Oligodontia
ORPHA:99798Morphological anomalyAutosomal dominant, Autosomal recessive, X-linked recessiveChildhood
Ассоциированные гены12
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SUMO1 | small ubiquitin like modifier 1 | Candidate gene tested in | gene with protein product | 601912 |
| EDA | ectodysplasin A | Disease-causing germline mutation(s) in | gene with protein product | 300451 |
| EDARADD | EDAR associated via death domain | Disease-causing germline mutation(s) in | gene with protein product | 606603 |
| FGFR1 | fibroblast growth factor receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 136350 |
| IRF6 | interferon regulatory factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 607199 |
| WNT10A | Wnt family member 10A | Disease-causing germline mutation(s) in | gene with protein product | 606268 |
| MSX1 | msh homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 142983 |
| PAX9 | paired box 9 | Disease-causing germline mutation(s) in | gene with protein product | 167416 |
| TGFA | transforming growth factor alpha | Disease-causing germline mutation(s) in | gene with protein product | 190170 |
| LRP6 | LDL receptor related protein 6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603507 |
| GREM2 | gremlin 2, DAN family BMP antagonist | Disease-causing germline mutation(s) in | gene with protein product | 608832 |
| WNT10B | Wnt family member 10B | Disease-causing germline mutation(s) in | gene with protein product | 601906 |
Фенотипы (HPO)23
Облигатный (100%)1
HP:0000677Oligodontia
Очень частый (80–99%)1
HP:0005216Impaired mastication
Частый (30–79%)10
HP:0000684Delayed eruption of teeth
HP:0000687Widely spaced teeth
HP:0000689Dental malocclusion
HP:0000690Agenesis of maxillary lateral incisor
HP:0000691Microdontia
HP:0000696Delayed eruption of permanent teeth
HP:0006289Agenesis of central incisor
HP:0006336Short dental roots
HP:0011051Agenesis of premolar
HP:0011056Agenesis of first permanent molar tooth
Периодический (5–29%)11
HP:0000202Orofacial cleft
HP:0000679Taurodontia
HP:0000685Hypoplasia of teeth
HP:0006297Enamel hypoplasia
HP:0006342Peg-shaped maxillary lateral incisors
HP:0006344Abnormality of primary molar morphology
HP:0006482Abnormal dental morphology
HP:0011053Agenesis of mandibular premolar
HP:0011078Abnormality of canine
HP:0011219Short face
HP:0012472Eclabion
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)