Generalized Pseudohypoaldosteronism Type 1

Alias:
Autosomal Recessive Pseudohypoaldosteronism Type 1
Autosomal Recessive Pha1
Generalized Pha1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Generalized Pseudohypoaldosteronism Type 1, also known as autosomal recessive pseudohypoaldosteronism type 1, is related to pseudohypoaldosteronism, type ib1, autosomal recessive and pseudohypoaldosteronism type 1. An important gene associated with Generalized Pseudohypoaldosteronism Type 1 is SCNN1A (Sodium Channel Epithelial 1 Subunit Alpha), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Olfactory Signaling Pathway. Affiliated tissues include kidney and colon, and related phenotypes are hyponatremia and hyperkalemia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
1-9/1000000
3
23
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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