PHA2E
MCID: PSD092
MIFTS: 38

Pseudohypoaldosteronism, Type Iie (PHA2E) malady

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

Aliases & Classifications for Pseudohypoaldosteronism, Type Iie

Aliases & Descriptions for Pseudohypoaldosteronism, Type Iie:

Name: Pseudohypoaldosteronism, Type Iie 54 13 69
Pseudohypoaldosteronism Type 2 50 24 25 56
Phaii 23 24 25 56
Gordon Hyperkalemia-Hypertension Syndrome 50 25 56
Familial Hyperkalemic Hypertension 23 25 56
Pseudohypoaldosteronism Type Ii 23 24 25
Pha2 50 24 56
Pseudohypoaldosteronism 2e 66 29
Chloride Shunt Syndrome 50 56
Gordon's Syndrome 25 29
Gordon Syndrome 50 24
Pha2e 56 66
Arthrogryposis Multiplex Congenita, Distal, Type Iia 69
Hyperkalemia-Hypertension Syndrome, Gordon Type 56
Hyperpotassemia and Hypertension, Familial 69
Camptodactyly, Cleft Palate, and Clubfoot 50
Hyperpotassemia and Hypertension Familial 50
Familial Hyperpotassemia and Hypertension 25
Mineralocorticoid Resistant Hyperkalemia 56
Familial Hyperkalemia and Hypertension 24
Familial Hypertensive Hyperkalemia 25
Pseudohypoaldosteronism, Type Iid 69
Pseudohypoaldosteronism Type Iie 24
Pseudohypoaldosteronism, Type Ii 69
Pseudohypoaldosteronism Type 2e 56
Arthrogryposis Distal Type 3 50
Distal Arthrogryposis Type 3 50
Spitzer-Weinstein Syndrome 56
Hypertensive Hyperkalemia 56
Gordon’s Syndrome 23
Fhht 25
Da3 50

Characteristics:

Orphanet epidemiological data:

56
pseudohypoaldosteronism type 2
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: adult;
pseudohypoaldosteronism type 2e
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

HPO:

32
pseudohypoaldosteronism, type iie:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614496
UMLS via Orphanet 70 C1449844
ICD10 via Orphanet 34 I15.1
MedGen 40 C3469606
MeSH 42 D011546

Summaries for Pseudohypoaldosteronism, Type Iie

NIH Rare Diseases : 50 gordon syndrome is a rare, inherited type of distal arthrogryposis typically characterized by a combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot (abnormal bending inward of the foot), and less frequently, cleft palate. intelligence is usually normal. in some cases, additional abnormalities such as scoliosis or undescended testicles in males may be present. the range and severity of symptoms may vary from case to case. gordon syndrome is thought to be inherited in an autosomal dominant or x-linked dominant manner. the exact cause remains unknown. last updated: 12/5/2012

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 nausea and vomiting, muscle weakness and hypertension. An important gene associated with Pseudohypoaldosteronism, Type Iie is CUL3 (Cullin 3). The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotype is Increased cell death HMECs cells.

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.

UniProtKB/Swiss-Prot : 66 Pseudohypoaldosteronism 2E: An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics.

Description from OMIM: 614496
GeneReviews: NBK65707

Related Diseases for Pseudohypoaldosteronism, Type Iie

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



Diseases related to Pseudohypoaldosteronism, Type Iie

Symptoms & Phenotypes for Pseudohypoaldosteronism, Type Iie

Symptoms by clinical synopsis from OMIM:

614496

Clinical features from OMIM:

614496

Human phenotypes related to Pseudohypoaldosteronism, Type Iie:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 56 32 Frequent (79-30%) HP:0002017
2 muscle weakness 56 32 Occasional (29-5%) HP:0001324
3 hypertension 56 32 Very frequent (99-80%) HP:0000822
4 short stature 56 32 Occasional (29-5%) HP:0004322
5 abnormality of dental enamel 56 32 Occasional (29-5%) HP:0000682
6 hyperkalemia 56 32 Very frequent (99-80%) HP:0002153
7 periodic paralysis 56 32 Occasional (29-5%) HP:0003768
8 abnormality of the teeth 56 Occasional (29-5%)
9 growth delay 56 Occasional (29-5%)
10 metabolic acidosis 32 HP:0001942
11 hyperchloremic metabolic acidosis 32 HP:0004918
12 pseudohypoaldosteronism 32 HP:0008242
13 hyperchloremia 32 HP:0011423

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.8 CUL3 KLHL3 WNK4

Drugs & Therapeutics for Pseudohypoaldosteronism, Type Iie

Drugs for Pseudohypoaldosteronism, Type Iie (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalapril Approved, Vet_approved Phase 2 75847-73-3 5362032 40466924
2
Enalaprilat Approved Phase 2 76420-72-9 6917719
3
protease inhibitors Phase 2
4 Chelating Agents Phase 2
5 HIV Protease Inhibitors Phase 2
6 Angiotensin-Converting Enzyme Inhibitors Phase 2
7 Antihypertensive Agents Phase 2
8
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type I Completed NCT00004328 Phase 2
2 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
3 Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP) Recruiting NCT01238250

Search NIH Clinical Center for Pseudohypoaldosteronism, Type Iie

Genetic Tests for Pseudohypoaldosteronism, Type Iie

Genetic tests related to Pseudohypoaldosteronism, Type Iie:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 2e 29
2 Pseudohypoaldosteronism, Type 2 29
3 Gordon's Syndrome 29
4 Pseudohypoaldosteronism Type Ii 24 WNK4
5 Pseudohypoaldosteronism Type Iie 24 CUL3

Anatomical Context for Pseudohypoaldosteronism, Type Iie

MalaCards organs/tissues related to Pseudohypoaldosteronism, Type Iie:

39
Kidney

Publications for Pseudohypoaldosteronism, Type Iie

Variations for Pseudohypoaldosteronism, Type Iie

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

66
id Symbol AA change Variation ID SNP ID
1 CUL3 p.Asp413Gly VAR_067532 rs199469656
2 CUL3 p.Lys459Arg VAR_067533 rs199469658

ClinVar genetic disease variations for Pseudohypoaldosteronism, Type Iie:

6 (show all 48)
id Gene Variation Type Significance SNP ID Assembly Location
1 CUL3 CUL3, IVS8, A-G, -26 single nucleotide variant Pathogenic
2 CUL3 CUL3, IVS8, T-G, -28 single nucleotide variant Pathogenic
3 CUL3 CUL3, IVS8, T-G, -12 single nucleotide variant Pathogenic
4 CUL3 CUL3, IVS8, T-A, -5 single nucleotide variant Pathogenic
5 CUL3 CUL3, IVS8, C-T, -3 single nucleotide variant Pathogenic
6 CUL3 CUL3, IVS8, G-A, -1 single nucleotide variant Pathogenic
7 CUL3 NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly) single nucleotide variant Pathogenic rs199469656 GRCh37 Chromosome 2, 225368508: 225368508
8 KLHL3 NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys) single nucleotide variant Pathogenic rs199469639 GRCh37 Chromosome 5, 136975605: 136975605
9 KLHL3 NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu) single nucleotide variant Pathogenic rs199469641 GRCh37 Chromosome 5, 136973075: 136973075
10 KLHL3 NM_017415.2(KLHL3): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs199469636 GRCh37 Chromosome 5, 136963994: 136963994
11 KLHL3 NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs199469638 GRCh37 Chromosome 5, 136997639: 136997639
12 KLHL3 NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile) single nucleotide variant Pathogenic rs199469640 GRCh37 Chromosome 5, 136975563: 136975563
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.1582C> T (p.Arg528Cys) single nucleotide variant Pathogenic rs199469635 GRCh37 Chromosome 5, 136963995: 136963995
15 KLHL3 NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn) single nucleotide variant Pathogenic rs199469632 GRCh37 Chromosome 5, 136973006: 136973006
16 CUL3 NM_003590.4(CUL3): c.1207-12T> G single nucleotide variant Pathogenic rs199469651 GRCh37 Chromosome 2, 225368551: 225368551
17 CUL3 NM_003590.4(CUL3): c.1207-1G> A single nucleotide variant Pathogenic rs199469654 GRCh37 Chromosome 2, 225368540: 225368540
18 CUL3 NM_003590.4(CUL3): c.1207-26A> G single nucleotide variant Pathogenic rs199469650 GRCh37 Chromosome 2, 225368565: 225368565
19 CUL3 NM_003590.4(CUL3): c.1207-28T> G single nucleotide variant Pathogenic rs199469649 GRCh37 Chromosome 2, 225368567: 225368567
20 CUL3 NM_003590.4(CUL3): c.1207-3C> T single nucleotide variant Pathogenic rs199469653 GRCh37 Chromosome 2, 225368542: 225368542
21 CUL3 NM_003590.4(CUL3): c.1207-5T> A single nucleotide variant Pathogenic rs199469652 GRCh37 Chromosome 2, 225368544: 225368544
22 CUL3 NM_003590.4(CUL3): c.1236G> A (p.Leu412=) single nucleotide variant Pathogenic rs199469655 GRCh37 Chromosome 2, 225368510: 225368510
23 CUL3 NM_003590.4(CUL3): c.1376A> G (p.Lys459Arg) single nucleotide variant Pathogenic rs199469658 GRCh37 Chromosome 2, 225368370: 225368370
24 CUL3 NM_003590.4(CUL3): c.1376_1377+4delAGGTAA deletion Pathogenic rs199469657 GRCh37 Chromosome 2, 225368365: 225368370
25 CUL3 NM_003590.4(CUL3): c.1377dupG (p.Thr460Aspfs) duplication Pathogenic rs199469659 GRCh37 Chromosome 2, 225368369: 225368369
26 CUL3 NM_003590.4(CUL3): c.1377+1G> C single nucleotide variant Pathogenic rs199469660 GRCh37 Chromosome 2, 225368368: 225368368
27 CUL3 NM_003590.4(CUL3): c.1377+3A> G single nucleotide variant Pathogenic rs199469661 GRCh37 Chromosome 2, 225368366: 225368366
28 KLHL3 NM_017415.2(KLHL3): c.1410G> A (p.Trp470Ter) single nucleotide variant Pathogenic rs199469644 GRCh37 Chromosome 5, 136969766: 136969766
29 KLHL3 NM_017415.2(KLHL3): c.721delC (p.Leu241Phefs) deletion Pathogenic rs199469647 GRCh37 Chromosome 5, 136997636: 136997636
30 KLHL3 NM_017415.2(KLHL3): c.753+1G> A single nucleotide variant Pathogenic rs199469648 GRCh37 Chromosome 5, 136997603: 136997603
31 KLHL3 NM_017415.2(KLHL3): c.1019C> T (p.Ala340Val) single nucleotide variant Pathogenic rs199469628 GRCh37 Chromosome 5, 136975551: 136975551
32 KLHL3 NM_017415.2(KLHL3): c.1480G> A (p.Ala494Thr) single nucleotide variant Pathogenic rs199469633 GRCh37 Chromosome 5, 136964097: 136964097
33 KLHL3 NM_017415.2(KLHL3): c.230C> A (p.Ala77Glu) single nucleotide variant Pathogenic rs199469623 GRCh37 Chromosome 5, 137045450: 137045450
34 KLHL3 NM_017415.2(KLHL3): c.491G> T (p.Cys164Phe) single nucleotide variant Pathogenic rs199469626 GRCh37 Chromosome 5, 137028009: 137028009
35 KLHL3 NM_017415.2(KLHL3): c.254A> C (p.Glu85Ala) single nucleotide variant Pathogenic rs199469625 GRCh37 Chromosome 5, 137034085: 137034085
36 KLHL3 NM_017415.2(KLHL3): c.1160T> C (p.Leu387Pro) single nucleotide variant Pathogenic rs199469630 GRCh37 Chromosome 5, 136974701: 136974701
37 KLHL3 NM_017415.2(KLHL3): c.1280T> C (p.Met427Thr) single nucleotide variant Pathogenic rs199469642 GRCh37 Chromosome 5, 136973024: 136973024
38 KLHL3 NM_017415.2(KLHL3): c.232A> G (p.Met78Val) single nucleotide variant Pathogenic rs199469624 GRCh37 Chromosome 5, 137045448: 137045448
39 KLHL3 NM_017415.2(KLHL3): c.1501C> A (p.Pro501Thr) single nucleotide variant Pathogenic rs199469634 GRCh37 Chromosome 5, 136964076: 136964076
40 KLHL3 NM_017415.2(KLHL3): c.430C> T (p.Gln144Ter) single nucleotide variant Pathogenic rs199469637 GRCh37 Chromosome 5, 137028070: 137028070
41 KLHL3 NM_017415.2(KLHL3): c.926A> G (p.Gln309Arg) single nucleotide variant Pathogenic rs199469627 GRCh37 Chromosome 5, 136975644: 136975644
42 KLHL3 NM_017415.2(KLHL3): c.1151G> A (p.Arg384Gln) single nucleotide variant Pathogenic rs199469629 GRCh37 Chromosome 5, 136974710: 136974710
43 KLHL3 NM_017415.2(KLHL3): c.1292G> A (p.Arg431Gln) single nucleotide variant Pathogenic rs199469643 GRCh37 Chromosome 5, 136973012: 136973012
44 KLHL3 NM_017415.2(KLHL3): c.1723C> T (p.Arg575Trp) single nucleotide variant Pathogenic rs199469646 GRCh37 Chromosome 5, 136961454: 136961454
45 KLHL3 NM_017415.2(KLHL3): c.1295G> A (p.Ser432Asn) single nucleotide variant Pathogenic rs199469631 GRCh37 Chromosome 5, 136973009: 136973009
46 PIEZO2 NM_022068.3(PIEZO2): c.8238_8245delGACTAGAG (p.Trp2746Terfs) deletion Pathogenic rs724159993 GRCh37 Chromosome 18, 10671538: 10671545
47 PIEZO2 NM_022068.3(PIEZO2): c.8057G> A (p.Arg2686His) single nucleotide variant Pathogenic rs587777450 GRCh38 Chromosome 18, 10671729: 10671729
48 CUL3 NM_003590.4(CUL3): c.1377G> A (p.Lys459=) single nucleotide variant Likely pathogenic rs886038765 GRCh37 Chromosome 2, 225368369: 225368369

Expression for Pseudohypoaldosteronism, Type Iie

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

Pathways for Pseudohypoaldosteronism, Type Iie

GO Terms for Pseudohypoaldosteronism, Type Iie

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

id 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 Iie according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.32 CUL3 KLHL3
2 protein ubiquitination involved in ubiquitin-dependent protein catabolic process GO:0042787 9.26 CUL3 KLHL3
3 ion homeostasis GO:0050801 9.16 KLHL3 WNK4
4 renal sodium ion absorption GO:0070294 8.96 KLHL3 WNK4
5 distal tubule morphogenesis GO:0072156 8.62 KLHL3 WNK4

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

id Name GO ID Score Top Affiliating Genes
1 ubiquitin-protein transferase activity GO:0004842 8.62 CUL3 KLHL3

Sources for Pseudohypoaldosteronism, Type Iie

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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