Pseudohypoaldosteronism, Type I, Autosomal Dominant (PHA1A)

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OMIM 57 177735 Disease Ontology 12 DOID:0060855 MeSH 44 D011546 Orphanet 59 ORPHA171871 UMLS via Orphanet 74 C1449842

ICD10 via Orphanet 34 N25.8 MedGen 42 C1449842 SNOMED-CT via HPO 69 263681008 88213004 36440009 432788009 59455009 34095006 249497008 300359004 422400008 267060006 62315008 14140009 166689004 238142003 45007003 89627008 77098009 78164000 more UMLS 73 C1449843 C1449842

OMIM : ⁵⁷ Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I (summary by Geller et al., 1998). Autosomal recessive pseudohypoaldosteronism type I (PHA1B; 264350), caused by mutation in any one of 3 genes encoding the epithelial sodium channel (ENaC), is a similar but more severe systemic disorder with persistence into adulthood. (177735)

MalaCards based summary : Pseudohypoaldosteronism, Type I, Autosomal Dominant, also known as autosomal dominant pseudohypoaldosteronism type 1, is related to pseudohypoaldosteronism, type i, autosomal recessive and pseudohypoaldosteronism, and has symptoms including vomiting and diarrhea. 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 glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drug Cefepime has been mentioned in the context of this disorder. Affiliated tissues include kidney, cortex and heart, and related phenotypes are failure to thrive and hypotension

Disease Ontology : ¹² A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has material basis in heterozygous mutation in the NR3C2 gene on chromosome 4q31.

NIH Rare Diseases : ⁵³ Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. Patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. Autosomal dominant pseudohypoaldosteronism type 1 (PHA1A) exhibits autosomal dominant inheritance with variable expression. It is caused by by mutations in the mineralocorticoid receptor gene (NR3C2).  

UniProtKB/Swiss-Prot : ⁷⁵ Pseudohypoaldosteronism 1, autosomal dominant: A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment.

Clinical features from OMIM:

177735

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