ORPHA:99771
Bifid uvula
Synonyms: Bifidity of the uvula · Uvular cleft
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bifid uvula | Bifidity of the uvula · Uvular cleft |
| fr | Luette bifide | Bifidité de la luette · Fente de la luette |
| de | Uvula bifida | Gaumenzäpfchen, zweigeteiltes · Uvulaspalte |
| es | Úvula bífida | Hendidura uvular |
| it | Ugola bifida | Bifidità dell'ugola · Schisi uvulare |
| nl | Bifide uvula | Fissuur van de huig · Gespleten huig |
| pt | Úvula bífida | |
| pl | Rozdwojenie języczka | Języczek dwudzielny · Rozszczep języczka |
| cs | Rozštěp uvuly | = en |
| uk | Роздвоєний язичок | Двоякість язичка · Увулярна розщілина |
| zh | 悬雍垂裂 | 悬雍垂二裂 |
| tr | Bifid uvula | Uvüler yarık · Bifid uvula |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q35.7 | E | specific | validated |
| ICD-11 | LA42.2 | E | specific | validated |
| MONDO | 0008637 | E | validated | |
| UMLS | C4551488 | 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:2014Cleft palate
rare developmental anomalies during embryogenesis; rare surgical maxillo-facial diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UBB | Candidate gene tested in | Not yet assessed | HGNC:12463 | ENSG00000170315 | 191339 | 17p11.2 | ubiquitin B | 17468296[PMID] |
| GRHL3 | Major susceptibility factor in | Assessed | HGNC:25839 | ENSG00000158055 | 608317 | 1p36.11 | grainyhead like transcription factor 3 | 27018472[PMID]_27018475[PMID] |
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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.
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HPO phenotypes
4 annotations · validated 2017-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000193 | Bifid uvula | |
| Frequent (79-30%) | ||
| HP:0008376 | Nasal, dysarthic speech | |
| Occasional (29-5%) | ||
| HP:0410030 | Cleft lip | |
| HP:0011819 | Submucous cleft soft palate | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24360809[PMID]_18614778[PMID]_3975126[PMID]_1121242[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99771
- This record as JSON: /data/d/99771.json