青少年成人起病型糖尿病
MODY
ORPHA:552疾病
定义 英文原文（暂无中文）
MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
别名
年轻的成年发病型糖尿病
基本事实
- 遗传方式
- 常染色体显性、不适用
- 发病年龄
- 青少年期、成年期、儿童期
- 患病率
- 1-5 / 10 000（Europe）
相关基因 13
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ABCC8 | ATP binding cassette subfamily C member 8 | Disease-causing germline mutation(s) in |
| CEL | carboxyl ester lipase | Disease-causing germline mutation(s) in |
| GCK | glucokinase | Disease-causing germline mutation(s) in |
| HNF4A | hepatocyte nuclear factor 4 alpha | Disease-causing germline mutation(s) in |
| KCNJ11 | potassium inwardly rectifying channel subfamily J member 11 | Disease-causing germline mutation(s) in |
| KLF11 | KLF transcription factor 11 | Disease-causing germline mutation(s) in |
| NEUROD1 | neuronal differentiation 1 | Disease-causing germline mutation(s) in |
| PDX1 | pancreatic and duodenal homeobox 1 | Disease-causing germline mutation(s) in |
| HNF1A | HNF1 homeobox A | Disease-causing germline mutation(s) in |
| INS | insulin | Disease-causing germline mutation(s) in |
| PAX4 | paired box 4 | Disease-causing germline mutation(s) in |
| BLK | BLK proto-oncogene, Src family tyrosine kinase | Disease-causing germline mutation(s) in |
| APPL1 | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 27
常见 79–30%8
- 循环C肽浓度异常 HP:0030794
- 循环胰岛素水平异常 HP:0040214
- 口服葡萄糖耐量异常 HP:0004924
- 糖化血红蛋白水平增高 HP:0040217
- 糖耐量异常 HP:0001952
- 糖尿 HP:0003076
- 高血糖 HP:0003074
- 低胰岛素血症 HP:0040216
偶见 29–5%9
- 高胰岛素性低血糖 HP:0000825
- 胰岛素抵抗性糖尿病 HP:0000831
- 胎儿宫内发育迟缓 HP:0001511
- 大于胎龄儿 HP:0001520
- 新生儿低血糖 HP:0001998
- 肾病 HP:0000112
- 超重 HP:0025502
- 视网膜病变 HP:0000488
- 新生儿短暂性糖尿病 HP:0008255
罕见 <4–1%7
- 泌尿生殖系统异常 HP:0000119
- 肾脏异常 HP:0000077
- 胰腺外分泌功能不全 HP:0001738
- 肝细胞腺瘤 HP:0012028
- 肥胖 HP:0001513
- 胰腺发育不良 HP:0002594
- 肾囊肿 HP:0000107
排除 0%3
- 黑棘皮病 HP:0000956
- 自身免疫性抗体阳性 HP:0030057
- 糖尿病酮症酸中毒 HP:0001953
外部标识与链接
OrphanetOMIM:125850OMIM:125851OMIM:600496MONDO:0018911ICD-10 E13.9ICD-11 5A13.6ClinicalTrials.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）