ORPHA:1552
Currarino syndrome
Synonyms: Currarino triad
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- All ages
- Status
- active
A rare developmental defect during embryogenesis characterized by the triad of anorectal malformations, presacral mass and sacral anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Currarino syndrome | Currarino triad |
| fr | Syndrome de Currarino | Triade de Currarino |
| de | Currarino-Syndrom | Currarino-Triade |
| es | Síndrome de Currarino | Tríada de Currarino |
| it | Sindrome di Currarino | Sindrome di Currarino |
| nl | Syndroom van Currarino | Triade van Currarino |
| pt | Síndrome Currarino | Tríade de Currarino |
| pl | Triada Currarino | Zespół Currarino |
| cs | Currarinova triáda | Currarinův syndrom |
| uk | Синдром Кураріно | Тріада Кураріно |
| zh | Currarino综合征 | Currarino三联征 |
| tr | Currarino sendromu | Currarino triyadı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176450 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008305 | E | validated | |
| MeSH | C536221 | E | validated | |
| UMLS | C1531773 | E | validated | |
| GARD | 1626 | E | validated | |
| MedDRA | 10079857 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:180148Syndromic uterovaginal malformation
rare gynecological and obstetric diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MNX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4979 | ENSG00000130675 | 142994 | 7q36.3 | motor neuron and pancreas homeobox 1 | 22820079[PMID]_23370340[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | 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.
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HPO phenotypes
30 annotations · validated 2024-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008517 | Aplasia/Hypoplasia of the sacrum | |
| HP:0030736 | Sacrococcygeal teratoma | |
| Frequent (79-30%) | ||
| HP:0032155 | Abdominal cramps | |
| HP:0003270 | Abdominal distention | |
| HP:0002023 | Anal atresia | |
| HP:0002025 | Anal stenosis | |
| HP:0007293 | Anterior sacral meningocele | |
| HP:0012450 | Chronic constipation | |
| HP:0009790 | Hemisacrum | |
| HP:0003419 | Low back pain | |
| Occasional (29-5%) | ||
| HP:0002242 | Abnormal intestine morphology | |
| HP:0010447 | Anal fistula | |
| HP:0000813 | Bicornuate uterus | |
| HP:0025247 | Dermoid cyst | |
| HP:0200040 | Epidermoid cyst | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000238 | Hydrocephalus | |
| HP:0030451 | Mesenteric cyst | |
| HP:0000011 | Neurogenic bladder | |
| HP:0000125 | Pelvic kidney | |
| HP:0009793 | Presacral teratoma | |
| HP:6000336 | Rectal duplication | |
| HP:0012033 | Sacral lipoma | |
| HP:0001153 | Septate vagina | |
| HP:0034231 | Sigmoid kidney | |
| HP:0002144 | Tethered cord | |
| HP:0000076 | Vesicoureteral reflux | |
| Very rare (<4-1%) | ||
| HP:0100559 | Lower limb asymmetry | |
| HP:0001287 | Meningitis | |
| HP:0000010 | Recurrent urinary tract infections | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 33618589[PMID]_27887934[PMID]_36265244[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1552
- This record as JSON: /data/d/1552.json