Oculootodental syndrome
Synonyms: OOD
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy
- Status
- active
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculootodental syndrome | OOD |
| fr | Syndrome oculo-oto-dentaire | Syndrome OOD |
| de | Okulo-otodentales Syndrom (OOD) | |
| es | Síndrome óculo-oto-dental | = en |
| it | Sindrome oculo-oto-dentale | = en |
| nl | Oculo-otodentaal syndroom | = en |
| pt | Síndrome oculo-oto-dentária | = en |
| pl | Zespół oczno-zębowy | = en |
| cs | Okulootodentální syndrom | = en |
| uk | Оковухозубний синдром | = en |
| zh | 眼-耳-牙综合征 | = en |
| tr | Okülootodental sendrom | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166750 | NTBT | validated | |
| ICD-10 | K07.8 | NTBT | attributed | validated |
| MONDO | 0020494 | E | validated | |
| UMLS | C2750325 | 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 (3):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:262092Partial deletion of the long arm of chromosome 11 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FADD | Role in the phenotype of | Assessed | HGNC:3573 | ENSG00000168040 | 602457 | 11q13.3 | Fas associated via death domain | 17656375[PMID] |
| FGF3 | Role in the phenotype of | Assessed | HGNC:3681 | ENSG00000186895 | 164950 | 11q13.3 | fibroblast growth factor 3 | 17656375[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 12147582[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12147582[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99806
- This record as JSON: /data/d/99806.json