MCID: ATS023
MIFTS: 25

Autosomal Recessive Pseudohypoaldosteronism Type 1 malady

Summaries for Autosomal Recessive Pseudohypoaldosteronism Type 1

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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 and pseudohypoaldosteronism type 1. 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. Related mouse phenotypes are normal and renal/urinary system.

Aliases & Classifications for Autosomal Recessive Pseudohypoaldosteronism Type 1

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43NIH Rare Diseases, 22GTR, 20GeneTests, 61UMLS
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Aliases & Descriptions:

autosomal recessive pseudohypoaldosteronism type 1 43
pseudohypoaldosteronism type 1 autosomal recessive 43 22
pseudohypoaldosteronism type 1, recessive 43 20
pseudohypoaldosteronism, type i, autosomal recessive 61
generalized pseudohypoaldosteronism type 1 43
generalized pha1 43
pha1b 43


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

idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism30.7SCNN1A, SCNN1G, SCNN1B
2pseudohypoaldosteronism type 130.4SCNN1B, SCNN1A, SCNN1G
3liddle syndrome30.4SCNN1A, SCNN1G, SCNN1B
4autosomal dominant pseudohypoaldosteronism type 110.0
5metabolic acidosis10.0SCNN1G
6hypertension10.0SCNN1B, SCNN1A, SCNN1G

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



Diseases related to autosomal recessive pseudohypoaldosteronism type 1

Clinical Features for Autosomal Recessive Pseudohypoaldosteronism Type 1

Drugs & Therapeutics for Autosomal Recessive Pseudohypoaldosteronism Type 1

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Autosomal Recessive Pseudohypoaldosteronism Type 1

Drug clinical trials:

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Genetic Tests for Autosomal Recessive Pseudohypoaldosteronism Type 1

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20GeneTests, 22GTR
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Genetic tests related to Autosomal Recessive Pseudohypoaldosteronism Type 1:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 1, Recessive20 SCNN1G
2 Pseudohypoaldosteronism Type 1 Autosomal Recessive22

Anatomical Context for Autosomal Recessive Pseudohypoaldosteronism Type 1

Animal Models for Autosomal Recessive Pseudohypoaldosteronism Type 1 or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Autosomal Recessive Pseudohypoaldosteronism Type 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.5SCNN1G, SCNN1A, SCNN1B
2MP:00053678.4SCNN1G, SCNN1A, SCNN1B
3MP:00053888.2SCNN1G, SCNN1A, SCNN1B

Publications for Autosomal Recessive Pseudohypoaldosteronism Type 1

Genetic Variations for Autosomal Recessive Pseudohypoaldosteronism Type 1

Expression for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

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1BioGPS, 15Gene 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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52QIAGEN, 54Reactome, 30KEGG, 50PharmGKB, 12EMD 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
Hide members
8.5SCNN1G, SCNN1A, SCNN1B
2
Hide members
8.5SCNN1B, SCNN1A, SCNN1G
3
Hide members
8.5SCNN1B, SCNN1A, SCNN1G
4
Hide members
8.5SCNN1B, SCNN1A, SCNN1G
5
Hide members
8.5SCNN1B, SCNN1A, SCNN1G
6
Hide members
8.5SCNN1A, SCNN1G, SCNN1B
78.5SCNN1B, SCNN1A, SCNN1G
8
CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
8.5SCNN1B, SCNN1A, SCNN1G
98.5SCNN1B, SCNN1A, SCNN1G
108.5SCNN1A, SCNN1G, SCNN1B
11
NO-dependent CFTR activation (normal and CF)
8.5SCNN1B, SCNN1A, SCNN1G

Compounds for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
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Compounds related to Autosomal Recessive Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium45 249.5SCNN1G, SCNN1A, SCNN1B
2triamterene45 11 2410.4SCNN1G, SCNN1A, SCNN1B
3amiloride45 29 1110.2SCNN1G, SCNN1A, SCNN1B

GO Terms for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

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16Gene Ontology
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Cellular components related to Autosomal Recessive Pseudohypoaldosteronism Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163248.5SCNN1G, SCNN1A, SCNN1B
2sodium channel complexGO:0347068.4SCNN1G, SCNN1A, SCNN1B
3external side of plasma membraneGO:0098978.2SCNN1G, SCNN1A, SCNN1B

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

idNameGO IDScoreTop Affiliating Genes
1sensory perception of tasteGO:0509098.6SCNN1B, SCNN1A, SCNN1G
2excretionGO:0075888.6SCNN1G, SCNN1A, SCNN1B
3response to stimulusGO:0508968.5SCNN1G, SCNN1B, SCNN1A
4transmembrane transportGO:0550858.5SCNN1G, SCNN1A, SCNN1B
5sodium ion transportGO:0068148.4SCNN1G, SCNN1B, SCNN1A
6ion transmembrane transportGO:0342208.2SCNN1B, SCNN1A, SCNN1G

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

idNameGO IDScoreTop Affiliating Genes
1WW domain bindingGO:0506998.5SCNN1G, SCNN1A, SCNN1B
2ligand-gated sodium channel activityGO:0152808.2SCNN1G, SCNN1A, SCNN1B

Products for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

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Sources for Autosomal Recessive Pseudohypoaldosteronism Type 1

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet