Blue diaper syndrome

Summary

Blue diaper syndrome (MONDO:0008877) is a disease. A subtype of inborn disorder of amino acid transport — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 12

Clinical features

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO ID	Term	Frequency
HP:0040317	Blue urine	Very frequent (80-99%)
HP:0000121	Nephrocalcinosis	Frequent (30-79%)
HP:0002014	Diarrhea	Frequent (30-79%)
HP:0003072	Hypercalcemia	Frequent (30-79%)
HP:0004324	Increased body weight	Frequent (30-79%)
HP:0001942	Metabolic acidosis	Occasional (5-29%)
HP:0001988	Recurrent hypoglycemia	Occasional (5-29%)
HP:0002905	Hyperphosphatemia	Occasional (5-29%)
HP:0002910	Elevated circulating hepatic transaminase concentration	Occasional (5-29%)
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	Occasional (5-29%)
HP:0031507	Decreased circulating thyroxine level	Occasional (5-29%)
HP:0031883	Increased proinsulin:insulin ratio	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	blue diaper syndrome
Mondo ID	MONDO:0008877
MeSH	C536239
OMIM	211000
Orphanet	94086
ICD-11	292681007
SNOMED CT	59531002
UMLS	C0268478
MedGen	75685
GARD	0005939
NORD	864
Is cancer (heuristic)	no

Also known as: blue diaper syndrome · Drummond syndrome · familial hypercalcemia-nephrocalcinosis-indicanuria syndrome

Disease family

This is a subtype of inborn disorder of amino acid transport. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn disorder of amino acid and other organic acid metabolism › inborn disorder of amino acid metabolism › inborn disorder of amino acid transport › blue diaper syndrome

Related subtypes (18): ocular cystinosis, juvenile nephropathic cystinosis, cystinuria, hyperdibasic aminoaciduria type 1, lysinuric protein intolerance, dicarboxylic aminoaciduria, Hartnup disease, histidinuria due to a renal tubular defect, iminoglycinuria, oculocerebrorenal syndrome, hypotonia-cystinuria syndrome, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, episodic ataxia type 6, progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, disorder of neutral amino acid transport, autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome, nephropathic infantile cystinosis, undetermined early-onset epileptic encephalopathy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.