blue diaper syndrome
MONDO:0008877Mondo
Findings
No curated finding names blue diaper syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Blue Diaper syndrome is a hereditary metabolic disorder characterized by hypercalcaemia with nephrocalcinosis and indicanuria.
Definition from the Mondo Disease Ontology (MONDO:0008877), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Blue urineHPOHP:0040317
- Very frequent (80% to 99% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- HypercalcemiaHPOHP:0003072
- Frequent (30% to 79% of cases)
- Increased body weightHPOHP:0004324
- Frequent (30% to 79% of cases)
- NephrocalcinosisHPOHP:0000121
- Frequent (30% to 79% of cases)
- Decreased circulating T4 concentrationHPOHP:0031507
- Occasional (5% to 29% of cases)
- Elevated circulating hepatic transaminase concentration
Show the remaining 1
- Abnormal circulating tryptophan concentrationHPOHP:0004365
Where it sits
Other names
2 names
Resolves to: blue diaper syndrome
- Also called
- Drummond syndromefamilial hypercalcemia-nephrocalcinosis-indicanuria syndrome