MCID: ATS017
MIFTS: 48

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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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 based summary: Autosomal Dominant Pseudohypoaldosteronism Type 1, also known as pseudohypoaldosteronism type 1 autosomal dominant, is related to pseudohypoaldosteronism type 1 and pseudohypoaldosteronism, and has symptoms including 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 are G-Beta Gamma Signaling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The compounds actinomycin d and thiazide have been mentioned in the context of this disorder. Related mouse phenotypes are normal and respiratory system.

Descriptions from OMIM:46 177735,264350

Aliases & Classifications for Autosomal Dominant Pseudohypoaldosteronism Type 1

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
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Autosomal Dominant Pseudohypoaldosteronism Type 1, Aliases & Descriptions:

Name: 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 1 48 62
Pha1a 42 62
 
Pseudohypoaldosteronism, Type I, Autosomal Dominant 62
Pseudohypoaldosteronism Type I, Autosomal Dominant 46
Pelger-Huet Anomaly 62
Pha Type 1 48
Renal Pha1 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 48 
Rare renal 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


External Ids:

ICD10 via Orphanet26 N25.8
UMLS via Orphanet63 C0268436, C1449843
MESH via Orphanet35 D011546

Related Diseases for Autosomal Dominant Pseudohypoaldosteronism Type 1

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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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Symptoms by clinical synopsis from OMIM:

177735

Clinical features from OMIM:

177735,264350

HPO human phenotypes related to Autosomal Dominant Pseudohypoaldosteronism Type 1:

(show all 15)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyperactive renin-angiotensin system HP:0000841
3 increased circulating renin level HP:0000848
4 hyperaldosteronism HP:0000859
5 failure to thrive HP:0001508
6 metabolic acidosis HP:0001942
7 dehydration HP:0001944
8 vomiting HP:0002013
9 diarrhea HP:0002014
10 hyperkalemia HP:0002153
11 hypotension HP:0002615
12 hyponatremia HP:0002902
13 infantile onset HP:0003593
14 phenotypic variability HP:0003812
15 feeding difficulties HP:0011968

Drugs & Therapeutics for Autosomal Dominant Pseudohypoaldosteronism Type 1

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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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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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MGI Mouse Phenotypes related to Autosomal Dominant Pseudohypoaldosteronism Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.5SCNN1B, SCNN1G, SCNN1A
2MP:00053888.4SCNN1G, SCNN1A, SCNN1B
3MP:00053678.1SCNN1B, SCNN1A, SCNN1G, NR3C2
4MP:00053788.1SCNN1B, SCNN1A, SCNN1G, NR3C2
5MP:00053768.0SCNN1B, SCNN1A, SCNN1G, NR3C2
6MP:00107687.7SCNN1G, SCNN1A, SCNN1B, NR3C2

Publications for Autosomal Dominant Pseudohypoaldosteronism Type 1

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Articles related to Autosomal Dominant Pseudohypoaldosteronism Type 1:

idTitleAuthorsYear
1
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. (24455331)
2013
2
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. (19912655)
2009
3
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
4
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. (16954160)
2006
5
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. (16611713)
2006
6
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. (15126534)
2004
7
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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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:

6 (show all 28)
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
20SCNN1GSCNN1G, IVS11, G-A, -1single nucleotide variantPathogenic
21SCNN1GSCNN1G, IVSAAS, G-A, -1single nucleotide variantPathogenic
22SCNN1GSCNN1G, 1-BP DEL, 1627GdeletionPathogenic
23SCNN1BNM_000336.2(SCNN1B): c.109G> A (p.Gly37Ser)single nucleotide variantPathogenicrs137852706GRCh37Chr 16, 23360029: 23360029
24SCNN1ASCNN1A, 2-BP DEL, FS144TERdeletionPathogenic
25SCNN1ANM_001038.5(SCNN1A): c.1522C> T (p.Arg508Ter)single nucleotide variantPathogenicrs137852634GRCh37Chr 12, 6458147: 6458147
26SCNN1ASCNN1A, 1-BP DEL, 1449CdeletionPathogenic
27SCNN1ASCNN1A, 1-BP DEL, 729AdeletionPathogenic
28SCNN1ANM_001038.5(SCNN1A): c.1685C> T (p.Ser562Leu)single nucleotide variantPathogenicrs137852635GRCh37Chr 12, 6457364: 6457364

Expression for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

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

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5SCNN1A, SCNN1B, SCNN1G
2
Show member pathways
8.5SCNN1B, SCNN1A, SCNN1G
3
Show member pathways
8.5SCNN1B, SCNN1A, SCNN1G
4
Show member pathways
8.5SCNN1B, SCNN1A, SCNN1G
5
Show member pathways
8.5SCNN1B, SCNN1A, SCNN1G
68.5SCNN1G, SCNN1A, SCNN1B
78.5SCNN1A, SCNN1G, SCNN1B
8
Show member pathways
8.5SCNN1G, SCNN1A, SCNN1B
98.5SCNN1G, SCNN1A, SCNN1B
10
Show member pathways
8.5SCNN1G, SCNN1B, SCNN1A
118.0NR3C2, SCNN1G, SCNN1A, SCNN1B

Compounds for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

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

idCompoundScoreTop Affiliating Genes
1actinomycin d449.1NR3C2, SCNN1A
2thiazide449.0NR3C2, SCNN1A
3nacl448.8NR3C2, SCNN1A
4triamterene44 24 1110.1NR3C2, SCNN1G, SCNN1A, SCNN1B
5amiloride44 28 1110.1SCNN1B, SCNN1A, SCNN1G, NR3C2
6sodium44 249.0SCNN1B, SCNN1A, SCNN1G, NR3C2

GO Terms for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

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Cellular components related to Autosomal Dominant Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:0347068.6SCNN1G, SCNN1A, SCNN1B
2external side of plasma membraneGO:0098978.5SCNN1G, SCNN1A, SCNN1B
3extracellular vesicular exosomeGO:0700628.5SCNN1G, SCNN1A, SCNN1B
4apical plasma membraneGO:0163248.4SCNN1B, SCNN1A, SCNN1G
5integral component of plasma membraneGO:0058878.2SCNN1G, SCNN1A, SCNN1B

Biological processes related to Autosomal Dominant Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal water homeostasisGO:0508918.7SCNN1G, SCNN1A, SCNN1B
2sodium ion homeostasisGO:0550788.7SCNN1G, SCNN1A, SCNN1B
3sensory perception of tasteGO:0509098.7SCNN1B, SCNN1A, SCNN1G
4excretionGO:0075888.6SCNN1G, SCNN1A, SCNN1B
5response to stimulusGO:0508968.6SCNN1B, SCNN1A, SCNN1G
6sodium ion transportGO:0068148.5SCNN1G, SCNN1A, SCNN1B
7transmembrane transportGO:0550858.5SCNN1G, SCNN1A, SCNN1B
8sodium ion transmembrane transportGO:0357258.4SCNN1B, SCNN1A, SCNN1G
9ion transmembrane transportGO:0342208.2SCNN1G, SCNN1A, SCNN1B

Molecular functions related to Autosomal Dominant Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ligand-gated sodium channel activityGO:0152808.4SCNN1G, SCNN1A, SCNN1B
2WW domain bindingGO:0506998.2SCNN1B, SCNN1A, SCNN1G
3protein bindingGO:0055158.0NR3C2, SCNN1G, SCNN1A, SCNN1B

Products for genes affiliated with Autosomal Dominant Pseudohypoaldosteronism Type 1

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet