MCID: PSD092
MIFTS: 39

Pseudohypoaldosteronism, Type Iie malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases categories

Aliases & Classifications for Pseudohypoaldosteronism, Type Iie

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Sources:
49OMIM, 11diseasecard, 65UMLS, 21GeneReviews, 23Genetics Home Reference, 22GeneTests, 51Orphanet, 45NIH Rare Diseases, 24GTR, 67UniProtKB/Swiss-Prot, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Pseudohypoaldosteronism, Type Iie:

Name: Pseudohypoaldosteronism, Type Iie 49 11 65
Pseudohypoaldosteronism Type 2 21 45 22 23 51
Pha2 21 45 22 51
Gordon Hyperkalemia-Hypertension Syndrome 45 23 51
Phaii 21 22 51
Familial Hyperkalemiahypertension 21 22
Pseudohypoaldosteronism Type Ii 21 23
Pseudohypoaldosteronism Type 2e 51 24
Chloride Shunt Syndrome 45 51
Gordon Syndrome 45 22
Pha2e 51 67
Arthrogryposis Multiplex Congenita, Distal, Type Iia 65
Arthrogryposis Multiplex Congenita Distal Type 2a 45
Hyperpotassemia and Hypertension, Familial 65
Familial Hyperpotassemia and Hypertension 23
 
Camptodactyly, Cleft Palate, and Clubfoot 45
Hyperpotassemia and Hypertension Familial 45
Hyperkaliemia - Hypertension, Gordon Type 51
Mineralocorticoid Resistant Hyperkalemia 51
Familial Hypertensive Hyperkalemia 23
Familial Hyperkalemic Hypertension 51
Pseudohypoaldosteronism, Type Iid 65
Pseudohypoaldosteronism, Type Ii 65
Distal Arthrogryposis Type 3 45
Arthrogryposis Distal Type 3 45
Spitzer-Weinstein Syndrome 51
Pseudohypoaldosteronism 2e 67
Hypertensive Hyperkalemia 51
Gordon’s Syndrome 21
Da3 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
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)


External Ids:

OMIM49 614496
Orphanet51 757, 300530
UMLS via Orphanet66 C1449844
ICD10 via Orphanet28 I15.1
MedGen34 C3469606
MeSH36 D011546

Summaries for Pseudohypoaldosteronism, Type Iie

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NIH Rare Diseases:45 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 marden-walker syndrome, and has symptoms including hypertension, hyperkalemia and flexion contracture. An important gene associated with Pseudohypoaldosteronism, Type Iie is CUL3 (Cullin 3), and among its related pathways are Ion channel transport and PI3K / Akt Signaling. Affiliated tissues include kidney.

Genetics Home Reference:23 Pseudohypoaldosteronism type 2 (PHA2) is a condition characterized by problems regulating 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:67 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:49 614496

GeneReviews summary for pha2

Related Diseases for Pseudohypoaldosteronism, Type Iie

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



Diseases related to pseudohypoaldosteronism, type iie

Symptoms for Pseudohypoaldosteronism, Type Iie

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Symptoms by clinical synopsis from OMIM:

614496

Clinical features from OMIM:

614496

Symptoms:

 51 (show all 10)
  • chronic arterial hypertension
  • hyperkalemia
  • autosomal dominant inheritance
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • anomalies of teeth and dentition
  • enamel anomaly
  • muscle weakness/flaccidity
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Pseudohypoaldosteronism, Type Iie:

(show all 13)
id Description Frequency HPO Source Accession
1 hypertension hallmark (90%) HP:0000822
2 hyperkalemia hallmark (90%) HP:0002153
3 flexion contracture typical (50%) HP:0001371
4 nausea and vomiting typical (50%) HP:0002017
5 abnormality of dental enamel occasional (7.5%) HP:0000682
6 muscle weakness occasional (7.5%) HP:0001324
7 short stature occasional (7.5%) HP:0004322
8 autosomal dominant inheritance HP:0000006
9 hypertension HP:0000822
10 metabolic acidosis HP:0001942
11 hyperkalemia HP:0002153
12 pseudohypoaldosteronism HP:0008242
13 hyperchloremia HP:0011423

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 Ii22 WNK4
2 Pseudohypoaldosteronism Type Iie22 CUL3
3 Pseudohypoaldosteronism Type 2e24
4 Pseudohypoaldosteronism, Type 224

Anatomical Context for Pseudohypoaldosteronism, Type Iie

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MalaCards organs/tissues related to Pseudohypoaldosteronism, Type Iie:

33
Kidney

Animal Models for Pseudohypoaldosteronism, Type Iie or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoaldosteronism, Type Iie:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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:

67
id Symbol AA change Variation ID SNP ID
1CUL3p.Asp413GlyVAR_067532
2CUL3p.Lys459ArgVAR_067533

Clinvar genetic disease variations for Pseudohypoaldosteronism, Type Iie:

5 (show all 56)
id Gene Variation Type Significance SNP ID Assembly Location
1CUL3NM_003590.4(CUL3): c.1207-12T> Gsingle nucleotide variantPathogenicrs199469651GRCh37Chr 2, 225368551: 225368551
2CUL3NM_003590.4(CUL3): c.1207-1G> Asingle nucleotide variantPathogenicrs199469654GRCh37Chr 2, 225368540: 225368540
3CUL3NM_003590.4(CUL3): c.1207-26A> Gsingle nucleotide variantPathogenicrs199469650GRCh37Chr 2, 225368565: 225368565
4CUL3NM_003590.4(CUL3): c.1207-28T> Gsingle nucleotide variantPathogenicrs199469649GRCh37Chr 2, 225368567: 225368567
5CUL3NM_003590.4(CUL3): c.1207-3C> Tsingle nucleotide variantPathogenicrs199469653GRCh37Chr 2, 225368542: 225368542
6CUL3NM_003590.4(CUL3): c.1207-5T> Asingle nucleotide variantPathogenicrs199469652GRCh37Chr 2, 225368544: 225368544
7CUL3NM_003590.4(CUL3): c.1236G> A (p.Leu412=)single nucleotide variantPathogenicrs199469655GRCh37Chr 2, 225368510: 225368510
8CUL3NM_003590.4(CUL3): c.1376A> G (p.Lys459Arg)single nucleotide variantPathogenicrs199469658GRCh37Chr 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> Csingle nucleotide variantPathogenicrs199469660GRCh37Chr 2, 225368368: 225368368
12CUL3NM_003590.4(CUL3): c.1377+3A> Gsingle nucleotide variantPathogenicrs199469661GRCh37Chr 2, 225368366: 225368366
13KLHL3NM_017415.2(KLHL3): c.1410G> A (p.Trp470Ter)single nucleotide variantPathogenicrs199469644GRCh37Chr 5, 136969766: 136969766
14KLHL3NM_017415.2(KLHL3): c.721delC (p.Leu241Phefs)deletionPathogenicrs199469647GRCh37Chr 5, 136997636: 136997636
15KLHL3NM_017415.2(KLHL3): c.753+1G> Asingle nucleotide variantPathogenicrs199469648GRCh37Chr 5, 136997603: 136997603
16KLHL3NM_017415.2(KLHL3): c.1019C> T (p.Ala340Val)single nucleotide variantPathogenicrs199469628GRCh37Chr 5, 136975551: 136975551
17KLHL3NM_017415.2(KLHL3): c.1480G> A (p.Ala494Thr)single nucleotide variantPathogenicrs199469633GRCh37Chr 5, 136964097: 136964097
18KLHL3NM_017415.2(KLHL3): c.230C> A (p.Ala77Glu)single nucleotide variantPathogenicrs199469623GRCh37Chr 5, 137045450: 137045450
19KLHL3NM_017415.2(KLHL3): c.491G> T (p.Cys164Phe)single nucleotide variantPathogenicrs199469626GRCh37Chr 5, 137028009: 137028009
20KLHL3NM_017415.2(KLHL3): c.254A> C (p.Glu85Ala)single nucleotide variantPathogenicrs199469625GRCh37Chr 5, 137034085: 137034085
21KLHL3NM_017415.2(KLHL3): c.1160T> C (p.Leu387Pro)single nucleotide variantPathogenicrs199469630GRCh37Chr 5, 136974701: 136974701
22KLHL3NM_017415.2(KLHL3): c.1280T> C (p.Met427Thr)single nucleotide variantPathogenicrs199469642GRCh37Chr 5, 136973024: 136973024
23KLHL3NM_017415.2(KLHL3): c.232A> G (p.Met78Val)single nucleotide variantPathogenicrs199469624GRCh37Chr 5, 137045448: 137045448
24KLHL3NM_017415.2(KLHL3): c.1501C> A (p.Pro501Thr)single nucleotide variantPathogenicrs199469634GRCh37Chr 5, 136964076: 136964076
25KLHL3NM_017415.2(KLHL3): c.430C> T (p.Gln144Ter)single nucleotide variantPathogenicrs199469637GRCh37Chr 5, 137028070: 137028070
26KLHL3NM_017415.2(KLHL3): c.926A> G (p.Gln309Arg)single nucleotide variantPathogenicrs199469627GRCh37Chr 5, 136975644: 136975644
27KLHL3NM_017415.2(KLHL3): c.1151G> A (p.Arg384Gln)single nucleotide variantPathogenicrs199469629GRCh37Chr 5, 136974710: 136974710
28KLHL3NM_017415.2(KLHL3): c.1292G> A (p.Arg431Gln)single nucleotide variantPathogenicrs199469643GRCh37Chr 5, 136973012: 136973012
29KLHL3NM_017415.2(KLHL3): c.1723C> T (p.Arg575Trp)single nucleotide variantPathogenicrs199469646GRCh37Chr 5, 136961454: 136961454
30KLHL3NM_017415.2(KLHL3): c.1295G> A (p.Ser432Asn)single nucleotide variantPathogenicrs199469631GRCh37Chr 5, 136973009: 136973009
31KLHL3NM_017415.2(KLHL3): c.1519G> A (p.Val507Ile)single nucleotide variantLikely pathogenicGRCh38Chr 5, 137628369: 137628369
32CUL3CUL3, IVS8, A-G, -26single nucleotide variantPathogenic
33CUL3CUL3, IVS8, T-G, -28single nucleotide variantPathogenic
34CUL3CUL3, IVS8, T-G, -12single nucleotide variantPathogenic
35CUL3CUL3, IVS8, T-A, -5single nucleotide variantPathogenic
36CUL3CUL3, IVS8, C-T, -3single nucleotide variantPathogenic
37CUL3CUL3, IVS8, G-A, -1single nucleotide variantPathogenic
38CUL3NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly)single nucleotide variantPathogenicrs199469656GRCh37Chr 2, 225368508: 225368508
39KLHL3KLHL3, TRP470TERsingle nucleotide variantPathogenic
40KLHL3NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys)single nucleotide variantPathogenicrs199469639GRCh37Chr 5, 136975605: 136975605
41KLHL3NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu)single nucleotide variantPathogenicrs199469641GRCh37Chr 5, 136973075: 136973075
42KLHL3NM_017415.2(KLHL3): c.1583G> A (p.Arg528His)single nucleotide variantPathogenicrs199469636GRCh37Chr 5, 136963994: 136963994
43KLHL3NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs199469638GRCh37Chr 5, 136997639: 136997639
44KLHL3NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile)single nucleotide variantPathogenicrs199469640GRCh37Chr 5, 136975563: 136975563
45KLHL3NM_017415.2(KLHL3): c.1670A> G (p.Tyr557Cys)single nucleotide variantPathogenicrs199469645GRCh37Chr 5, 136961507: 136961507
46KLHL3NM_017415.2(KLHL3): c.1582C> T (p.Arg528Cys)single nucleotide variantPathogenicrs199469635GRCh37Chr 5, 136963995: 136963995
47KLHL3NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn)single nucleotide variantPathogenicrs199469632GRCh37Chr 5, 136973006: 136973006
48KLHL3NM_017415.2(KLHL3): c.1193C> T (p.Ala398Val)single nucleotide variantPathogenicrs387907155GRCh37Chr 5, 136974668: 136974668
49KLHL3KLHL3, ASN529LYSsingle nucleotide variantPathogenic
50KLHL3NM_017415.2(KLHL3): c.1277C> T (p.Pro426Leu)single nucleotide variantPathogenicrs387907156GRCh37Chr 5, 136973027: 136973027
51WNK1NM_213655.4(WNK1): c.759+12272_760-5774deldeletionPathogenicGRCh37Chr 12, 875762: 917034
52WNK1NG_007984.2: g.28500_50277del21778deletionPathogenicGRCh37Chr 12, 885724: 907501
53WNK4NM_032387.4(WNK4): c.1693C> G (p.Gln565Glu)single nucleotide variantPathogenicrs137853092GRCh37Chr 17, 40939512: 40939512
54WNK4NM_032387.4(WNK4): c.1684G> A (p.Glu562Lys)single nucleotide variantPathogenicrs137853093GRCh37Chr 17, 40939503: 40939503
55WNK4NM_032387.4(WNK4): c.1691A> C (p.Asp564Ala)single nucleotide variantPathogenicrs137853094GRCh37Chr 17, 40939510: 40939510
56WNK4NM_032387.4(WNK4): c.3553C> T (p.Arg1185Cys)single nucleotide variantPathogenicrs137853095GRCh37Chr 17, 40948262: 40948262

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3WNK1, WNK4
29.3WNK1, WNK4
39.3WNK1, WNK4

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
1regulation of cellular processGO:00507949.8WNK1, WNK4
2negative regulation of pancreatic juice secretionGO:00901889.7WNK1, WNK4
3distal tubule morphogenesisGO:00721569.5KLHL3, WNK4
4renal sodium ion absorptionGO:00702949.4KLHL3, WNK4
5protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:00427879.1CUL3, KLHL3
6ion homeostasisGO:00508019.0KLHL3, WNK4

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel inhibitor activityGO:00198699.7WNK1, WNK4
2ubiquitin-protein transferase activityGO:00048429.1CUL3, KLHL3

Sources for Pseudohypoaldosteronism, Type Iie

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet