Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive (PHA1B1)

Alias:

Autosomal Recessive Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism, Type I, Autosomal Recessive

Pseudohypoaldosteronism

Pha1b1

Pha1b

Pseudohypoaldosteronism Type I, Autosomal Recessive

Pseudohypoaldosteronism Type 1 Autosomal Recessive

Pseudohypoaldosteronism 1b1, Autosomal Recessive

Multisystem Pseudohypoaldosteronism

Pha Type I, Autosomal Recessive

Pseudohypoaldosteronism, Type I

Pha I, Autosomal Recessive

Autosomal Recessive Pha 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive, also known as autosomal recessive pseudohypoaldosteronism type 1, is related to generalized pseudohypoaldosteronism type 1 and pseudohypoaldosteronism type 1, and has symptoms including diarrhea and vomiting. An important gene associated with Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive is SCNN1A (Sodium Channel Epithelial 1 Subunit Alpha), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and G-Beta Gamma Signaling. The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include kidney and lung, and related phenotypes are hypotension and dehydration

Related ID：

MALACARDS：PSD122

OMIM：264350

MESH：D011546