少牙畸形
Oligodontia
ORPHA:99798疾病
定义
少齿是一种罕见的人类牙齿发育异常，其特征是缺少6颗或更多的牙齿
别名
选择性牙发育不全
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、X 连锁隐性
- 发病年龄
- 儿童期
相关基因 12
| 基因 | 名称 | 关联类型 |
|---|---|---|
| EDA | ectodysplasin A | Disease-causing germline mutation(s) in |
| EDARADD | EDAR associated via death domain | Disease-causing germline mutation(s) in |
| FGFR1 | fibroblast growth factor receptor 1 | Disease-causing germline mutation(s) in |
| IRF6 | interferon regulatory factor 6 | Disease-causing germline mutation(s) in |
| WNT10A | Wnt family member 10A | Disease-causing germline mutation(s) in |
| MSX1 | msh homeobox 1 | Disease-causing germline mutation(s) in |
| PAX9 | paired box 9 | Disease-causing germline mutation(s) in |
| SUMO1 | small ubiquitin like modifier 1 | Candidate gene tested in |
| TGFA | transforming growth factor alpha | Disease-causing germline mutation(s) in |
| LRP6 | LDL receptor related protein 6 | Disease-causing germline mutation(s) (loss of function) in |
| WNT10B | Wnt family member 10B | Disease-causing germline mutation(s) in |
| GREM2 | gremlin 2, DAN family BMP antagonist | Disease-causing germline mutation(s) in |
临床表型 23
必现 100%1
- 少牙畸形 HP:0000677
极常见 99–80%1
- 咀嚼功能受损 HP:0005216
常见 79–30%10
- 中切牙发育不全 HP:0006289
- 第一恒磨牙发育不全 HP:0011056
- 上颌侧切牙发育不全 HP:0000690
- 前磨牙发育不全 HP:0011051
- 恒牙萌出延迟 HP:0000696
- 牙齿萌出延迟 HP:0000684
- 牙齿错位咬合 HP:0000689
- 小牙畸形 HP:0000691
- 短牙根 HP:0006336
- 牙间隙增宽 HP:0000687
偶见 29–5%11
- 牙齿形态异常 HP:0006482
- 犬齿异常 HP:0011078
- 乳牙形态异常 HP:0006344
- 下颌前臼齿（前磨牙）发育不全 HP:0011053
- 唇外翻 HP:0012472
- 牙釉质发育不全 HP:0006297
- 牙齿发育不全 HP:0000685
- 口面裂 HP:0000202
- 钉形上颌侧切牙 HP:0006342
- 短脸 HP:0011219
- 牙髓腔增大 HP:0000679
外部标识与链接
OrphanetOMIM:106600OMIM:150400OMIM:313500MONDO:0005486MONDO:5486ICD-10 K00.0ICD-11 LA30.2ClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）