Pseudohypoaldosteronism, Type I, Autosomal Dominant (PHA1A)

Alias:
Autosomal Dominant Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism Type I, Autosomal Dominant
Pha1a
Pseudohypoaldosteronism Type 1 Autosomal Dominant
Pseudohypoaldosteronism 1, Autosomal Dominant
Pha Type I, Autosomal Dominant
Pha I, Autosomal Dominant
Autosomal Dominant Pha 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pseudohypoaldosteronism, Type I, Autosomal Dominant, also known as autosomal dominant pseudohypoaldosteronism type 1, is related to pseudohypoaldosteronism type 1 and urinary tract infection, and has symptoms including diarrhea and vomiting. An important gene associated with Pseudohypoaldosteronism, Type I, Autosomal Dominant is NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Cefepime and Cefepime-zidebactam have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are hyperkalemia and hyponatremia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
8
74
20

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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

References Literature

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IF
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