MCID: PSD092
MIFTS: 42

Pseudohypoaldosteronism, Type Iie malady

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

Aliases & Classifications for Pseudohypoaldosteronism, Type Iie

About this section
Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Pseudohypoaldosteronism, Type Iie, Aliases & Descriptions:

Name: Pseudohypoaldosteronism, Type Iie 45 10 60
Pseudohypoaldosteronism Type 2 19 41 20 21 47
Gordon Hyperkalemia-Hypertension Syndrome 41 21 47
Gordon Syndrome 41 43 47
Phaii 19 41 47
Pha2 19 41 47
Hyperkaliemia - Hypertension, Gordon Type 41 47
Mineralocorticoid Resistant Hyperkalemia 41 47
Camptodactyly - Cleft Palate- Clubfoot 41 47
Familial Hyperkalemic Hypertension 41 47
Pseudohypoaldosteronism Type Ii 19 21
Pseudohypoaldosteronism Type 2e 47 22
Distal Arthrogryposis Type Iia 41 47
Distal Arthrogryposis Type 3 41 47
Spitzer-Weinstein Syndrome 41 47
Hypertensive Hyperkalemia 41 47
 
Chloride Shunt Syndrome 41 47
Arthrogryposis Multiplex Congenita, Distal, Type Iia 60
Arthrogryposis Multiplex Congenita Distal Type 2a 41
Hyperpotassemia and Hypertension, Familial 60
Camptodactyly, Cleft Palate, and Clubfoot 41
Hyperpotassemia and Hypertension Familial 41
Familial Hyperpotassemia and Hypertension 21
Familial Hypertensive Hyperkalemia 21
Familial Hyperkalemiahypertension 19
Pseudohypoaldosteronism, Type Iid 60
Pseudohypoaldosteronism, Type Ii 60
Arthrogryposis Distal Type 3 41
Gordon’s Syndrome 19
Pha2e 47
Da3 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
gordon syndrome:
Inheritance: Autosomal dominant; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy
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:

OMIM45 614496
Orphanet47 376, 757, 300530
MESH via Orphanet34 C537288
ICD10 via Orphanet26 Q68.8, I15.1
UMLS via Orphanet61 C1449844

Summaries for Pseudohypoaldosteronism, Type Iie

About this section


NIH Rare Diseases:41 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 and pseudohypoaldosteronism, type iia, and has symptoms including talipes, camptodactyly of finger and hypertension. 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. The compounds thiazide and chlorine have been mentioned in the context of this disorder. Affiliated tissues include kidney and testes.

Genetics Home Reference:21 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.

Description from OMIM:45 614496

GeneReviews summary for pha2

Related Diseases for Pseudohypoaldosteronism, Type Iie

About this section

Graphical network of diseases related to Pseudohypoaldosteronism, Type Iie:



Diseases related to pseudohypoaldosteronism, type iie

Symptoms for Pseudohypoaldosteronism, Type Iie

About this section

Symptoms by clinical synopsis from OMIM:

614496

Clinical features from OMIM:

614496

Symptoms:

 47 (show all 23)
  • camptodactyly of fingers
  • talipes-varus/metatarsal varus
  • autosomal dominant inheritance
  • high vaulted/narrow palate
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hearing loss/hypoacusia/deafness
  • pectus excavatum
  • scoliosis
  • syndactyly of fingers/interdigital palm
  • clinodactyly of fifth finger
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • chronic arterial hypertension
  • hyperkalemia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • anomalies of teeth and dentition
  • enamel anomaly
  • muscle weakness/flaccidity
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Pseudohypoaldosteronism, Type Iie:

(show all 24)
id Description Frequency HPO Source Accession
1 talipes hallmark (90%) HP:0001883
2 camptodactyly of finger hallmark (90%) HP:0100490
3 hypertension hallmark (90%) HP:0000822
4 hyperkalemia hallmark (90%) HP:0002153
5 amyotrophy typical (50%) HP:0003202
6 flexion contracture typical (50%) HP:0001371
7 nausea and vomiting typical (50%) HP:0002017
8 cryptorchidism occasional (7.5%) HP:0000028
9 cleft palate occasional (7.5%) HP:0000175
10 facial asymmetry occasional (7.5%) HP:0000324
11 hearing impairment occasional (7.5%) HP:0000365
12 pectus excavatum occasional (7.5%) HP:0000767
13 limitation of joint mobility occasional (7.5%) HP:0001376
14 scoliosis occasional (7.5%) HP:0002650
15 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
16 short stature occasional (7.5%) HP:0004322
17 finger syndactyly occasional (7.5%) HP:0006101
18 abnormality of dental enamel occasional (7.5%) HP:0000682
19 muscle weakness occasional (7.5%) HP:0001324
20 autosomal dominant inheritance HP:0000006
21 hypertension HP:0000822
22 metabolic acidosis HP:0001942
23 hyperkalemia HP:0002153
24 hyperchloremia HP:0011423

Drugs & Therapeutics for Pseudohypoaldosteronism, Type Iie

About this section

Drug clinical trials:

Search ClinicalTrials for Pseudohypoaldosteronism, Type Iie

Search NIH Clinical Center for Pseudohypoaldosteronism, Type Iie

Genetic Tests for Pseudohypoaldosteronism, Type Iie

About this section

Genetic tests related to Pseudohypoaldosteronism, Type Iie:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type Ii20 WNK4
2 Pseudohypoaldosteronism Type Iie20 CUL3
3 Pseudohypoaldosteronism Type 2e22
4 Pseudohypoaldosteronism, Type 222

Anatomical Context for Pseudohypoaldosteronism, Type Iie

About this section

MalaCards organs/tissues related to Pseudohypoaldosteronism, Type Iie:

31
Kidney, Testes

Animal Models for Pseudohypoaldosteronism, Type Iie or affiliated genes

About this section

Publications for Pseudohypoaldosteronism, Type Iie

About this section

Variations for Pseudohypoaldosteronism, Type Iie

About this section

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

62
id Symbol AA change Variation ID SNP ID
1CUL3p.Asp413GlyVAR_067532
2CUL3p.Lys459ArgVAR_067533

Clinvar genetic disease variations for Pseudohypoaldosteronism, Type Iie:

6 (show all 57)
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: c.1376_1377+4delAGGTAAdeletionPathogenicrs199469657GRCh37Chr 2, 225368365: 225368370
10CUL3NM_003590.4(CUL3): c.1377dupG (p.Thr460Aspfs)duplicationPathogenicrs199469659GRCh37Chr 2, 225368369: 225368370
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
31PIEZO2PIEZO2, 8-BP DEL, NT8238deletionPathogenic
32PIEZO2NM_022068.3(PIEZO2): c.8057G> A (p.Arg2686His)single nucleotide variantPathogenicGRCh38Chr 18, 10671729: 10671729
33CUL3CUL3, IVS8, A-G, -26single nucleotide variantPathogenic
34CUL3CUL3, IVS8, T-G, -28single nucleotide variantPathogenic
35CUL3CUL3, IVS8, T-G, -12single nucleotide variantPathogenic
36CUL3CUL3, IVS8, T-A, -5single nucleotide variantPathogenic
37CUL3CUL3, IVS8, C-T, -3single nucleotide variantPathogenic
38CUL3CUL3, IVS8, G-A, -1single nucleotide variantPathogenic
39CUL3NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly)single nucleotide variantPathogenicrs199469656GRCh37Chr 2, 225368508: 225368508
40KLHL3KLHL3, TRP470TERsingle nucleotide variantPathogenic
41KLHL3NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys)single nucleotide variantPathogenicrs199469639GRCh37Chr 5, 136975605: 136975605
42KLHL3NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu)single nucleotide variantPathogenicrs199469641GRCh37Chr 5, 136973075: 136973075
43KLHL3NM_017415.2(KLHL3): c.1583G> A (p.Arg528His)single nucleotide variantPathogenicrs199469636GRCh37Chr 5, 136963994: 136963994
44KLHL3NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs199469638GRCh37Chr 5, 136997639: 136997639
45KLHL3NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile)single nucleotide variantPathogenicrs199469640GRCh37Chr 5, 136975563: 136975563
46KLHL3NM_017415.2(KLHL3): c.1670A> G (p.Tyr557Cys)single nucleotide variantPathogenicrs199469645GRCh37Chr 5, 136961507: 136961507
47KLHL3NM_017415.2(KLHL3): c.1582C> T (p.Arg528Cys)single nucleotide variantPathogenicrs199469635GRCh37Chr 5, 136963995: 136963995
48KLHL3NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn)single nucleotide variantPathogenicrs199469632GRCh37Chr 5, 136973006: 136973006
49KLHL3NM_017415.2(KLHL3): c.1193C> T (p.Ala398Val)single nucleotide variantPathogenicrs387907155GRCh37Chr 5, 136974668: 136974668
50KLHL3KLHL3, ASN529LYSsingle nucleotide variantPathogenic
51KLHL3NM_017415.2(KLHL3): c.1277C> T (p.Pro426Leu)single nucleotide variantPathogenicrs387907156GRCh37Chr 5, 136973027: 136973027
52WNK1NG_007984.2: g.18538_59810deldeletionPathogenicGRCh37Chr 12, 875762: 917034
53WNK1NC_000012.12: g.776558_798335del21778deletionPathogenicGRCh37Chr 12, 885724: 907501
54WNK4NM_032387.4(WNK4): c.1693C> G (p.Gln565Glu)single nucleotide variantPathogenicrs137853092GRCh37Chr 17, 40939512: 40939512
55WNK4NM_032387.4(WNK4): c.1684G> A (p.Glu562Lys)single nucleotide variantPathogenicrs137853093GRCh37Chr 17, 40939503: 40939503
56WNK4NM_032387.4(WNK4): c.1691A> C (p.Asp564Ala)single nucleotide variantPathogenicrs137853094GRCh37Chr 17, 40939510: 40939510
57WNK4NM_032387.4(WNK4): c.3553C> T (p.Arg1185Cys)single nucleotide variantPathogenicrs137853095GRCh37Chr 17, 40948262: 40948262

Expression for genes affiliated with Pseudohypoaldosteronism, Type Iie

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

Pathways for genes affiliated with Pseudohypoaldosteronism, Type Iie

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0WNK4, WNK1
29.0WNK4, WNK1
39.0WNK4, WNK1

Compounds for genes affiliated with Pseudohypoaldosteronism, Type Iie

About this section
Sources:
43Novoseek, 24HMDB, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1thiazide439.2WNK4, WNK1
2chlorine43 2410.1WNK4, WNK1
3nacl439.0WNK1, WNK4
4proline439.0WNK4, WNK1
5chloride438.9WNK4, WNK1
6potassium43 24 1210.7WNK4, WNK1
7lysine438.7WNK4, WNK1, CUL3

GO Terms for genes affiliated with Pseudohypoaldosteronism, Type Iie

About this section

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

idNameGO IDScoreTop Affiliating Genes
1Cul3-RING ubiquitin ligase complexGO:00314639.5KLHL3, CUL3

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1distal tubule morphogenesisGO:00721569.5KLHL3, WNK4
2renal sodium ion absorptionGO:00702949.4WNK4, KLHL3
3protein ubiquitinationGO:00165679.4CUL3, KLHL3
4ion homeostasisGO:00508019.4WNK4, KLHL3
5regulation of cellular processGO:00507949.2WNK4, WNK1
6negative regulation of pancreatic juice secretionGO:00901889.2WNK4, WNK1
7ion transportGO:00068119.0WNK4, WNK1
8protein phosphorylationGO:00064689.0WNK4, WNK1
9intracellular signal transductionGO:00355568.7WNK4, WNK1

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

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activityGO:00046749.0WNK4, WNK1
2chloride channel inhibitor activityGO:00198698.7WNK4, WNK1

Products for genes affiliated with Pseudohypoaldosteronism, Type Iie

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pseudohypoaldosteronism, Type Iie

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet