MCID: ATS017
MIFTS: 39

Autosomal Dominant Pseudohypoaldosteronism Type 1 malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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Summaries for Autosomal Dominant Pseudohypoaldosteronism Type 1

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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 pseudohypoaldosteronism type 1. 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

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43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 36MESH via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 49 
Rare renal diseases


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 62
pseudohypoaldosteronism type i, autosomal dominant 47
pseudohypoaldosteronism, type i 62
pseudohypoaldosteronism type 1 49
pelger-huet anomaly 62
pha type 1 49
renal pha1 43
pha1a 43


External Ids:

ICD10 via Orphanet26 N25.8
MESH via Orphanet36 D011546
SNOMED-CT via Orphanet59 43941006
UMLS via Orphanet63 C0268436, C1449843

Related Diseases for Autosomal Dominant Pseudohypoaldosteronism Type 1

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17GeneCards, 18GeneDecks
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Diseases in the Autosomal Dominant Pseudohypoaldosteronism Type 1 family:

Autosomal Recessive Pseudohypoaldosteronism Type 1

Diseases related to Autosomal Dominant Pseudohypoaldosteronism Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism31.0SCNN1G, NR3C2
2pseudohypoaldosteronism type 110.7
3autosomal recessive pseudohypoaldosteronism type 110.7
4congenital adrenal hyperplasia10.2
5hypertension10.0SCNN1G, NR3C2
6metabolic acidosis9.9SCNN1G, NR3C2

Graphical network of diseases related to Autosomal Dominant Pseudohypoaldosteronism Type 1:



Diseases related to autosomal dominant pseudohypoaldosteronism type 1

Symptoms for Autosomal Dominant Pseudohypoaldosteronism Type 1

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47OMIM
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Symptoms by clinical synopsis from OMIM:

177735

Clinical features from OMIM:

177735,264350

Drugs & Therapeutics for Autosomal Dominant Pseudohypoaldosteronism Type 1

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Autosomal Dominant Pseudohypoaldosteronism Type 1

Search NIH Clinical Center for Autosomal Dominant Pseudohypoaldosteronism Type 1

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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37MGI
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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

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52PubMed
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Articles related to Autosomal Dominant Pseudohypoaldosteronism Type 1:

idTitleAuthorsYear
1
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. (19912655)
2009
2
Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. (16757525)
2006
3
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. (16954160)
2006
4
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. (16611713)
2006
5
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. (15126534)
2004
6
Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. (12679457)
2003

Variations for Autosomal Dominant Pseudohypoaldosteronism Type 1

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Autosomal Dominant Pseudohypoaldosteronism Type 1:

64 (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

Clinvar genetic disease variations for Autosomal Dominant Pseudohypoaldosteronism Type 1:

1 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1NR3C2NR3C2, 1-BP DEL, 1226GdeletionPathogenic
2NR3C2NR3C2, 1-BP DEL, 1597TdeletionPathogenic
3NR3C2NM_000901.4(NR3C2): c.1609C> T (p.Arg537Ter)single nucleotide variantPathogenicrs121912562GRCh37Chr 4, 149356404: 149356404
4NR3C2NR3C2, IVS5, 1-BP DEL, A, +3deletionPathogenic
5NR3C2NR3C2, 1-BP INS, 2871CinsertionPathogenic
6NR3C2NM_000901.4(NR3C2): c.2771T> C (p.Leu924Pro)single nucleotide variantPathogenicrs121912563GRCh37Chr 4, 149035283: 149035283
7NR3C2NR3C2, 1-BP INS, 1354TinsertionPathogenic
8NR3C2NR3C2, 8-BP DEL, NT537deletionPathogenic
9NR3C2NM_000901.4(NR3C2): c.1935C> A (p.Cys645Ter)single nucleotide variantPathogenicrs121912564GRCh37Chr 4, 149115976: 149115976
10NR3C2NM_000901.4(NR3C2): c.2327A> G (p.Gln776Arg)single nucleotide variantPathogenicrs121912565GRCh37Chr 4, 149075740: 149075740
11NR3C2NM_000901.4(NR3C2): c.1897G> A (p.Gly633Arg)single nucleotide variantPathogenicrs121912566GRCh37Chr 4, 149181130: 149181130
12NR3C2NM_000901.4(NR3C2): c.2936T> C (p.Leu979Pro)single nucleotide variantPathogenicrs121912567GRCh37Chr 4, 149002514: 149002514
13NR3C2NM_000901.4(NR3C2): c.488C> G (p.Ser163Ter)single nucleotide variantPathogenicrs121912568GRCh37Chr 4, 149357525: 149357525
14NR3C2NM_000901.4(NR3C2): c.2839C> T (p.Arg947Ter)single nucleotide variantPathogenicrs121912569GRCh37Chr 4, 149002611: 149002611
15NR3C2NM_000901.4(NR3C2): c.1308T> A (p.Cys436Ter)single nucleotide variantPathogenicrs121912570GRCh37Chr 4, 149356705: 149356705
16NR3C2NM_000901.4(NR3C2): c.2017C> T (p.Arg673Ter)single nucleotide variantPathogenicrs121912571GRCh37Chr 4, 149076050: 149076050
17NR3C2NM_000901.4(NR3C2): c.2024C> G (p.Ser675Ter)single nucleotide variantPathogenicrs121912572GRCh37Chr 4, 149076043: 149076043
18NR3C2NM_000901.4(NR3C2): c.2453C> T (p.Ser818Leu)single nucleotide variantPathogenicrs121912573GRCh37Chr 4, 149073677: 149073677
19NR3C2NM_000901.4(NR3C2): c.2915A> G (p.Glu972Gly)single nucleotide variantPathogenicrs121912574GRCh37Chr 4, 149002535: 149002535

Expression for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

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2BioGPS, 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

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50PathCards, 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

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45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Autosomal Dominant Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1triamterene45 24 1111.2SCNN1G, NR3C2
2amiloride45 29 1111.2SCNN1G, NR3C2
3sodium45 2410.1NR3C2, SCNN1G
4tyrosine459.1SCNN1G, NR3C2
5progesterone45 29 61 24 1113.0NR3C2, SCNN1G
6cysteine458.8SCNN1G, NR3C2

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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  • Antibodies

Sources for Autosomal Dominant Pseudohypoaldosteronism Type 1

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet