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congenital bile acid synthesis defect 4

MeSH: C535444ORPHA: 79095

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with congenital bile acid synthesis defect 4, sourced from HPO and Orphanet clinical annotations.

Elevated circulating creatine kinase concentrationType II diabetes mellitusDecreased circulating vitamin K concentrationHomonymous hemianopiaSchizophreniaGiant cell hepatitisAbnormal circulating enzyme concentration or activityPigmentary retinopathySeizureEncephalopathySpecific learning disabilitySensorimotor neuropathyHypogonadismCataractDepressionSensory neuropathyCholelithiasisAtaxiaMental deteriorationTremorMigraineMemory impairmentStroke-like episodeHematocheziaCholestatic liver diseaseElevated circulating hepatic transaminase concentrationRhabdomyolysis

Classification & Codes

MeSH Code

C535444

Orphanet Code

ORPHA:79095
congenital bile acid synthesis defect 4
MeSHC535444
OrphanetORPHA:79095
Treatments0 drug(s)
Symptoms on record27 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO