MCID: ATS023
MIFTS: 35

Autosomal Recessive Pseudohypoaldosteronism Type 1 malady

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

Summaries for Autosomal Recessive Pseudohypoaldosteronism Type 1

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NIH Rare Diseases:42 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 based summary: 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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Autosomal Recessive Pseudohypoaldosteronism Type 1, Aliases & Descriptions:

Name: Autosomal Recessive Pseudohypoaldosteronism Type 1 42
Pseudohypoaldosteronism Type 1 Autosomal Recessive 42 23
Pseudohypoaldosteronism Type 1, Recessive 42 21
Pha1b 42 61
 
Pseudohypoaldosteronism, Type I, Autosomal Recessive 61
Generalized Pseudohypoaldosteronism Type 1 42
Generalized Pha1 42


Classifications:



Related Diseases for Autosomal Recessive Pseudohypoaldosteronism Type 1

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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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Drug clinical trials:

Search ClinicalTrials for Autosomal Recessive Pseudohypoaldosteronism Type 1

Search NIH Clinical Center for Autosomal Recessive Pseudohypoaldosteronism Type 1

Genetic Tests for Autosomal Recessive Pseudohypoaldosteronism Type 1

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

32
Testes

Animal Models for Autosomal Recessive Pseudohypoaldosteronism Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Autosomal Recessive Pseudohypoaldosteronism Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1SCNN1G, SCNN1A
2MP:00053678.8SCNN1G, SCNN1A

Publications for Autosomal Recessive Pseudohypoaldosteronism Type 1

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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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Expression for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

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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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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
9.1SCNN1G, SCNN1A
5
Show member pathways
9.1SCNN1G, SCNN1A
6
Show member pathways
9.1SCNN1A, SCNN1G
79.1SCNN1G, SCNN1A
89.1SCNN1A, SCNN1G
99.1SCNN1G, SCNN1A
10
Show member pathways
9.1SCNN1G, SCNN1A
119.1SCNN1G, SCNN1A

Compounds for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

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Sources:
44Novoseek, 25HMDB, 12DrugBank, 29IUPHAR
See all sources

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

idCompoundScoreTop Affiliating Genes
1sodium44 2510.1SCNN1G, SCNN1A
2triamterene44 25 1211.0SCNN1G, SCNN1A
3amiloride44 29 1210.8SCNN1G, SCNN1A

GO Terms for genes affiliated with Autosomal Recessive Pseudohypoaldosteronism Type 1

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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:0508919.3SCNN1G, SCNN1A
2sodium ion homeostasisGO:0550789.3SCNN1G, SCNN1A
3sensory perception of tasteGO:0509099.3SCNN1G, SCNN1A
4excretionGO:0075889.2SCNN1G, SCNN1A
5response to stimulusGO:0508969.2SCNN1A, SCNN1G
6sodium ion transportGO:0068149.1SCNN1G, SCNN1A
7transmembrane transportGO:0550859.1SCNN1G, SCNN1A
8sodium ion transmembrane transportGO:0357259.0SCNN1G, SCNN1A
9ion transmembrane transportGO:0342208.8SCNN1G, SCNN1A

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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  • Antibodies
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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
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet