MCID: ATS017
MIFTS: 40

Autosomal Dominant Pseudohypoaldosteronism Type 1 malady

Nephrological diseases category

Summaries for Autosomal Dominant Pseudohypoaldosteronism Type 1

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 pelger-huet anomaly. 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:46 177735,264350

Aliases & Classifications for Autosomal Dominant Pseudohypoaldosteronism Type 1

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60UMLS, 42NIH Rare Diseases, 48Orphanet, 22GTR, 20GeneTests, 46OMIM, 26ICD10 via Orphanet, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 48
pseudohypoaldosteronism type 1 autosomal dominant 42 22
pseudohypoaldosteronism type 1, dominant 42 20
renal pseudohypoaldosteronism type 1 42 48
pseudohypoaldosteronism, type i, autosomal dominant 60
pseudohypoaldosteronism type i, autosomal dominant 46
pseudohypoaldosteronism, type i 60
pseudohypoaldosteronism type 1 48
pelger-huet anomaly 60
renal pha1 42
pha type 1 48
pha1a 42


External Ids:

ICD10 via Orphanet26 N25.8
MESH via Orphanet35 D011546
SNOMED-CT via Orphanet57 43941006
UMLS via Orphanet61 C0268436, C1449843

Related Diseases for Autosomal Dominant Pseudohypoaldosteronism Type 1

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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

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46OMIM
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Clinical features from OMIM:

177735,264350

Clinical synopsis from OMIM:

177735

Drugs & Therapeutics for Autosomal Dominant Pseudohypoaldosteronism Type 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Autosomal Dominant Pseudohypoaldosteronism Type 1

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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

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Animal Models for Autosomal Dominant Pseudohypoaldosteronism Type 1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Autosomal Dominant Pseudohypoaldosteronism Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1NR3C2, SCNN1G

Publications for Autosomal Dominant Pseudohypoaldosteronism Type 1

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Genetic Variations for Autosomal Dominant Pseudohypoaldosteronism Type 1

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Autosomal Dominant Pseudohypoaldosteronism Type 1:

62 (show all 13)
id Symbol AA change Variation ID 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

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

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Pathways for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

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29KEGG
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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

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Autosomal Dominant Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1triamterene44 11 2411.2NR3C2, SCNN1G
2amiloride44 28 1111.1NR3C2, SCNN1G
3cysteine449.1NR3C2, SCNN1G
4sodium44 2410.0SCNN1G, NR3C2
5progesterone44 59 28 11 2412.8NR3C2, SCNN1G

GO Terms for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

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Products for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

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  • Antibodies
  • Proteins
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Sources for Autosomal Dominant Pseudohypoaldosteronism Type 1

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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