Blue diaper syndrome
Synonyms: Drummond syndrome · Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare inborn error of metabolism characterized by early-onset diarrhea, fever, recurrent hypoglycemia, hypercalcemia with nephrocalcinosis, metabolic acidosis, and indicanuria due to bacterial degradation of malabsorbed tryptophan with excessive indole production which, upon oxidation to indigo blue, causes bluish discoloration of urine spots in the diaper of the affected infant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blue diaper syndrome | Drummond syndrome · Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome |
| fr | Maladie des langes bleus | Syndrome d'hypercalcémie familiale-néphrocalcinose-indicanurie · Syndrome de Drummond |
| de | Blue-Diaper-Syndrom | Drummond-Syndrom · Hyperkalzämie, familiäre - Nephrokalzinose - Indikanurie |
| es | Síndrome de pañal azul | Síndrome de Drummond |
| it | Sindrome del pannolino blu | |
| nl | Blauwe luier-syndroom | Blue diaper-syndroom · Familiale hypercalciëmie - nefrocalcinose - indicanurie-syndroom · Syndroom van Drummond |
| pt | Síndrome da fralda azul | Síndrome "blue diaper" · Síndrome Drummond · Síndrome hipercalcemia-nefrocalcinose-indicanúria familiar |
| pl | Zespół niebieskich pieluszek | Rodzinna hiperkalcemia - kamica nerkowa - indykanuria · Zespół Drummonda |
| cs | Syndrom modré pleny | Syndrom zahrnující familiární hyperkalcemii, nefrokalcinózu a indikanurii · Malabsorpce tryptofanu · Drummondův syndrom |
| uk | Синдром блакитних пелюшок | Синдром Драммонда · Сімейний синдром гіперкальціємії-нефрокальцинозу-індиканурії |
| zh | 蓝色尿布综合征 | 家族性高钙血症-肾钙质沉着症-尿蓝母尿综合征 |
| tr | Mavi bebek bezi sendromu | Drummond sendromu · Ailesel hiperkalsemi-nefrokalsinoz-indikanüri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211000 | E | validated | |
| ICD-10 | E70.8 | NTBT | inclusion | validated |
| ICD-11 | 5C60.Y | NTBT | index | validated |
| MONDO | 0008877 | E | validated | |
| MeSH | C536239 | E | validated | |
| UMLS | C0268478 | E | validated | |
| GARD | 5939 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79166Disorder of amino acid absorption and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
12 annotations · validated 2021-10-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040317 | Blue urine | |
| Frequent (79-30%) | ||
| HP:0002014 | Diarrhea | |
| HP:0003072 | Hypercalcemia | |
| HP:0004324 | Increased body weight | |
| HP:0000121 | Nephrocalcinosis | |
| Occasional (29-5%) | ||
| HP:0031507 | Decreased circulating thyroxine level | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | |
| HP:0002905 | Hyperphosphatemia | |
| HP:0031883 | Increased proinsulin:insulin ratio | |
| HP:0001942 | Metabolic acidosis | |
| HP:0001988 | Recurrent hypoglycemia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29610180[PMID]_14246093[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94086
- This record as JSON: /data/d/94086.json