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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 ).
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Elevated erythrocyte sedimentation rate|
|Prominent scrotal raphe|
|Proximal tapering of metacarpals|
|Congenital muscular dystrophy|
|Decreased serum ferritin|
|Increased urinary cortisol level|
|Poor gross motor coordination|
|Death in early adulthood|
|Increased cellular sensitivity to UV light|
|Superior pectus carinatum|
|Abnormality of the tonsils|
|Decreased mean corpuscular volume|
|Neoplasm of the gastrointestinal tract|
|Increased circulating renin level|
|Autosomal dominant inheritance|
|Failure to thrive|
|Hyperactive renin-angiotensin system|
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