909565
49 WNK1 NM_018979.4(WNK1):c.-308G>T SNV Uncertain significance 310523 rs886049861 GRCh37: 12:862424-862424
GRCh38: 12:753258-753258
50 WNK1 NM_018979.4(WNK1):c.5370G>T (p.Gln1790His) SNV Uncertain significance 310834 rs773797682 GRCh37: 12:998311-998311
GRCh38: 12:889145-889145
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Expression for Pseudohypoaldosteronism, Type Iia

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

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GO Terms for Pseudohypoaldosteronism, Type Iia

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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 KLHL3 CUL3

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 KLHL3 CUL3
2 post-translational protein modification GO:0043687 8.96 KLHL3 CUL3
3 ubiquitin-dependent protein catabolic process GO:0006511 8.62 KLHL3 CUL3
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Sources for Pseudohypoaldosteronism, Type Iia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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