Disease on EC 1.3.1.3 - DELTA4-3-oxosteroid 5beta-reductase
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DISEASE 
TITLE OF PUBLICATION
LINK TO PUBMED
3-oxo-5beta-steroid 4-dehydrogenase deficiency
Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.
Adrenoleukodystrophy
Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy.
Alagille Syndrome
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].
Arthritis, Rheumatoid
Circulating Biomarkers for Predicting Infliximab Response in Rheumatoid Arthritis: A Systematic Bioinformatics Analysis.
Biliary Atresia
Urinary 7alpha-hydroxy-3-oxochol-4-en-24-oic and 3-oxochola-4,6-dien-24-oic acids in infants with cholestasis.
Carcinoma, Hepatocellular
AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease.
Carcinoma, Hepatocellular
AKR1D1 regulates glucocorticoid availability and glucocorticoid receptor activation in human hepatoma cells.
Carcinoma, Hepatocellular
Diagnostic and prognostic values of AKR1C3 and AKR1D1 in hepatocellular carcinoma.
Carcinoma, Hepatocellular
Differential activity and expression of human 5?-reductase (AKR1D1) splice variants.
Carcinoma, Hepatocellular
Differential Feedback Regulation of ?4-3-Oxosteroid 5?-Reductase Expression by Bile Acids.
Cholestasis
In-Depth Dissection of the P133R Mutation in Steroid 5?-Reductase (AKR1D1): A Molecular Basis of Bile Acid Deficiency.
Cholestasis
Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature.
Cholestasis
Urinary 7alpha-hydroxy-3-oxochol-4-en-24-oic and 3-oxochola-4,6-dien-24-oic acids in infants with cholestasis.
Cholestasis, Intrahepatic
AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.
Cholestasis, Intrahepatic
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].
Cystic Fibrosis
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].
delta4-3-oxosteroid 5beta-reductase deficiency
?4-3-oxosteroid-5?-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes.
delta4-3-oxosteroid 5beta-reductase deficiency
Cholic Acid to Treat HSD3B7 and AKR1D1 Deficiencies.
delta4-3-oxosteroid 5beta-reductase deficiency
Determination of 3-oxo-delta4- and 3-oxo-delta4,6-bile acids and related compounds in biological fluids of infants with cholestasis by gas chromatography-mass spectrometry.
delta4-3-oxosteroid 5beta-reductase deficiency
Diagnosis of the first Japanese patient with 3-oxo-delta4-steroid 5beta-reductase deficiency by use of immunoblot analysis.
delta4-3-oxosteroid 5beta-reductase deficiency
Urinary 7alpha-hydroxy-3-oxochol-4-en-24-oic and 3-oxochola-4,6-dien-24-oic acids in infants with cholestasis.
Fatty Liver
AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease.
Hepatitis
In-Depth Dissection of the P133R Mutation in Steroid 5?-Reductase (AKR1D1): A Molecular Basis of Bile Acid Deficiency.
Hepatitis
Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature.
Insulin Resistance
AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease.
Liver Cirrhosis
Plasma fetal bile acids 7?-hydroxy-3-oxochol-4-en-24-oic acid and 3-oxachola-4,6-dien-24-oic acid indicate severity of liver cirrhosis.
Liver Diseases
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
Liver Diseases
AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease.
Liver Diseases
Determination of 3-oxo-delta4- and 3-oxo-delta4,6-bile acids and related compounds in biological fluids of infants with cholestasis by gas chromatography-mass spectrometry.
Liver Failure, Acute
Urinary 7alpha-hydroxy-3-oxochol-4-en-24-oic and 3-oxochola-4,6-dien-24-oic acids in infants with cholestasis.
Neoplasms
Diagnostic and prognostic values of AKR1C3 and AKR1D1 in hepatocellular carcinoma.
Neoplasms
Regulation Network and Prognostic Significance of Aldo-Keto Reductase (AKR) Superfamily Genes in Hepatocellular Carcinoma.
Niemann-Pick Diseases
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].
Non-alcoholic Fatty Liver Disease
AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease.
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