MCID: ATS023
MIFTS: 33

Autosomal Recessive Pseudohypoaldosteronism Type 1 malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Autosomal Recessive Pseudohypoaldosteronism Type 1

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. the disorder involves multiple organ systems and is especially dangerous in the newborn period. laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the blood. respiratory tract infections are common in affected children. treatment involves aggressive salt replacement and control of hyperkalemia. the disorder may become less severe with age. autosomal recessive pseudohypoaldosteronism type 1 (pha1b) is transmitted in an autosomal recessive manner and is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (scnn1a, scnn1b and scnn1g). last updated: 12/2/2011

MalaCards: Autosomal Recessive Pseudohypoaldosteronism Type 1, also known as pseudohypoaldosteronism type 1 autosomal recessive, is related to pseudohypoaldosteronism type 1 and pseudohypoaldosteronism. An important gene associated with Autosomal Recessive Pseudohypoaldosteronism Type 1 is SCNN1G (sodium channel, non-voltage-gated 1, gamma subunit), and among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and G-Beta Gamma Signaling. The compounds sodium and triamterene have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotypes are respiratory system and renal/urinary system.

Aliases & Classifications for Autosomal Recessive Pseudohypoaldosteronism Type 1

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44NIH Rare Diseases, 23GTR, 21GeneTests, 63UMLS
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Classifications:

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


Aliases & Descriptions:

autosomal recessive pseudohypoaldosteronism type 1 44
pseudohypoaldosteronism type 1 autosomal recessive 44 23
pseudohypoaldosteronism type 1, recessive 44 21
pseudohypoaldosteronism, type i, autosomal recessive 63
generalized pseudohypoaldosteronism type 1 44
generalized pha1 44
pha1b 44


Related Diseases for Autosomal Recessive Pseudohypoaldosteronism Type 1

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18GeneCards, 19GeneDecks
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Diseases in the Autosomal Dominant Pseudohypoaldosteronism Type 1 family:

autosomal recessive pseudohypoaldosteronism type 1

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

idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism type 130.9SCNN1A, SCNN1G
2pseudohypoaldosteronism30.7SCNN1A, SCNN1G
3autosomal dominant pseudohypoaldosteronism type 110.1
4hypertension10.0SCNN1A, SCNN1G
5liddle syndrome10.0SCNN1A, SCNN1G

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



Diseases related to autosomal recessive pseudohypoaldosteronism type 1

Symptoms for Autosomal Recessive Pseudohypoaldosteronism Type 1

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Drugs & Therapeutics for Autosomal Recessive Pseudohypoaldosteronism Type 1

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Autosomal Recessive Pseudohypoaldosteronism Type 1

Search CenterWatch for Autosomal Recessive Pseudohypoaldosteronism Type 1

Genetic Tests for Autosomal Recessive Pseudohypoaldosteronism Type 1

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21GeneTests, 23GTR
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Genetic tests related to Autosomal Recessive Pseudohypoaldosteronism Type 1:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 1, Recessive21 SCNN1G
2 Pseudohypoaldosteronism Type 1 Autosomal Recessive23

Anatomical Context for Autosomal Recessive Pseudohypoaldosteronism Type 1

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34MalaCards
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MalaCards organs/tissues related to Autosomal Recessive Pseudohypoaldosteronism Type 1:

34
Testes

Animal Models for Autosomal Recessive Pseudohypoaldosteronism Type 1 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Autosomal Recessive Pseudohypoaldosteronism Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1SCNN1G, SCNN1A
2MP:00053678.8SCNN1G, SCNN1A

Publications for Autosomal Recessive Pseudohypoaldosteronism Type 1

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53PubMed
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Articles related to Autosomal Recessive Pseudohypoaldosteronism Type 1:

idTitleAuthorsYear
1
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. (23416952)
2013
2
Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1. (11014928)
2000
3
Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. (7593448)
1995

Variations for Autosomal Recessive Pseudohypoaldosteronism Type 1

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Autosomal Recessive Pseudohypoaldosteronism Type 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1SCNN1BNM_000336.2(SCNN1B): c.109G> A (p.Gly37Ser)single nucleotide variantPathogenicrs137852706GRCh37Chr 16, 23360029: 23360029
2SCNN1ANM_001038.5(SCNN1A): c.1522C> T (p.Arg508Ter)single nucleotide variantPathogenicrs137852634GRCh37Chr 12, 6458147: 6458147
3SCNN1ANM_001038.5(SCNN1A): c.1685C> T (p.Ser562Leu)single nucleotide variantPathogenicrs137852635GRCh37Chr 12, 6457364: 6457364

Expression for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

Search GEO for disease gene expression data for Autosomal Recessive Pseudohypoaldosteronism Type 1.

Pathways for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

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51PathCards, 54QIAGEN, 56Reactome, 31KEGG, 52PharmGKB, 61Thomson Reuters, 13EMD Millipore
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Pathways related to Autosomal Recessive Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SCNN1G, SCNN1A
2
Show member pathways
9.1SCNN1A, SCNN1G
3
Show member pathways
9.1SCNN1G, SCNN1A
4
Show member pathways
9.1SCNN1A, SCNN1G
5
Show member pathways
9.1SCNN1G, SCNN1A
6
Show member pathways
9.1SCNN1A, SCNN1G
79.1SCNN1A, SCNN1G
89.1SCNN1A, SCNN1G
99.1SCNN1G, SCNN1A
10
Show member pathways
9.1SCNN1A, SCNN1G
119.1SCNN1A, SCNN1G

Compounds for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

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46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR
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Compounds related to Autosomal Recessive Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium46 2510.1SCNN1G, SCNN1A
2triamterene46 25 1211.0SCNN1G, SCNN1A
3amiloride46 30 1210.8SCNN1G, SCNN1A

GO Terms for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

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17Gene Ontology
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Cellular components related to Autosomal Recessive Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:0347069.1SCNN1G, SCNN1A
2integral component of plasma membraneGO:0058879.1SCNN1G, SCNN1A
3external side of plasma membraneGO:0098979.0SCNN1G, SCNN1A
4apical plasma membraneGO:0163248.8SCNN1G, SCNN1A

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal water homeostasisGO:0508919.3SCNN1A, SCNN1G
2sodium ion homeostasisGO:0550789.3SCNN1A, SCNN1G
3sensory perception of tasteGO:0509099.3SCNN1G, SCNN1A
4excretionGO:0075889.2SCNN1A, SCNN1G
5response to stimulusGO:0508969.2SCNN1A, SCNN1G
6sodium ion transportGO:0068149.1SCNN1G, SCNN1A
7transmembrane transportGO:0550859.1SCNN1G, SCNN1A
8sodium ion transmembrane transportGO:0357259.0SCNN1A, SCNN1G
9ion transmembrane transportGO:0342208.8SCNN1A, SCNN1G

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

idNameGO IDScoreTop Affiliating Genes
1WW domain bindingGO:0506999.1SCNN1G, SCNN1A
2ligand-gated sodium channel activityGO:0152808.8SCNN1G, SCNN1A

Products for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

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Sources for Autosomal Recessive Pseudohypoaldosteronism Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet