MCID: ATS017
MIFTS: 31

Autosomal Dominant Pseudohypoaldosteronism Type 1 malady

Nephrological category

Summaries for Autosomal Dominant Pseudohypoaldosteronism Type 1

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. autosomal dominant pseudohypoaldosteronism type 1 (pha1a) exhibits autosomal dominant inheritance with variable expression. it is caused by by mutations in the mineralocorticoid receptor gene (nr3c2).   last updated: 12/2/2011

MalaCards: Autosomal Dominant Pseudohypoaldosteronism Type 1, also known as pseudohypoaldosteronism type 1 autosomal dominant, is related to pseudohypoaldosteronism and liddle syndrome. An important gene associated with Autosomal Dominant Pseudohypoaldosteronism Type 1 is NR3C2 (nuclear receptor subfamily 3, group C, member 2), and among its related pathways is Aldosterone-regulated sodium reabsorption. The compounds triamterene and amiloride have been mentioned in the context of this disorder. Related mouse phenotype renal/urinary system.

Description from OMIM:47 177735,264350

Aliases & Classifications for Autosomal Dominant Pseudohypoaldosteronism Type 1

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological


Characteristics (Orphanet epidemiological data):

49
autosomal dominant pseudohypoaldosteronism type 1:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal
pseudohypoaldosteronism type 1:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

autosomal dominant pseudohypoaldosteronism type 1 43 49
pseudohypoaldosteronism type 1 autosomal dominant 43 22
pseudohypoaldosteronism type 1, dominant 43 20
renal pseudohypoaldosteronism type 1 43 49
pseudohypoaldosteronism, type i, autosomal dominant 61
pseudohypoaldosteronism type i, autosomal dominant 47
pseudohypoaldosteronism, type i 61
pseudohypoaldosteronism type 1 49
pelger-huet anomaly 61
pha type 1 49
renal pha1 43
pha1a 43


External Ids:

ICD10 via Orphanet26 N25.8
MESH via Orphanet36 D011546
SNOMED-CT via Orphanet58 43941006
UMLS via Orphanet62 C0268436, C1449843

Related Diseases for Autosomal Dominant Pseudohypoaldosteronism Type 1

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Autosomal Dominant Pseudohypoaldosteronism Type 1:



Diseases related to autosomal dominant pseudohypoaldosteronism type 1

Clinical Features for Autosomal Dominant Pseudohypoaldosteronism Type 1

Sources:
47OMIM
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Clinical features from OMIM:

177735,264350

Clinical synopsis from OMIM:

177735

Drugs & Therapeutics for Autosomal Dominant Pseudohypoaldosteronism Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Autosomal Dominant Pseudohypoaldosteronism Type 1

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Genetic Tests for Autosomal Dominant Pseudohypoaldosteronism Type 1

Sources:
20GeneTests, 22GTR
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Genetic tests related to Autosomal Dominant Pseudohypoaldosteronism Type 1:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 1, Dominant20 NR3C2
2 Pseudohypoaldosteronism Type 1 Autosomal Dominant22

Anatomical Context for Autosomal Dominant Pseudohypoaldosteronism Type 1

Animal Models for Autosomal Dominant Pseudohypoaldosteronism Type 1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Autosomal Dominant Pseudohypoaldosteronism Type 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1NR3C2, SCNN1G

Publications for Autosomal Dominant Pseudohypoaldosteronism Type 1

Sources:
51PubMed
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Articles related to Autosomal Dominant Pseudohypoaldosteronism Type 1:

idTitleAuthorsYear
1
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. (10869238)
2000

Genetic Variations for Autosomal Dominant Pseudohypoaldosteronism Type 1

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Autosomal Dominant Pseudohypoaldosteronism Type 1:

63 (show all 13)
id Symbol AA change Variation SNP ID
1NR3C2p.Leu924ProVAR_015627
2NR3C2p.Gly633ArgVAR_031268
3NR3C2p.Cys645SerVAR_031269
4NR3C2p.Arg659SerVAR_031270
5NR3C2p.Pro759SerVAR_031271
6NR3C2p.Leu769ProVAR_031272
7NR3C2p.Asn770LysVAR_031273
8NR3C2p.Gln776ArgVAR_031274
9NR3C2p.Ser805ProVAR_031275
10NR3C2p.Ser815ArgVAR_031276
11NR3C2p.Ser818LeuVAR_031277
12NR3C2p.Glu972GlyVAR_031278
13NR3C2p.Leu979ProVAR_031279

Expression for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

Search GEO for disease gene expression data for Autosomal Dominant Pseudohypoaldosteronism Type 1.

Pathways for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

Sources:
30KEGG
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Pathways related to Autosomal Dominant Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1NR3C2, SCNN1G

Compounds for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Autosomal Dominant Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1triamterene45 11 2411.2NR3C2, SCNN1G
2amiloride45 29 1111.1NR3C2, SCNN1G
3cysteine459.1NR3C2, SCNN1G
4sodium45 2410.0SCNN1G, NR3C2
5progesterone45 60 29 11 2412.8NR3C2, SCNN1G

GO Terms for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

Products for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autosomal Dominant Pseudohypoaldosteronism Type 1

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