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blue diaper syndrome

MeSH: C536239ORPHA: 94086

Contents

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

Overview

Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria

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 blue diaper syndrome, sourced from HPO and Orphanet clinical annotations.

Blue urineNephrocalcinosisDiarrheaHypercalcemiaIncreased body weightMetabolic acidosisRecurrent hypoglycemiaHyperphosphatemiaElevated circulating hepatic transaminase concentrationElevated circulating thyroid-stimulating hormone concentrationDecreased circulating T4 concentrationIncreased proinsulin:insulin ratio

Classification & Codes

MeSH Code

C536239

Orphanet Code

ORPHA:94086
blue diaper syndrome
MeSHC536239
OrphanetORPHA:94086
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO