ORPHA:99798
Oligodontia
Synonyms: Selective tooth agenesis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Childhood
- Status
- active
Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oligodontia | Selective tooth agenesis |
| fr | Oligodontie | Agénésie dentaire sélective |
| de | Oligodontie | Zahn-Agenesie, selektive |
| es | Oligodoncia | Agenesia dental selectiva |
| it | Oligodontia | Agenesia selettiva dei denti |
| nl | Oligodontie | Selectieve tandagenesie |
| pt | Oligodontia | |
| pl | Oligodoncja | Agenezja pojedyńczych zębów |
| cs | Oligodoncie | Selektivní ageneze zubů |
| uk | Олігодонтія | Селективна агенезія зубів |
| zh | 少牙畸形 | 选择性牙发育不全 |
| tr | Oligodonti | Seçici diş agenezisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106600 | BTNT | validated | |
| OMIM | 150400 | BTNT | validated | |
| OMIM | 313500 | BTNT | validated | |
| OMIM | 604625 | BTNT | validated | |
| OMIM | 610926 | BTNT | validated | |
| OMIM | 616724 | BTNT | validated | |
| OMIM | 617073 | BTNT | validated | |
| OMIM | 617275 | BTNT | validated | |
| OMIM | 620173 | BTNT | validated | |
| ICD-10 | K00.0 | NTBT | inclusion | validated |
| ICD-11 | LA30.2 | E | specific | validated |
| MONDO | 0005486 | E | validated | |
| MONDO | 5486 | E | validated | |
| UMLS | C4082304 | E | validated | |
| MedDRA | 10088239 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:420755Rare genetic odontal or periodontal disorder
rare genetic diseases - ORPHA:164001Rare odontal or periodontal disorder
rare odontological diseases
No children.
4
Genes
12 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SUMO1 | Candidate gene tested in | Not yet assessed | HGNC:12502 | ENSG00000116030 | 601912 | 2q33.1 | small ubiquitin like modifier 1 | |
| LRP6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6698 | ENSG00000070018 | 603507 | 12p13.2 | LDL receptor related protein 6 | 26387593[PMID] |
| EDA | Disease-causing germline mutation(s) in | Assessed | HGNC:3157 | ENSG00000158813 | 300451 | Xq13.1 | ectodysplasin A | |
| EDARADD | Disease-causing germline mutation(s) in | Assessed | HGNC:14341 | ENSG00000186197 | 606603 | 1q42.3-q43 | EDAR associated via death domain | |
| FGFR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | |
| GREM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17655 | ENSG00000180875 | 608832 | 1q43 | gremlin 2, DAN family BMP antagonist | 26416033[PMID] |
| IRF6 | Disease-causing germline mutation(s) in | Assessed | HGNC:6121 | ENSG00000117595 | 607199 | 1q32.2 | interferon regulatory factor 6 | |
| MSX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7391 | ENSG00000163132 | 142983 | 4p16.2 | msh homeobox 1 | |
| PAX9 | Disease-causing germline mutation(s) in | Assessed | HGNC:8623 | ENSG00000198807 | 167416 | 14q13.3 | paired box 9 | |
| TGFA | Disease-causing germline mutation(s) in | Assessed | HGNC:11765 | ENSG00000163235 | 190170 | 2p13.3 | transforming growth factor alpha | |
| WNT10A | Disease-causing germline mutation(s) in | Assessed | HGNC:13829 | ENSG00000135925 | 606268 | 2q35 | Wnt family member 10A | |
| WNT10B | Disease-causing germline mutation(s) in | Assessed | HGNC:12775 | ENSG00000169884 | 601906 | 12q13.12 | Wnt family member 10B | 27321946[PMID] |
5
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.
6
HPO phenotypes
23 annotations · validated 2021-04-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000677 | Oligodontia | |
| Very frequent (99-80%) | ||
| HP:0005216 | Impaired mastication | |
| Frequent (79-30%) | ||
| HP:0006289 | Agenesis of central incisor | |
| HP:0011056 | Agenesis of first permanent molar tooth | |
| HP:0000690 | Agenesis of maxillary lateral incisor | |
| HP:0011051 | Agenesis of premolar | |
| HP:0000696 | Delayed eruption of permanent teeth | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000689 | Dental malocclusion | |
| HP:0000691 | Microdontia | |
| HP:0006336 | Short dental roots | |
| HP:0000687 | Widely spaced teeth | |
| Occasional (29-5%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0011078 | Abnormality of canine | |
| HP:0006344 | Abnormality of primary molar morphology | |
| HP:0011053 | Agenesis of mandibular premolar | |
| HP:0012472 | Eclabion | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000685 | Hypoplasia of teeth | |
| HP:0000202 | Orofacial cleft | |
| HP:0006342 | Peg-shaped maxillary lateral incisors | |
| HP:0011219 | Short face | |
| HP:0000679 | Taurodontia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30172942[PMID]_31375234[PMID]_29271123[PMID]_28401166[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99798
- This record as JSON: /data/d/99798.json