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

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Aliases & Descriptions for Pseudohypoaldosteronism, Type Iie:

Name: Pseudohypoaldosteronism, Type Iie 52 12 68
Pseudohypoaldosteronism Type 2 48 24 25 54
Phaii 23 24 25 54
Gordon Hyperkalemia-Hypertension Syndrome 48 25 54
Familial Hyperkalemic Hypertension 23 25 54
Pseudohypoaldosteronism Type Ii 23 24 25
Pha2 48 24 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
 
Camptodactyly, Cleft Palate, and Clubfoot 48
Familial Hyperpotassemia and Hypertension 25
Mineralocorticoid Resistant Hyperkalemia 54
Familial Hyperkalemia and Hypertension 24
Familial Hypertensive Hyperkalemia 25
Pseudohypoaldosteronism, Type Iid 68
Pseudohypoaldosteronism, Type Ii 68
Pseudohypoaldosteronism Type Iie 24
Pseudohypoaldosteronism Type 2e 54
Arthrogryposis Distal Type 3 48
Distal Arthrogryposis 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

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 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 Array, Array and Array. An important gene associated with Pseudohypoaldosteronism, Type Iie is CUL3 (Cullin 3). Affiliated tissues include kidney, and related mouse phenotype 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:70 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: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:

 54 64 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth54 Occasional (29-5%)
2 abnormality of dental enamel64 54 Occasional (29-5%) HP:0000682
3 hypertension64 54 Very frequent (99-80%) HP:0000822
4 muscle weakness64 54 Occasional (29-5%) HP:0001324
5 growth delay54 Occasional (29-5%)
6 nausea and vomiting64 54 Frequent (79-30%) HP:0002017
7 hyperkalemia64 54 Very frequent (99-80%) HP:0002153
8 periodic paralysis64 54 Occasional (29-5%) HP:0003768
9 short stature64 54 Occasional (29-5%) HP:0004322
10 metabolic acidosis64 HP:0001942
11 hyperchloremic metabolic acidosis64 HP:0004918
12 pseudohypoaldosteronism64 HP:0008242
13 hyperchloremia64 HP:0011423

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00103-A-08.5CUL3, KLHL3, WNK4

Drugs & Therapeutics for Pseudohypoaldosteronism, Type Iie

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EnalaprilatapprovedPhase 212476420-72-96917719
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid dihydrate
1-((2S)-2-{[(1S)-1-CARBOXY-3-PHENYLPROPYL]AMINO}PROPANOYL)-L-PROLINE
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline dihydrate
76420-72-9
AC1NUWEA
AC1OCEK7
BIDD:GT0752
C11720
C18H24N2O5.2H2O
CHEBI:116759
CHEBI:42302
CHEBI:4786
CHEBI:59877
CHEMBL1200697
CHEMBL577
CID5462501
CID6917719
CPD000466359
D03769
EAL
ENALAPRILAT INHIBITOR
Enalapril acid
Enalapril diacid
Enalaprilat
Enalaprilat (USP)
 
Enalaprilat anhydrous
Enalaprilate
Enalaprilatum
Enalaprilic acid
Enalprilate hydrate
HMS2051H16
HMS2089P04
LS-118903
LS-187219
MK-422
MLS000759476
MLS001424138
MolPort-005-943-792
N-[(1S)-1-Carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline--water (1/2)
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline—water (1/2)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalaprilat dihydrate
enalaprilat hydrate
enalprilat hydrate
enalprilate hydrate
2
Enalaprilapproved, vet_approvedPhase 212475847-73-35362032, 40466924
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N-(1-(Ethoxycarbonyl)-3-phenylpropyl)-L-alanyl)-L-proline
(S)-1-{(S)-2-[1-((S)-ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester
75847-73-3
AC1NTUS5
Analapril
BIDD:GT0751
BPBio1_000340
BSPBio_000308
BSPBio_003035
Bonuten
C06977
CAS-76095-16-4
CHEBI:116847
CHEBI:4784
CHEMBL578
CID5388962
D07892
DivK1c_000408
Enalapril
Enalapril (INN)
Enalapril (TN)
Enalapril Bp
Enalapril Maleate
Enalapril Richet
Enalaprila
Enalaprila [INN-Spanish]
Enalaprilat
Enalaprilum
 
Enalaprilum [INN-Latin]
Gadopril
HMS2090E08
IDI1_000408
KBio1_000408
KBio2_001787
KBio2_004355
KBio2_006923
KBio3_002535
KBioGR_000355
KBioSS_001787
Kinfil
LS-190651
MolPort-002-885-877
N-[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]-L-alanyl-L-proline
N-{(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}-L-alanyl-L-proline
NCGC00016932-01
NCGC00021569-04
NCGC00021569-05
NCGC00021569-06
NINDS_000408
Prestwick3_000314
SPBio_001349
Spectrum2_001455
Spectrum3_001478
Spectrum4_000008
Spectrum5_001107
Spectrum_001307
Vaseretic
Vasotec
Vasotec IV
enalapril
3
protease inhibitorsPhase 25471
Synonyms:
 
protease inhibitors
4HIV Protease InhibitorsPhase 25470
5Antihypertensive AgentsPhase 24207
6Chelating AgentsPhase 21423
7Angiotensin-Converting Enzyme InhibitorsPhase 2724
8
Mentholapproved26062216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type ICompletedNCT00004328Phase 2
2Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon SyndromeRecruitingNCT01144741
3Online 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 46)
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+4delAGGTAAdeletionPathogenicrs199469657GRCh37Chr 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
31CUL3NM_ 003590.4(CUL3): c.1377G> A (p.Lys459=)SNVLikely pathogenicrs886038765GRCh37Chr 2, 225368369: 225368369
32CUL3CUL3, IVS8, A-G, -26SNVPathogenic
33CUL3CUL3, IVS8, T-G, -28SNVPathogenic
34CUL3CUL3, IVS8, T-G, -12SNVPathogenic
35CUL3CUL3, IVS8, T-A, -5SNVPathogenic
36CUL3CUL3, IVS8, C-T, -3SNVPathogenic
37CUL3CUL3, IVS8, G-A, -1SNVPathogenic
38CUL3NM_ 003590.4(CUL3): c.1238A> G (p.Asp413Gly)SNVPathogenicrs199469656GRCh37Chr 2, 225368508: 225368508
39KLHL3NM_ 017415.2(KLHL3): c.965T> G (p.Phe322Cys)SNVPathogenicrs199469639GRCh37Chr 5, 136975605: 136975605
40KLHL3NM_ 017415.2(KLHL3): c.1229C> T (p.Ser410Leu)SNVPathogenicrs199469641GRCh37Chr 5, 136973075: 136973075
41KLHL3NM_ 017415.2(KLHL3): c.1583G> A (p.Arg528His)SNVPathogenicrs199469636GRCh37Chr 5, 136963994: 136963994
42KLHL3NM_ 017415.2(KLHL3): c.718C> T (p.Arg240Ter)SNVPathogenicrs199469638GRCh37Chr 5, 136997639: 136997639
43KLHL3NM_ 017415.2(KLHL3): c.1007G> T (p.Arg336Ile)SNVPathogenicrs199469640GRCh37Chr 5, 136975563: 136975563
44KLHL3NM_ 017415.2(KLHL3): c.1670A> G (p.Tyr557Cys)SNVPathogenicrs199469645GRCh37Chr 5, 136961507: 136961507
45KLHL3NM_ 017415.2(KLHL3): c.1582C> T (p.Arg528Cys)SNVPathogenicrs199469635GRCh37Chr 5, 136963995: 136963995
46KLHL3NM_ 017415.2(KLHL3): c.1298G> A (p.Ser433Asn)SNVPathogenicrs199469632GRCh37Chr 5, 136973006: 136973006

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:00314639.3CUL3, KLHL3

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

idNameGO IDScoreTop Affiliating Genes
1post-translational protein modificationGO:00436879.9CUL3, KLHL3
2distal tubule morphogenesisGO:00721569.7KLHL3, WNK4
3ion homeostasisGO:00508019.7KLHL3, WNK4
4protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:00427879.4CUL3, KLHL3
5renal sodium ion absorptionGO:00702949.0KLHL3, WNK4

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-protein transferase activityGO:00048429.3CUL3, 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