DA3
MCID: PSD020
MIFTS: 43

Pseudohypoaldosteronism Type Ii (DA3) malady

Fetal, Genetic categories

Summaries for Pseudohypoaldosteronism Type Ii

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 venencie powell gordon winkelmann syndrome, and has symptoms including camptodactyly of fingers, talipes-varus/metatarsal varus and autosomal dominant inheritance. 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, 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:47 114300

GeneReviews summary for pha2

Aliases & Classifications for Pseudohypoaldosteronism Type Ii

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 20 22 21
gordon syndrome 43 45 49 47
gordon hyperkalemia-hypertension syndrome 43 21
distal arthrogryposis type 3 43 49
pha2 19 43
arthrogryposis multiplex congenita, distal, type iia 61
arthrogryposis multiplex congenita distal type 2a 43
hyperpotassemia and hypertension, familial 61
hyperpotassemia and hypertension familial 43
camptodactyly, cleft palate, and clubfoot 43
familial hyperpotassemia and hypertension 21
camptodactyly - cleft palate- clubfoot 49
familial hypertensive hyperkalemia 21
familial hyperkalemiahypertension 19
pseudohypoaldosteronism, type ii 61
distal arthrogryposis syndrome 61
distal arthrogryposis type iia 49
arthrogryposis distal type 3 43
chloride shunt syndrome 43
gordon’s syndrome 19
phaii 19
da3 43


External Ids:

OMIM47 114300
MESH via Orphanet36 C537288
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 237850008

Related Diseases for Pseudohypoaldosteronism Type Ii

Sources:
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 44)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism31.1WNK1, REN, WNK2, SCNN1A, KCNJ1, WNK3
2venencie powell gordon winkelmann syndrome10.5
3pseudohypoaldosteronism type iib10.4
4familial hypertension10.3
5pseudohypoaldosteronism type 110.3
6distal arthrogryposis10.2
7cleft palate10.2
8keratoderma palmoplantar spastic paralysis10.2
9renal tubular acidosis10.2
10n syndrome10.2
11autosomal dominant pseudohypoaldosteronism type 110.2
12hyperkalemic periodic paralysis10.1
13char syndrome10.1
14congenital contractural arachnodactyly10.1
15freeman sheldon syndrome10.1
16trismus-pseudocamptodactyly syndrome10.1
17distal arthrogryposis type 510.1
18arthrogryposis-like hand anomaly and sensorineural deafness10.1
19arterial calcification, generalized, of infancy, 210.1
20arthrogryposis with oculomotor limitation and electroretinal anomalies10.1
21distal arthrogryposis type 1010.1
22arthrogryposis - severe scoliosis10.1
23autosomal dominant multiple pterygium syndrome10.1
24aase-smith syndrome10.0
25arthrogryposis multiplex congenita distal type 110.0
26dominant cleft palate10.0
27pseudohypoaldosteronism type iid10.0
28bartter disease10.0KCNJ1
29polyhydramnios10.0KCNJ1
30cystic fibrosis10.0KCNJ1
31glucocorticoid-remediable aldosteronism10.0REN
32liddle syndrome10.0WNK4, SCNN1A
33metabolic acidosis10.0REN, WNK4
34autonomic neuropathy10.0REN
35bartter syndrome, type 210.0KCNJ1, REN
36nephrocalcinosis10.0KCNJ1
37bartter syndrome type 310.0SLC12A3, KCNJ1, REN
38hyperaldosteronism10.0SLC12A3, REN, KCNJ1
39hypokalemia10.0SLC12A3, REN, KCNJ1
40gitelman syndrome10.0SLC12A3, KCNJ1, REN, WNK1
41primary hyperoxaluria10.0KCNJ1, REN, SLC12A3
42hypervitaminosis d10.0TRPV5, TRPV6
43hypertension10.0SLC12A3, WNK1, WNK4, REN, SCNN1A
44essential hypertension10.0REN, WNK1, SLC12A3, WNK4, TRPC5

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



Diseases related to pseudohypoaldosteronism type ii

Clinical Features for Pseudohypoaldosteronism Type Ii

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

114300

Clinical synopsis from OMIM:

114300

Symptoms:

49 (show all 15)
  • 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

Drugs & Therapeutics for Pseudohypoaldosteronism Type Ii

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Pseudohypoaldosteronism Type Ii:

33
Kidney

Animal Models for Pseudohypoaldosteronism Type Ii or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Pseudohypoaldosteronism Type Ii

Genetic Variations for Pseudohypoaldosteronism Type Ii

Expression for genes affiliated with Pseudohypoaldosteronism Type Ii

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 12EMD Millipore, 50PharmGKB
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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
29.6SCNN1A, TRPC5
39.0TRPV5, TRPV6, TRPC5
48.6SLC12A3, WNK1, WNK3, WNK4, SCNN1A, KCNJ1

Compounds for genes affiliated with Pseudohypoaldosteronism Type Ii

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB, 24HMDB
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Compounds related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1bendroflumethiazide45 1111.1SLC12A3, REN
2diazoxide45 60 29 1113.0KCNJ1, SLC12A3
3hydrochlorothiazide45 50 29 11 2413.9REN, SLC12A3
4chlorine45 2410.9SLC12A3, WNK1, WNK4
5furosemide45 50 60 29 11 2414.8SLC12A3, REN
6amg 9810609.8TRPV6, TRPV5
75-iodoresiniferatoxin60 2910.8TRPV6, TRPV5
8hc 067047609.8TRPV6, TRPV5
9ruthenium red299.8TRPV6, TRPV5
10capsazepine45 60 2911.8TRPV6, TRPV5
11amiloride45 29 1111.7SCNN1A, REN
12mg2+299.7TRPV6, TRPV5
13la3+299.7TRPV6, TRPC5
142-apb29 6010.6TRPV6, TRPC5
15lysine459.5SLC12A3, WNK1, KCNJ1, WNK4
16anandamide45 29 60 2412.5TRPV6, TRPV5
17chloride459.2WNK1, WNK4, REN, KCNJ1, SLC12A3
18thiazide459.2SCNN1A, WNK4, WNK1, SLC12A3, REN
19potassium45 11 2411.2SLC12A3, WNK1, WNK4, REN, KCNJ1
20nacl458.9REN, WNK1, SLC12A3, WNK4, SCNN1A, KCNJ1
21sodium45 249.9WNK1, SLC12A3, WNK4, REN, SCNN1A, KCNJ1
22adp45 29 2410.6WNK4, WNK1, WNK2, WNK3
23Adenosine triphosphate11 249.4WNK1, WNK3, WNK4, WNK2
24magnesium45 11 2410.3TRPV5, KCNJ1, WNK2, WNK4, WNK3, WNK1
25calcium45 50 11 2411.1TRPC5, WNK1, REN, SLC12A3, TRPV6, TRPV5

GO Terms for genes affiliated with Pseudohypoaldosteronism Type Ii

Sources:
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:05079410.1WNK4, WNK1
2negative regulation of pancreatic juice secretionGO:09018810.1WNK4, WNK1
3renal sodium ion absorptionGO:07029410.0WNK4, KCNJ1
4excretionGO:0075889.8KCNJ1, SCNN1A
5regulation of ion homeostasisGO:20000219.4WNK3, WNK2
6positive regulation of sodium ion transmembrane transporter activityGO:20006519.3WNK3, WNK2
7ion transportGO:0068119.3SLC12A3, WNK1, WNK4
8calcium ion transportGO:0068169.0TRPC5, TRPV5, TRPV6
9intracellular protein kinase cascadeGO:0072439.0WNK2, WNK3, WNK1, WNK4
10protein phosphorylationGO:0064688.6WNK1, WNK3, WNK4, WNK2

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

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

Products for genes affiliated with Pseudohypoaldosteronism Type Ii

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudohypoaldosteronism Type Ii

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet