DA3
MCID: PSD020
MIFTS: 55

Pseudohypoaldosteronism Type Ii (DA3) malady

Fetal diseases, Genetic diseases categories

Summaries for Pseudohypoaldosteronism Type Ii

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42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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: Pseudohypoaldosteronism Type Ii, also known as pseudohypoaldosteronism type 2, is related to pseudohypoaldosteronism and hypertension, and has symptoms including short stature/dwarfism/nanism, restricted joint mobility/joint stiffness/ankylosis and undescended/ectopic testes/cryptorchidia/unfixed testes. An important gene associated with Pseudohypoaldosteronism Type Ii is WNK4 (WNK lysine deficient protein kinase 4), and among its related pathways are Aldosterone-regulated sodium reabsorption and Sodium channels and transporters: inward current. The compounds bendroflumethiazide and diazoxide have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone, and related mouse phenotypes are cardiovascular system and behavior/neurological.

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:46 114300

GeneReviews summary for pha2

Aliases & Classifications for Pseudohypoaldosteronism Type Ii

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19GeneReviews, 21Genetics Home Reference, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Genetic diseases


Characteristics (Orphanet epidemiological data):

48
gordon syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

pseudohypoaldosteronism type ii 19 21
pseudohypoaldosteronism type 2 19 42 20 22 21
gordon syndrome 42 44 48 46
gordon hyperkalemia-hypertension syndrome 42 21
distal arthrogryposis type 3 42 48
pha2 19 42
arthrogryposis multiplex congenita, distal, type iia 60
arthrogryposis multiplex congenita distal type 2a 42
hyperpotassemia and hypertension, familial 60
hyperpotassemia and hypertension familial 42
camptodactyly, cleft palate, and clubfoot 42
familial hyperpotassemia and hypertension 21
camptodactyly - cleft palate- clubfoot 48
familial hypertensive hyperkalemia 21
familial hyperkalemiahypertension 19
pseudohypoaldosteronism, type ii 60
distal arthrogryposis syndrome 60
distal arthrogryposis type iia 48
arthrogryposis distal type 3 42
chloride shunt syndrome 42
gordon’s syndrome 19
phaii 19
da3 42


External Ids:

OMIM46 114300
MESH via Orphanet35 C537288
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 237850008

Related Diseases for Pseudohypoaldosteronism Type Ii

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17GeneCards, 18GeneDecks
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Diseases in the Pseudohypoaldosteronism Type Iib family:

Pseudohypoaldosteronism pseudohypoaldosteronism type ii
Pseudohypoaldosteronism Type Iic Pseudohypoaldosteronism Type Iie
Pseudohypoaldosteronism Type Iid Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism, Type Iia Transient Pseudohypoaldosteronism

Diseases related to Pseudohypoaldosteronism Type Ii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism31.1SLC12A3, KCNJ1, SCNN1A, REN, WNK2, WNK4
2hypertension30.6SCNN1A, REN, WNK4, WNK1, SLC12A3
3venencie powell gordon winkelmann syndrome10.5
4pseudohypoaldosteronism type iib10.4
5distal arthrogryposis10.2
6cleft palate10.2
7keratoderma palmoplantar spastic paralysis10.2
8renal tubular acidosis10.1
9hyperkalemic periodic paralysis10.1
10congenital contractural arachnodactyly10.1
11freeman sheldon syndrome10.1
12trismus-pseudocamptodactyly syndrome10.1
13distal arthrogryposis type 510.1
14arthrogryposis-like hand anomaly and sensorineural deafness10.1
15arterial calcification, generalized, of infancy, 210.1
16arthrogryposis with oculomotor limitation and electroretinal anomalies10.1
17distal arthrogryposis type 1010.1
18arthrogryposis - severe scoliosis10.1
19autosomal dominant multiple pterygium syndrome10.1
20arthrogryposis multiplex congenita distal type 110.0
21pseudohypoaldosteronism type iid10.0
22bartter disease10.0KCNJ1
23polyhydramnios10.0KCNJ1
24cystic fibrosis10.0KCNJ1
25glucocorticoid-remediable aldosteronism10.0REN
26liddle syndrome10.0WNK4, SCNN1A
27metabolic acidosis10.0WNK4, REN
28autonomic neuropathy10.0REN
29bartter syndrome, type 210.0REN, KCNJ1
30nephrocalcinosis10.0KCNJ1
31bartter syndrome type 310.0SLC12A3, REN, KCNJ1
32hyperaldosteronism10.0KCNJ1, REN, SLC12A3
33hypokalemia10.0SLC12A3, REN, KCNJ1
34gitelman syndrome10.0KCNJ1, REN, WNK1, SLC12A3
35primary hyperoxaluria10.0SLC12A3, REN, KCNJ1
36hypervitaminosis d10.0TRPV6, TRPV5
37essential hypertension10.0TRPC5, REN, WNK4, WNK1, SLC12A3

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



Diseases related to pseudohypoaldosteronism type ii

Clinical Features for Pseudohypoaldosteronism Type Ii

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

114300

Clinical synopsis from OMIM:

114300

Symptoms:

48 (show all 15)
  • short stature/dwarfism/nanism
  • restricted joint mobility/joint stiffness/ankylosis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • clinodactyly of fifth finger
  • syndactyly of fingers/interdigital palm
  • scoliosis
  • pectus excavatum
  • hearing loss/hypoacusia/deafness
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • high vaulted/narrow palate
  • autosomal dominant inheritance
  • talipes-varus/metatarsal varus
  • camptodactyly of fingers

Drugs & Therapeutics for Pseudohypoaldosteronism Type Ii

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Pseudohypoaldosteronism Type Ii

Drug clinical trials:

Search ClinicalTrials for Pseudohypoaldosteronism Type Ii

Search NIH Clinical Center for Pseudohypoaldosteronism Type Ii

Search CenterWatch for Pseudohypoaldosteronism Type Ii

Genetic Tests for Pseudohypoaldosteronism Type Ii

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20GeneTests, 22GTR
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Genetic tests related to Pseudohypoaldosteronism Type Ii:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type Ii20 WNK4
2 Pseudohypoaldosteronism, Type 222

Anatomical Context for Pseudohypoaldosteronism Type Ii

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32MalaCards
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MalaCards organs/tissues related to Pseudohypoaldosteronism Type Ii:

32
Kidney, Testes, Bone

Animal Models for Pseudohypoaldosteronism Type Ii or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pseudohypoaldosteronism Type Ii:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.2KCNJ1, REN, WNK4, WNK3, WNK1, SLC12A3
2MP:00053867.9REN, TRPV6, TRPV5, TRPC5, SCNN1A, KCNJ1
3MP:00053677.2SLC12A3, KCNJ1, SCNN1A, TRPV5, TRPV6, REN
4MP:00053766.6KCNJ1, SCNN1A, TRPC5, TRPV5, TRPV6, REN

Publications for Pseudohypoaldosteronism Type Ii

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50PubMed
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Articles related to Pseudohypoaldosteronism Type Ii:

(show all 24)
idTitleAuthorsYear
1
Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Questions. (24396028)
2014
2
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. (23689903)
2013
3
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). (23336180)
2013
4
A molecular update on pseudohypoaldosteronism type II. (24107425)
2013
5
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. (23902721)
2013
6
Phenotypes of pseudohypoaldosteronism type II caused by the WNK4 D561A missense mutation are dependent on the WNK-OSR1/SPAK kinase cascade. (21486947)
2011
7
Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism type II. (21196779)
2011
8
Mechanisms of type I and type II pseudohypoaldosteronism. (20829405)
2010
9
Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice. (20181799)
2010
10
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. (19016006)
2008
11
Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model. (17488636)
2007
12
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. (15998707)
2005
13
Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. (12107233)
2002
14
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. (10869238)
2000
15
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. (9171836)
1997
16
Furosemide and dDAVP for the treatment of pseudohypoaldosteronism type II. (9492109)
1997
17
Type II pseudohypoaldosteronism. Report of a case and review of the literature. (7930391)
1994
18
Pseudohypoaldosteronism Type II (22073419)
1993
19
Syndrome of hypertension and hyperkalemia with normal GFR (Gordon's syndrome: pseudohypoaldosteronism type II). (8143511)
1993
20
Increased chloride reabsorption as an inherited renal tubular defect in familial type II pseudohypoaldosteronism. (1988833)
1991
21
Treatment of mineralocorticoid-resistant renal hyperkalemia with hypertension (type II pseudohypoaldosteronism). (3463275)
1986
22
Pseudohypoaldosteronism type II: proximal renal tubular acidosis and dDAVP-sensitive renal hyperkalemia. (3777034)
1986
23
Mineralocorticoid-induced kaliuresis in type-II pseudohypoaldosteronism. (3529961)
1986
24
Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): role of increased renal chloride reabsorption. (7026872)
1981

Genetic Variations for Pseudohypoaldosteronism Type Ii

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Expression for genes affiliated with Pseudohypoaldosteronism Type Ii

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudohypoaldosteronism Type Ii

Search GEO for disease gene expression data for Pseudohypoaldosteronism Type Ii.

Pathways for genes affiliated with Pseudohypoaldosteronism Type Ii

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29KEGG, 12EMD Millipore, 49PharmGKB
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Pathways related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8SCNN1A, KCNJ1
29.6TRPC5, SCNN1A
39.0TRPC5, TRPV5, TRPV6
48.6SLC12A3, WNK1, WNK3, WNK4, SCNN1A, KCNJ1

Compounds for genes affiliated with Pseudohypoaldosteronism Type Ii

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 24HMDB
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Compounds related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1bendroflumethiazide44 1111.1SLC12A3, REN
2diazoxide44 59 28 1113.0KCNJ1, SLC12A3
3hydrochlorothiazide44 49 28 11 2413.9SLC12A3, REN
4chlorine44 2410.9SLC12A3, WNK1, WNK4
5furosemide44 49 59 28 11 2414.8SLC12A3, REN
6amg 9810599.8TRPV5, TRPV6
75-iodoresiniferatoxin59 2810.8TRPV5, TRPV6
8hc 067047599.8TRPV5, TRPV6
9ruthenium red289.8TRPV5, TRPV6
10capsazepine44 59 2811.8TRPV5, TRPV6
11amiloride44 28 1111.7REN, SCNN1A
12mg2+289.7TRPV5, TRPV6
13la3+289.7TRPC5, TRPV6
142-apb28 5910.6TRPV6, TRPC5
15lysine449.5SLC12A3, WNK1, WNK4, KCNJ1
16anandamide44 28 59 2412.5TRPV6, TRPV5
17chloride449.2KCNJ1, REN, WNK4, WNK1, SLC12A3
18thiazide449.2SLC12A3, WNK1, WNK4, REN, SCNN1A
19potassium44 11 2411.2KCNJ1, REN, WNK4, WNK1, SLC12A3
20nacl448.9KCNJ1, SCNN1A, REN, WNK4, WNK1, SLC12A3
21sodium44 249.9KCNJ1, SCNN1A, REN, WNK4, WNK1, SLC12A3
22adp44 28 2410.6WNK2, WNK4, WNK3, WNK1
23Adenosine triphosphate11 249.4WNK1, WNK3, WNK4, WNK2
24magnesium44 11 2410.3KCNJ1, TRPV5, WNK2, WNK4, WNK3, WNK1
25calcium44 49 11 2411.1TRPC5, TRPV5, TRPV6, REN, WNK1, SLC12A3

GO Terms for genes affiliated with Pseudohypoaldosteronism Type Ii

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16Gene Ontology
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Cellular components related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.4SLC12A3, TRPV5, SCNN1A

Biological processes related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of cellular processGO:05079410.1WNK1, WNK4
2negative regulation of pancreatic juice secretionGO:09018810.1WNK4, WNK1
3renal sodium ion absorptionGO:07029410.0KCNJ1, WNK4
4excretionGO:0075889.8SCNN1A, KCNJ1
5regulation of ion homeostasisGO:20000219.5WNK2, WNK3
6positive regulation of sodium ion transmembrane transporter activityGO:20006519.4WNK2, WNK3
7ion transportGO:0068119.3SLC12A3, WNK1, WNK4
8calcium ion transportGO:0068169.0TRPV6, TRPV5, TRPC5
9intracellular protein kinase cascadeGO:0072439.0WNK1, WNK3, WNK4, WNK2
10protein phosphorylationGO:0064688.6WNK2, WNK4, WNK3, WNK1

Molecular functions related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium channel activityGO:0052628.9TRPV6, TRPV5, TRPC5
2protein serine/threonine kinase activityGO:0046748.4WNK2, WNK4, WNK3, WNK1
3ATP bindingGO:0055248.4WNK1, WNK3, WNK4, WNK2, KCNJ1

Products for genes affiliated with Pseudohypoaldosteronism Type Ii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudohypoaldosteronism Type Ii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet