ORPHA:2704
Urofacial syndrome
Synonyms: Hydronephrosis-inverted smile syndrome · Inverted smile-neurogenic bladder syndrome · Ochoa facial syndrome · Ochoa syndrome · Partial facial palsy with urinary abnormalities
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare syndromic urinary tract malformation characterized by the association of severe voiding dysfunction and inversion of facial expression when the child smiles or cries.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Urofacial syndrome | Hydronephrosis-inverted smile syndrome · Inverted smile-neurogenic bladder syndrome · Ochoa facial syndrome · Ochoa syndrome · Partial facial palsy with urinary abnormalities |
| fr | Syndrome urofacial | Syndrome d'Ochoa · Syndrome d'hydronéphrose-sourire inversé · Syndrome de paralysie faciale partielle-anomalies urinaires · Syndrome de sourire inversé-vessie neurologique · Syndrome facial d'Ochoa · Syndrome uro-facial |
| de | Urofaziales Syndrom | Invertiertes Lächeln - okkulte neuropathische Blase · Invertiertes Lächeln-neurogene Harnblase-Syndrom · Ochoa-Syndrom · Partielle Gesichtslähmung mit Anomalie der Harnwege · Syndrom der Hydronephrose mit umgekehrtem Lächeln |
| es | Síndrome urofacial | Parálisis facial parcial con anomalías del tracto urinario · Síndrome de Ochoa · Síndrome de hidronefrosis-sonrisa invertida · Síndrome de sonrisa invertida-vejiga neurógena · Síndrome facial de Ochoa |
| it | Sindrome urofacciale | Idronefrosi - sorriso invertito · Paralisi facciale parziale associata ad anomalie urinarie · Sindrome di Ochoa · Sindrome facciale di Ochoa · Sindrome idronefrosi-sorriso invertito · Sindrome sorriso invertito-vescica nefropatica occulta · Sorriso invertito - vescica nefropatica occulta |
| nl | Urofaciaal syndroom | Gedeeltelijke aangezichtsverlamming met urinewegafwijkingen · Hydronefrose - omgekeerde glimlach-syndroom · Omgekeerde glimlach - neurogene blaas-syndroom · Syndroom van Ochoa |
| pt | Síndrome urofacial | Paralisia facial parcial com anomalias urinárias · Síndrome Ochoa · Síndrome de hidronefrose-sorriso invertido · Síndrome de sorriso invertido-bexiga neurogénica · Síndrome facial Ochoa |
| pl | Zespół Ochoa | Częściowy paraliż twarzy z wadami układu moczowego · Odwrócony uśmiech - pęcherz neurogenny · Wodonercze - odwrócony uśmiech · Zespół moczowo-twarzowy |
| cs | Ochoaův syndrom | Urofaciální syndrom · Syndrom zahrnující hydronefrózu a opačný úsměv · Syndrom zahrnující opačný úsměv a neurogenní měchýř · Částečná obrna obličeje s močovými abnormalitami |
| uk | Урофаціальний синдром | Синдром перевернутої посмішки при гідронефрозі · Синдром перевернутої посмішки - нейрогенний сечовий міхур · Синдром обличчя Очоа · Синдром Очоа · Частковий параліч обличчя з порушеннями сечовипускання |
| zh | Ochoa综合征 | 部分面部麻痹伴泌尿系统异常 |
| tr | Ochoa sendromu | Ürofasiyal sendrom · Hidronefroz-ters gülümseme sendromu · Ters gülümseme-nörojenik mesane sendromu · İdrar anormallikleri ile seyreden kısmi fasiyal felç |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236730 | E | validated | |
| OMIM | 615112 | BTNT | validated | |
| ICD-10 | N31.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0000463 | E | validated | |
| MeSH | C536480 | E | validated | |
| UMLS | C0403555 | E | validated | |
| GARD | 104 | E | validated | |
| MedDRA | 10089227 | 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 (1):
- ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HPSE2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18374 | ENSG00000172987 | 613469 | 10q24.2 | heparanase 2 (inactive) | 23967498[PMID] |
| LRIG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:20889 | ENSG00000198799 | 608869 | 1p13.2 | leucine rich repeats and immunoglobulin like domains 2 | 23313374[PMID]_23967498[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000010 | Recurrent urinary tract infections | |
| Frequent (79-30%) | ||
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0000126 | Hydronephrosis | |
| HP:0000796 | Urethral obstruction | |
| HP:0000020 | Urinary incontinence | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0002607 | Bowel incontinence | |
| HP:0000822 | Hypertension | |
| HP:0001959 | Polydipsia | |
| HP:0000083 | Renal insufficiency | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2704
- This record as JSON: /data/d/2704.json