MCID: PSD096
MIFTS: 29

Pseudohypoaldosteronism Type I, Autosomal Dominant malady

Genetic diseases, Rare diseases, Nephrological diseases, Cardiovascular diseases categories

Aliases & Classifications for Pseudohypoaldosteronism Type I, Autosomal Dominant

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Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 51Orphanet, 24GTR, 22GeneTests, 65UMLS, 28ICD10 via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Pseudohypoaldosteronism Type I, Autosomal Dominant:

Name: Pseudohypoaldosteronism Type I, Autosomal Dominant 49 11 67
Pseudohypoaldosteronism Type 1 Autosomal Dominant 45 24
Autosomal Dominant Pseudohypoaldosteronism Type 1 45 51
Pseudohypoaldosteronism Type 1, Dominant 45 22
Renal Pseudohypoaldosteronism Type 1 45 51
 
Pha1a 45 67
Pseudohypoaldosteronism, Type I, Autosomal Dominant 65
Pseudohypoaldosteronism 1, Autosomal Dominant 67
Pha Type I, Autosomal Dominant 67
Renal Pha1 45


Classifications:

Orphanet: 51 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

51
autosomal dominant pseudohypoaldosteronism type 1:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 177735
Orphanet51 171871
ICD10 via Orphanet28 N25.8
MedGen34 C1449842
MeSH36 D011546

Summaries for Pseudohypoaldosteronism Type I, Autosomal Dominant

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OMIM:49 Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal... (177735) more...

MalaCards based summary: Pseudohypoaldosteronism Type I, Autosomal Dominant, also known as pseudohypoaldosteronism type 1 autosomal dominant, is related to pseudohypoaldosteronism and pseudohypoaldosteronism, type i, and has symptoms including autosomal dominant inheritance, hyperactive renin-angiotensin system and increased circulating renin level. An important gene associated with Pseudohypoaldosteronism Type I, Autosomal Dominant is NR3C2 (Nuclear Receptor Subfamily 3, Group C, Member 2). Affiliated tissues include kidney.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Pseudohypoaldosteronism 1, autosomal dominant: A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment.

Related Diseases for Pseudohypoaldosteronism Type I, Autosomal Dominant

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Diseases in the Pseudohypoaldosteronism family:

Pseudohypoaldosteronism, Type Iia Pseudohypoaldosteronism, Type Iie
pseudohypoaldosteronism type i, autosomal dominant Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Type I Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Type Iib Transient Pseudohypoaldosteronism

Diseases related to Pseudohypoaldosteronism Type I, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism10.8
2pseudohypoaldosteronism, type i10.1

Symptoms for Pseudohypoaldosteronism Type I, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

177735

Clinical features from OMIM:

177735

HPO human phenotypes related to Pseudohypoaldosteronism Type I, Autosomal Dominant:

(show all 16)
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 pseudohypoaldosteronism HP:0008242
16 feeding difficulties HP:0011968

Drugs & Therapeutics for Pseudohypoaldosteronism Type I, Autosomal Dominant

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pseudohypoaldosteronism Type I, Autosomal Dominant

Genetic Tests for Pseudohypoaldosteronism Type I, Autosomal Dominant

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Genetic tests related to Pseudohypoaldosteronism Type I, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 1, Dominant22 NR3C2
2 Pseudohypoaldosteronism Type 1 Autosomal Dominant24

Anatomical Context for Pseudohypoaldosteronism Type I, Autosomal Dominant

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MalaCards organs/tissues related to Pseudohypoaldosteronism Type I, Autosomal Dominant:

33
Kidney

Animal Models for Pseudohypoaldosteronism Type I, Autosomal Dominant or affiliated genes

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Publications for Pseudohypoaldosteronism Type I, Autosomal Dominant

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Variations for Pseudohypoaldosteronism Type I, Autosomal Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism Type I, Autosomal Dominant:

67 (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 Pseudohypoaldosteronism Type I, Autosomal Dominant:

5 (show all 19)
id Gene Variation 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 Pseudohypoaldosteronism Type I, Autosomal Dominant

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

Pathways for genes affiliated with Pseudohypoaldosteronism Type I, Autosomal Dominant

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GO Terms for genes affiliated with Pseudohypoaldosteronism Type I, Autosomal Dominant

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Sources for Pseudohypoaldosteronism Type I, Autosomal Dominant

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet