3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency

disorder

SNOMED 238033007CUI C1843116

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.

Reduced C27 3beta-HSD activity in cultured fibroblasts

Always present (100%)HP:6000825

Abnormal liver function

Very frequent (80-99%)HP:0002910

Biliary tract abnormality

Very frequent (80-99%)HP:0001080

Enlarged liver

Very frequent (80-99%)HP:0002240

Intestinal malabsorption

Very frequent (80-99%)HP:0002024

Neonatal cholestatic liver disease

Very frequent (80-99%)HP:0006566

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Yellowing of the skin

Very frequent (80-99%)HP:0000952

Abnormality of coagulation

Frequent (30-79%)HP:0001928

Fat in feces

Frequent (30-79%)HP:0002570

Gastrointestinal haemorrhage

Frequent (30-79%)HP:0002239

Weak and soft bones

Frequent (30-79%)HP:0002748

Bleeding tendency

Occasional (5-29%)HP:0001892

Cirrhosis

Occasional (5-29%)HP:0001394

Discolored, acholic stools

Occasional (5-29%)HP:0011985

Large spleen

Occasional (5-29%)HP:0001744

Night blindness

Occasional (5-29%)HP:0000662

Osteoporosis

Occasional (5-29%)HP:0000939

Peripheral neuropathy

Occasional (5-29%)HP:0009830

Skin itching

Occasional (5-29%)HP:0000989

Abnormality of the coagulation cascade

HP:0003256

Conjugated hyperbilirubinemia

HP:0002908

Decreased circulating cholesterol level

HP:0003146

Diarrhea

HP:0002014

Fat malabsorption

HP:0002630

Giant cell hepatitis

HP:0200084

Hepatic insufficiency

HP:0001399

Impaired release of bile from liver

HP:0001406

Related Conditions

Disorder of cholesterol catabolism(parent)

Synthetic defect of bile acids(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 238033007
UMLS CUI: C1843116
Fully Specified Name: 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.