Delta-4-3-oxosteroid-5-beta-reductase deficiency

disorder

SNOMED 238035000CUI C1856127

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Giant cell hepatitis on liver biopsy

Very frequent (80-99%)HP:0200084

High blood bilirubin levels

Very frequent (80-99%)HP:0002904

Abnormal serum bile acid concentration

Frequent (30-79%)HP:0030984

Conjugated hyperbilirubinemia

Frequent (30-79%)HP:0002908

Dark urine

Frequent (30-79%)HP:0040319

Elevated alkaline phosphatase

Frequent (30-79%)HP:0003155

Enlarged liver

Frequent (30-79%)HP:0002240

Extramedullary erythropoiesis

Frequent (30-79%)HP:0001978

Fat in feces

Frequent (30-79%)HP:0002570

Fat malabsorption

Frequent (30-79%)HP:0002630

Fatty liver

Frequent (30-79%)HP:0001397

Growth delay as children

Frequent (30-79%)HP:0008897

Hepatic failure

Frequent (30-79%)HP:0001399

Increased lactate dehydrogenase level

Frequent (30-79%)HP:0025435

Increased liver function tests

Frequent (30-79%)HP:0002910

Jaundice, neonatal

Frequent (30-79%)HP:0006579

Low factor II activity

Frequent (30-79%)HP:0008151

Poor weight gain

Frequent (30-79%)HP:0001508

Prolonged activated partial thromboplastin time

Frequent (30-79%)HP:0003645

Slowed or blocked flow of bile from liver

Frequent (30-79%)HP:0001396

Vitamin E deficiency

Frequent (30-79%)HP:0100513

Yellowing of the skin

Frequent (30-79%)HP:0000952

Abnormal intrahepatic bile duct morphology

Occasional (5-29%)HP:0011040

Cystic kidney disease

Occasional (5-29%)HP:0000107

Weak and soft bones

Occasional (5-29%)HP:0002748

Abnormality of the coagulation cascade

HP:0003256

Diarrhea

HP:0002014

Impaired release of bile from liver

HP:0001406

Large spleen

HP:0001744

Related Conditions

Disorder of cholesterol catabolism(parent)

Synthetic defect of bile acids(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 238035000
UMLS CUI: C1856127
Fully Specified Name: Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.