Pseudohypoaldosteronism Type 1 (PHA1)

Alias:
Pha1
Pseudohypoaldosteronism Type I
Pha Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pseudohypoaldosteronism Type 1, also known as pha1, is related to generalized pseudohypoaldosteronism type 1 and pseudohypoaldosteronism, type ib1, autosomal recessive. An important gene associated with 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. The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include kidney and colon, and related phenotypes are normal and renal/urinary system
Related ID:
ICD11:1576878036

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
1-9/100000
3
23
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Medical Symptom

#
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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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