遗传性牙龈纤维瘤病
Hereditary gingival fibromatosis
ORPHA:2024疾病
定义 英文原文（暂无中文）
Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.
别名
常染色体显性遗传牙龈纤维瘤病
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 各年龄段
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SOS1 | SOS Ras/Rac guanine nucleotide exchange factor 1 | Disease-causing germline mutation(s) in |
| REST | RE1 silencing transcription factor | Disease-causing germline mutation(s) in |
| GINGF2 | gingival fibromatosis, hereditary, 2 | Candidate gene tested in |
临床表型 2
极常见 99–80%2
- 牙龈纤维瘤病 HP:0000169
- 牙龈增生 HP:0000212
外部标识与链接
OrphanetOMIM:135300OMIM:605544OMIM:609955MONDO:0016070ICD-10 K06.1ICD-11 DA0B.YClinicalTrials.gov 检索
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）