Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies.
A syndrome consisting of chronic intrahepatic cholestasis with retention of bile acids but with normalization of bile pigment excretion ahd blood lipids, peripheral pulmonary stenosis, vertebral anomalies and a characteristic facies is described in six patients, including a father and his daughter. An autosomal dominant mode of inheritance is suggested.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000410:Alanine Transaminase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D002779:Cholestasis / Q000235:genetics*; D002784:Cholesterol / Q000097:blood; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006337:Heart Murmurs; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008099:Liver / Q000473:pathology; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000235:genetics*; D013577:Syndrome
D002784:Cholesterol; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase