PHA1A
MCID: PSD096
MIFTS: 42

Pseudohypoaldosteronism Type I, Autosomal Dominant (PHA1A) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Cardiovascular diseases

Aliases & Classifications for Pseudohypoaldosteronism Type I, Autosomal Dominant

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Aliases & Descriptions for Pseudohypoaldosteronism Type I, Autosomal Dominant:

Name: Pseudohypoaldosteronism Type I, Autosomal Dominant 52 70 12
Autosomal Dominant Pseudohypoaldosteronism Type 1 11 48 54 13
Pha1a 11 48 70
Pseudohypoaldosteronism, Type I, Autosomal Dominant 52 68
Pseudohypoaldosteronism 1, Autosomal Dominant 70 27
Pseudohypoaldosteronism Type 1, Dominant 48 24
 
Renal Pseudohypoaldosteronism Type 1 48 54
Pseudohypoaldosteronism Type 1 Autosomal Dominant 48
Pha Type I, Autosomal Dominant 70
Autosomal Dominant Pha 1 11
Renal Pha1 48

Characteristics:

Orphanet epidemiological data:

54
autosomal dominant pseudohypoaldosteronism type 1:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
pseudohypoaldosteronism type i, autosomal dominant:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset, phenotypic variability

Classifications:

Orphanet: 54 
Rare renal diseases


External Ids:

OMIM52 177735
Disease Ontology11 DOID:0060855
ICD1030 N25.8
MeSH39 D011546
Orphanet54 ORPHA171871
ICD10 via Orphanet31 N25.8
MedGen37 C1449842

Summaries for Pseudohypoaldosteronism Type I, Autosomal Dominant

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OMIM:52 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 autosomal dominant pseudohypoaldosteronism type 1, is related to pseudohypoaldosteronism, type i and pseudohypoaldosteronism, and has symptoms including diarrhea, diarrhea and vomiting. An important gene associated with Pseudohypoaldosteronism Type I, Autosomal Dominant is NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2), and among its related pathways are PI3K / Akt Signaling and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. Affiliated tissues include kidney, and related mouse phenotypes are growth/size/body region and homeostasis/metabolism.

Disease Ontology:11 A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has material basis in heterozygous mutation in the NR3C2 gene on chromosome 4q31.

NIH Rare Diseases:48 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:70 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:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism, type i10.8
2pseudohypoaldosteronism10.4
3lyz-related familial visceral amyloidosis10.1SCNN1B, SCNN1G
4lztfl1- related bardet-biedl syndrome10.1SCNN1B, SCNN1G
5dystonia 2510.0NR3C2, REN
6prostate neuroendocrine neoplasm10.0NR3C2, REN
7hypoaldosteronism, congenital, due to cmo i deficiency10.0NR3C2, REN
8cataract 21, multiple types10.0NR3C2, REN
9merkel cell carcinoma10.0NR3C2, REN
10esophagus squamous cell papilloma10.0NR3C2, REN
11panuveitis10.0NR3C2, REN
12familial nasal acilia10.0NR3C2, REN
13immune system organ benign neoplasm10.0NR3C2, REN
14bickerstaff brainstem encephalitis10.0SCNN1A, SCNN1B, SCNN1G
15clear cell adenocarcinoma9.9NR3C2, REN
16aorta angiosarcoma9.9NR3C2, REN
17hemorrhagic cystitis9.9NR3C2, REN
18fasciitis9.9SCNN1A, SCNN1B
19microphthalmia, isolated, with coloboma 79.9NR3C2, REN, SCNN1G
20retinitis pigmentosa9.9NR3C2, REN
21pulmonary sarcoidosis9.8NR3C2, SCNN1A, SCNN1B, SCNN1G
22malignant biphasic mesothelioma9.8REN, SCNN1B, SCNN1G
23hyperlysinemia9.7SCNN1A, SCNN1B, SGK1
24hyperaldosteronism, familial, type iii9.7NR3C2, REN, SCNN1B, SCNN1G
25lymphoproliferative syndrome 29.3NR3C2, REN, SCNN1A, SCNN1B, SCNN1G, SGK1
26bronchiectasis with or without elevated sweat chloride 39.2NR3C2, REN, SCNN1A, SCNN1B, SCNN1G, SGK1
27smith-mccort dysplasia 29.0ERAS, NR3C2, REN, SCNN1A, SCNN1B, SCNN1G

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism Type I, Autosomal Dominant:



Diseases related to pseudohypoaldosteronism type i, autosomal dominant

Symptoms & Phenotypes for Pseudohypoaldosteronism Type I, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

177735

Clinical features from OMIM:

177735

Human phenotypes related to Pseudohypoaldosteronism Type I, Autosomal Dominant:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 hyperactive renin-angiotensin system64 HP:0000841
2 increased circulating renin level64 HP:0000848
3 hyperaldosteronism64 HP:0000859
4 failure to thrive64 HP:0001508
5 metabolic acidosis64 HP:0001942
6 dehydration64 HP:0001944
7 vomiting64 HP:0002013
8 diarrhea64 HP:0002014
9 hyperkalemia64 HP:0002153
10 hypotension64 HP:0002615
11 hyponatremia64 HP:0002902
12 pseudohypoaldosteronism64 HP:0008242
13 feeding difficulties64 HP:0011968

UMLS symptoms related to Pseudohypoaldosteronism Type I, Autosomal Dominant:


diarrhea, vomiting

MGI Mouse Phenotypes related to Pseudohypoaldosteronism Type I, Autosomal Dominant according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1NR3C2, REN, SCNN1A, SCNN1B, SCNN1G, SGK1
2MP:00053768.0NR3C2, REN, SCNN1A, SCNN1B, SCNN1G, SGK1
3MP:00053677.3NR3C2, REN, SCNN1A, SCNN1B, SCNN1G, SGK1

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 Autosomal Dominant27
2 Pseudohypoaldosteronism Type 1, Dominant24 NR3C2

Anatomical Context for Pseudohypoaldosteronism Type I, Autosomal Dominant

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

36
Kidney

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:

70 (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)SNVPathogenicrs121912562GRCh37Chr 4, 149356404: 149356404
4NR3C2NR3C2, IVS5, 1-BP DEL, A, +3deletionPathogenic
5NR3C2NR3C2, 1-BP INS, 2871CinsertionPathogenic
6NR3C2NM_ 000901.4(NR3C2): c.2771T> C (p.Leu924Pro)SNVPathogenicrs121912563GRCh37Chr 4, 149035283: 149035283
7NR3C2NR3C2, 1-BP INS, 1354TinsertionPathogenic
8NR3C2NR3C2, 8-BP DEL, NT537deletionPathogenic
9NR3C2NM_ 000901.4(NR3C2): c.1935C> A (p.Cys645Ter)SNVPathogenicrs121912564GRCh37Chr 4, 149115976: 149115976
10NR3C2NM_ 000901.4(NR3C2): c.2327A> G (p.Gln776Arg)SNVPathogenicrs121912565GRCh37Chr 4, 149075740: 149075740
11NR3C2NM_ 000901.4(NR3C2): c.1897G> A (p.Gly633Arg)SNVPathogenicrs121912566GRCh37Chr 4, 149181130: 149181130
12NR3C2NM_ 000901.4(NR3C2): c.2936T> C (p.Leu979Pro)SNVPathogenicrs121912567GRCh37Chr 4, 149002514: 149002514
13NR3C2NM_ 000901.4(NR3C2): c.488C> G (p.Ser163Ter)SNVPathogenicrs121912568GRCh37Chr 4, 149357525: 149357525
14NR3C2NM_ 000901.4(NR3C2): c.2839C> T (p.Arg947Ter)SNVPathogenicrs121912569GRCh37Chr 4, 149002611: 149002611
15NR3C2NM_ 000901.4(NR3C2): c.1308T> A (p.Cys436Ter)SNVPathogenicrs121912570GRCh37Chr 4, 149356705: 149356705
16NR3C2NM_ 000901.4(NR3C2): c.2017C> T (p.Arg673Ter)SNVPathogenicrs121912571GRCh37Chr 4, 149076050: 149076050
17NR3C2NM_ 000901.4(NR3C2): c.2024C> G (p.Ser675Ter)SNVPathogenicrs121912572GRCh37Chr 4, 149076043: 149076043
18NR3C2NM_ 000901.4(NR3C2): c.2453C> T (p.Ser818Leu)SNVPathogenicrs121912573GRCh37Chr 4, 149073677: 149073677
19NR3C2NM_ 000901.4(NR3C2): c.2915A> G (p.Glu972Gly)SNVPathogenicrs121912574GRCh37Chr 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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Pathways related to Pseudohypoaldosteronism Type I, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
19.3ERAS, SGK1
2
Show member pathways
9.3NR3C2, REN
3
Show member pathways
9.1SCNN1A, SCNN1B, SCNN1G
4
Show member pathways
9.1SCNN1A, SCNN1B, SCNN1G
5
Show member pathways
9.1SCNN1A, SCNN1B, SCNN1G
69.1SCNN1A, SCNN1B, SCNN1G
79.1SCNN1A, SCNN1B, SCNN1G
88.5SCNN1A, SCNN1B, SCNN1G, SGK1
9
Show member pathways
8.5SCNN1A, SCNN1B, SCNN1G, SGK1
10
Show member pathways
8.5SCNN1A, SCNN1B, SCNN1G, SGK1
118.1NR3C2, SCNN1A, SCNN1B, SCNN1G, SGK1

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

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Cellular components related to Pseudohypoaldosteronism Type I, Autosomal Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:00163249.9SCNN1A, SCNN1B, SCNN1G
2sodium channel complexGO:00347069.1SCNN1A, SCNN1B, SCNN1G
3membraneGO:00160207.5ERAS, NR3C2, REN, SCNN1A, SCNN1B, SCNN1G
4plasma membraneGO:00058867.3ERAS, REN, SCNN1A, SCNN1B, SCNN1G, SGK1

Biological processes related to Pseudohypoaldosteronism Type I, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1excretionGO:000758810.3SCNN1B, SCNN1G
2multicellular organismal water homeostasisGO:00508919.8SCNN1A, SCNN1B, SCNN1G
3regulation of blood pressureGO:00082179.7REN, SGK1
4response to stimulusGO:00508969.7SCNN1A, SCNN1B, SCNN1G
5sensory perception of tasteGO:00509099.7SCNN1A, SCNN1B, SCNN1G
6sodium ion homeostasisGO:00550789.7SCNN1A, SCNN1B, SCNN1G
7sodium ion transmembrane transportGO:00357259.6SCNN1A, SCNN1B, SCNN1G
8ion transmembrane transportGO:00342209.2SCNN1A, SCNN1B, SCNN1G, SGK1
9sodium ion transportGO:00068148.5SCNN1A, SCNN1B, SCNN1G, SGK1

Molecular functions related to Pseudohypoaldosteronism Type I, Autosomal Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ligand-gated sodium channel activityGO:00152809.4SCNN1A, SCNN1B, SCNN1G
2WW domain bindingGO:00506999.1SCNN1A, SCNN1B, SCNN1G

Sources for Pseudohypoaldosteronism Type I, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet