MCID: PSD092
MIFTS: 36

Pseudohypoaldosteronism, Type Iie malady

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

Aliases & Classifications for Pseudohypoaldosteronism, Type Iie

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Aliases & Descriptions for Pseudohypoaldosteronism, Type Iie:

Name: Pseudohypoaldosteronism, Type Iie 52 12 68
Pseudohypoaldosteronism Type 2 23 48 24 25 54
Phaii 23 24 25 54
Pha2 23 48 24 54
Gordon Hyperkalemia-Hypertension Syndrome 48 25 54
Pseudohypoaldosteronism Type Ii 23 24 25
Familial Hyperkalemic Hypertension 25 54
Pseudohypoaldosteronism 2e 70 27
Chloride Shunt Syndrome 48 54
Gordon's Syndrome 25 27
Gordon Syndrome 48 24
Pha2e 54 70
Arthrogryposis Multiplex Congenita, Distal, Type Iia 68
Hyperkalemia-Hypertension Syndrome, Gordon Type 54
Hyperpotassemia and Hypertension, Familial 68
Hyperpotassemia and Hypertension Familial 48
Familial Hyperpotassemia and Hypertension 25
 
Camptodactyly, Cleft Palate, and Clubfoot 48
Mineralocorticoid Resistant Hyperkalemia 54
Familial Hyperkalemia and Hypertension 24
Familial Hypertensive Hyperkalemia 25
Familial Hyperkalemiahypertension 23
Pseudohypoaldosteronism, Type Iid 68
Pseudohypoaldosteronism, Type Ii 68
Pseudohypoaldosteronism Type Iie 24
Pseudohypoaldosteronism Type 2e 54
Distal Arthrogryposis Type 3 48
Arthrogryposis Distal Type 3 48
Spitzer-Weinstein Syndrome 54
Hypertensive Hyperkalemia 54
Gordon’s Syndrome 23
Fhht 25
Da3 48

Characteristics:

Orphanet epidemiological data:

54
pha2e:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)
pseudohypoaldosteronism type 2:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: adult

HPO:

64
pseudohypoaldosteronism, type iie:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance of the disorder is high...


Classifications:



External Ids:

OMIM52 614496
UMLS via Orphanet69 C1449844
ICD10 via Orphanet31 I15.1
MedGen37 C3469606
MeSH39 D011546

Summaries for Pseudohypoaldosteronism, Type Iie

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NIH Rare Diseases:48 Psuedohypoaldosteronism type 2 is an inborn error of metabolism. It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis. It is caused by mutations in the WNK1 or WNK4 gene. Treatment may involve dietary restriction of sodium and hydrochlorothiazide. Last updated: 12/2/2011

MalaCards based summary: Pseudohypoaldosteronism, Type Iie, also known as pseudohypoaldosteronism type 2, is related to pseudohypoaldosteronism, type iia and pseudohypoaldosteronism, type iid, and has symptoms including hypertension, hyperkalemia and flexion contracture. An important gene associated with Pseudohypoaldosteronism, Type Iie is CUL3 (Cullin 3). Affiliated tissues include kidney, and related mouse phenotypes are Increased cell death HMECs cells and Synthetic lethal with c-Myc after tamoxifen stimulation.

UniProtKB/Swiss-Prot:70 Pseudohypoaldosteronism 2E: An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics.

Genetics Home Reference:25 Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys.

Description from OMIM:52 614496

GeneReviews for NBK65707

Related Diseases for Pseudohypoaldosteronism, Type Iie

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Graphical network of diseases related to Pseudohypoaldosteronism, Type Iie:



Diseases related to pseudohypoaldosteronism, type iie

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iie

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Symptoms by clinical synopsis from OMIM:

614496

Clinical features from OMIM:

614496

Human phenotypes related to Pseudohypoaldosteronism, Type Iie:

 64 54 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension64 54 hallmark (90%) Very frequent (99-80%) HP:0000822
2 hyperkalemia64 54 hallmark (90%) Very frequent (99-80%) HP:0002153
3 flexion contracture64 typical (50%) HP:0001371
4 nausea and vomiting64 54 typical (50%) Frequent (79-30%) HP:0002017
5 abnormality of dental enamel64 54 occasional (7.5%) Occasional (29-5%) HP:0000682
6 muscle weakness64 54 occasional (7.5%) Occasional (29-5%) HP:0001324
7 short stature64 54 occasional (7.5%) Occasional (29-5%) HP:0004322
8 metabolic acidosis64 HP:0001942
9 pseudohypoaldosteronism64 HP:0008242
10 hyperchloremia64 HP:0011423
11 abnormality of the teeth54 Occasional (29-5%)
12 growth delay54 Occasional (29-5%)
13 periodic paralysis54 Occasional (29-5%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00103-A-09.2CUL3, KLHL3, WNK4
2GR00215-A9.1CUL3, KLHL3

Drugs & Therapeutics for Pseudohypoaldosteronism, Type Iie

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP)RecruitingNCT01238250

Search NIH Clinical Center for Pseudohypoaldosteronism, Type Iie

Genetic Tests for Pseudohypoaldosteronism, Type Iie

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Genetic tests related to Pseudohypoaldosteronism, Type Iie:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 2e27
2 Pseudohypoaldosteronism, Type 227
3 Gordon's Syndrome27
4 Pseudohypoaldosteronism Type Ii24 WNK4
5 Pseudohypoaldosteronism Type Iie24 CUL3

Anatomical Context for Pseudohypoaldosteronism, Type Iie

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MalaCards organs/tissues related to Pseudohypoaldosteronism, Type Iie:

36
Kidney

Publications for Pseudohypoaldosteronism, Type Iie

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Variations for Pseudohypoaldosteronism, Type Iie

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UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism, Type Iie:

70
id Symbol AA change Variation ID SNP ID
1CUL3p.Asp413GlyVAR_067532rs199469656
2CUL3p.Lys459ArgVAR_067533rs199469658

Clinvar genetic disease variations for Pseudohypoaldosteronism, Type Iie:

5 (show all 50)
id Gene Variation Type Significance SNP ID Assembly Location
1CUL3NM_003590.4(CUL3): c.1207-12T> GSNVPathogenicrs199469651GRCh37Chr 2, 225368551: 225368551
2CUL3NM_003590.4(CUL3): c.1207-1G> ASNVPathogenicrs199469654GRCh37Chr 2, 225368540: 225368540
3CUL3NM_003590.4(CUL3): c.1207-26A> GSNVPathogenicrs199469650GRCh37Chr 2, 225368565: 225368565
4CUL3NM_003590.4(CUL3): c.1207-28T> GSNVPathogenicrs199469649GRCh37Chr 2, 225368567: 225368567
5CUL3NM_003590.4(CUL3): c.1207-3C> TSNVPathogenicrs199469653GRCh37Chr 2, 225368542: 225368542
6CUL3NM_003590.4(CUL3): c.1207-5T> ASNVPathogenicrs199469652GRCh37Chr 2, 225368544: 225368544
7CUL3NM_003590.4(CUL3): c.1236G> A (p.Leu412=)SNVPathogenicrs199469655GRCh37Chr 2, 225368510: 225368510
8CUL3NM_003590.4(CUL3): c.1376A> G (p.Lys459Arg)SNVPathogenicrs199469658GRCh37Chr 2, 225368370: 225368370
9CUL3NM_003590.4(CUL3): c.1376_1377+4deldeletionPathogenicrs199469657GRCh37Chr 2, 225368365: 225368370
10CUL3NM_003590.4(CUL3): c.1377dupG (p.Thr460Aspfs)duplicationPathogenicrs199469659GRCh37Chr 2, 225368369: 225368369
11CUL3NM_003590.4(CUL3): c.1377+1G> CSNVPathogenicrs199469660GRCh37Chr 2, 225368368: 225368368
12CUL3NM_003590.4(CUL3): c.1377+3A> GSNVPathogenicrs199469661GRCh37Chr 2, 225368366: 225368366
13KLHL3NM_017415.2(KLHL3): c.1410G> A (p.Trp470Ter)SNVPathogenicrs199469644GRCh37Chr 5, 136969766: 136969766
14KLHL3NM_017415.2(KLHL3): c.721delC (p.Leu241Phefs)deletionPathogenicrs199469647GRCh37Chr 5, 136997636: 136997636
15KLHL3NM_017415.2(KLHL3): c.753+1G> ASNVPathogenicrs199469648GRCh37Chr 5, 136997603: 136997603
16KLHL3NM_017415.2(KLHL3): c.1019C> T (p.Ala340Val)SNVPathogenicrs199469628GRCh37Chr 5, 136975551: 136975551
17KLHL3NM_017415.2(KLHL3): c.1480G> A (p.Ala494Thr)SNVPathogenicrs199469633GRCh37Chr 5, 136964097: 136964097
18KLHL3NM_017415.2(KLHL3): c.230C> A (p.Ala77Glu)SNVPathogenicrs199469623GRCh37Chr 5, 137045450: 137045450
19KLHL3NM_017415.2(KLHL3): c.491G> T (p.Cys164Phe)SNVPathogenicrs199469626GRCh37Chr 5, 137028009: 137028009
20KLHL3NM_017415.2(KLHL3): c.254A> C (p.Glu85Ala)SNVPathogenicrs199469625GRCh37Chr 5, 137034085: 137034085
21KLHL3NM_017415.2(KLHL3): c.1160T> C (p.Leu387Pro)SNVPathogenicrs199469630GRCh37Chr 5, 136974701: 136974701
22KLHL3NM_017415.2(KLHL3): c.1280T> C (p.Met427Thr)SNVPathogenicrs199469642GRCh37Chr 5, 136973024: 136973024
23KLHL3NM_017415.2(KLHL3): c.232A> G (p.Met78Val)SNVPathogenicrs199469624GRCh37Chr 5, 137045448: 137045448
24KLHL3NM_017415.2(KLHL3): c.1501C> A (p.Pro501Thr)SNVPathogenicrs199469634GRCh37Chr 5, 136964076: 136964076
25KLHL3NM_017415.2(KLHL3): c.430C> T (p.Gln144Ter)SNVPathogenicrs199469637GRCh37Chr 5, 137028070: 137028070
26KLHL3NM_017415.2(KLHL3): c.926A> G (p.Gln309Arg)SNVPathogenicrs199469627GRCh37Chr 5, 136975644: 136975644
27KLHL3NM_017415.2(KLHL3): c.1151G> A (p.Arg384Gln)SNVPathogenicrs199469629GRCh37Chr 5, 136974710: 136974710
28KLHL3NM_017415.2(KLHL3): c.1292G> A (p.Arg431Gln)SNVPathogenicrs199469643GRCh37Chr 5, 136973012: 136973012
29KLHL3NM_017415.2(KLHL3): c.1723C> T (p.Arg575Trp)SNVPathogenicrs199469646GRCh37Chr 5, 136961454: 136961454
30KLHL3NM_017415.2(KLHL3): c.1295G> A (p.Ser432Asn)SNVPathogenicrs199469631GRCh37Chr 5, 136973009: 136973009
31PIEZO2NM_022068.3(PIEZO2): c.8057G> A (p.Arg2686His)SNVPathogenicrs587777450GRCh38Chr 18, 10671729: 10671729
32CUL3CUL3, IVS8, A-G, -26SNVPathogenicChr na, -1: -1
33CUL3CUL3, IVS8, T-G, -28SNVPathogenicChr na, -1: -1
34CUL3CUL3, IVS8, T-G, -12SNVPathogenicChr na, -1: -1
35CUL3CUL3, IVS8, T-A, -5SNVPathogenicChr na, -1: -1
36CUL3CUL3, IVS8, C-T, -3SNVPathogenicChr na, -1: -1
37CUL3CUL3, IVS8, G-A, -1SNVPathogenicChr na, -1: -1
38CUL3NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly)SNVPathogenicrs199469656GRCh37Chr 2, 225368508: 225368508
39KLHL3KLHL3, TRP470TERSNVPathogenicChr na, -1: -1
40KLHL3NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys)SNVPathogenicrs199469639GRCh37Chr 5, 136975605: 136975605
41KLHL3NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu)SNVPathogenicrs199469641GRCh37Chr 5, 136973075: 136973075
42KLHL3NM_017415.2(KLHL3): c.1583G> A (p.Arg528His)SNVPathogenicrs199469636GRCh37Chr 5, 136963994: 136963994
43KLHL3NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter)SNVPathogenicrs199469638GRCh37Chr 5, 136997639: 136997639
44KLHL3NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile)SNVPathogenicrs199469640GRCh37Chr 5, 136975563: 136975563
45KLHL3NM_017415.2(KLHL3): c.1670A> G (p.Tyr557Cys)SNVPathogenicrs199469645GRCh37Chr 5, 136961507: 136961507
46KLHL3NM_017415.2(KLHL3): c.1582C> T (p.Arg528Cys)SNVPathogenicrs199469635GRCh37Chr 5, 136963995: 136963995
47KLHL3NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn)SNVPathogenicrs199469632GRCh37Chr 5, 136973006: 136973006
48KLHL3NM_017415.2(KLHL3): c.1193C> T (p.Ala398Val)SNVPathogenicrs387907155GRCh37Chr 5, 136974668: 136974668
49KLHL3KLHL3, ASN529LYSSNVPathogenicChr na, -1: -1
50KLHL3NM_017415.2(KLHL3): c.1277C> T (p.Pro426Leu)SNVPathogenicrs387907156GRCh37Chr 5, 136973027: 136973027

Expression for genes affiliated with Pseudohypoaldosteronism, Type Iie

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

Pathways for genes affiliated with Pseudohypoaldosteronism, Type Iie

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GO Terms for genes affiliated with Pseudohypoaldosteronism, Type Iie

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

idNameGO IDScoreTop Affiliating Genes
1Cul3-RING ubiquitin ligase complexGO:00314639.1CUL3, KLHL3

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

idNameGO IDScoreTop Affiliating Genes
1distal tubule morphogenesisGO:00721569.8KLHL3, WNK4
2ion homeostasisGO:00508019.8KLHL3, WNK4
3protein ubiquitinationGO:00165679.7CUL3, KLHL3
4protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:00427879.2CUL3, KLHL3
5renal sodium ion absorptionGO:00702949.1KLHL3, WNK4

Molecular functions related to Pseudohypoaldosteronism, Type Iie according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-protein transferase activityGO:00048429.1CUL3, KLHL3

Sources for Pseudohypoaldosteronism, Type Iie

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet