kcnj1 Phenotypes

Phenotypes

XB-GENEPAGE-483959

Gene Symbol: kcnj1 Gene Name: potassium inwardly rectifying channel subfamily J member 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (49 sources): Abnormally large globe, Chondrocalcinosis, Constipation, Dehydration, Diarrhea, Failure to thrive, Fetal polyuria, Fever, Frontal bossing, Generalized muscle weakness, Global developmental delay, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypercalcemia, Hypercalciuria, Hyperchloriduria, Hyperparathyroidism, Hyperprostaglandinuria, Hypochloremia, Hypokalemia, Hypokalemic metabolic alkalosis, Hypomagnesemia, Hyposthenuria, Impaired platelet aggregation, Increased circulating renin level, Increased serum prostaglandin E2, Increased urinary potassium, Intellectual disability, Low-to-normal blood pressure, Macrocephaly, Macrotia, Muscle spasm, Nephrocalcinosis, Osteopenia, Paresthesia, Polydipsia, Polyhydramnios, Polyuria, Premature birth, Prominent forehead, Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal potassium wasting, Renal salt wasting, Seizure, Short stature, Small for gestational age, Tetany, Triangular face, Vomiting [+]
Mouse (6 sources): decreased renal glomerular filtration rate, decreased skin turgor, decreased systemic arterial blood pressure, decreased tubuloglomerular feedback response, decreased urine osmolality, postnatal lethality, incomplete penetrance
View all ortholog results at Monarch