Synonym(s): - 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease Entire classification		Classification (ICD10): - Diseases of the digestive system - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C535442
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
HSD3B7	Q9H2F3	607764

- Abnormal hepatic enzymes / transaminases
- Autosomal recessive inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Functional anomalies of the liver and the biliary tract
- Hepatitis / icterus / cholestasis
- Hepatomegaly / liver enlargement (excluding storage disease)
- Malabsorption / chronic diarrhea / steatorrhea

- Clotting / hemostasis disorders
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Splenomegaly

- Cirrhosis
- Early death / lethality
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Night blindness / hemeralopia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Peripheral neuropathy
- Pruritus / itching