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blue diaper syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

blue diaper syndrome

MONDO:0008877

Also known as:Drummond syndromefamilial hypercalcemia-nephrocalcinosis-indicanuria syndromehypercalcemia, familial, with nephrocalcinosis and indicanuria

Overview

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

GeneticsAutosomal recessive, X-linked

Clinical Presentation

Features include: Nephrocalcinosis, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, and Hypercalcemia.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Nephrocalcinosis

Explore clinical features

Diagnosis

Biomarker and diagnostic research for blue diaper syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for blue diaper syndrome.

144 publications have been identified in PubMed for blue diaper syndrome. Research spans Epidemiology / Natural History (25%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Disease patterns and progression	36	25%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:211000

Orphanet

European rare disease database

Orphanet:94086

GARD

Genetic and Rare Diseases Info Center

GARD:5939

Questions for Your Care Team

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blue diaper syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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