板层状鱼鳞病
Lamellar ichthyosis
ORPHA:313疾病
定义 英文原文（暂无中文）
A rare autosomal recessive congenital ichthyosis characterized by the presence of large scales all over the body without significant erythroderma.
别名
先天性板层状鳞癣
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- 1-9 / 1 000 000（Europe）
相关基因 10
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ABCA12 | ATP binding cassette subfamily A member 12 | Disease-causing germline mutation(s) in |
| ALOX12B | arachidonate 12-lipoxygenase, 12R type | Disease-causing germline mutation(s) in |
| ALOXE3 | arachidonate epidermal lipoxygenase 3 | Disease-causing germline mutation(s) in |
| TGM1 | transglutaminase 1 | Disease-causing germline mutation(s) in |
| CYP4F22 | cytochrome P450 family 4 subfamily F member 22 | Disease-causing germline mutation(s) in |
| NIPAL4 | NIPA like domain containing 4 | Disease-causing germline mutation(s) in |
| LIPN | lipase family member N | Disease-causing germline mutation(s) in |
| SULT2B1 | sulfotransferase family 2B member 1 | Disease-causing germline mutation(s) (loss of function) in |
| SDR9C7 | short chain dehydrogenase/reductase family 9C member 7 | Disease-causing germline mutation(s) in |
| ASPRV1 | aspartic peptidase retroviral like 1 | Disease-causing germline mutation(s) in |
临床表型 42
极常见 99–80%14
- 与健康相关的生活质量下降 HP:0033665
- 干性皮肤 HP:0000958
- Eyebrow scaling skin HP:0025813 · 暂无中文
- Generalized scaling HP:0025809 · 暂无中文
- 不耐热 HP:0002046
- 角化过度 HP:0000962
- 少汗症 HP:0000966
- 鱼鳞病 HP:0008064
- 皮肤弹性缺乏 HP:0100679
- 甲营养不良 HP:0008404
- 掌跖角化症 HP:0000982
- 瘙痒 HP:0000989
- 皮肤裂痕 HP:0031057
- 硬皮 HP:0030053
常见 79–30%10
- 耳轮形态异常 HP:0011039
- 脱发 HP:0001596
- 眉毛发育不全 HP:0100840
- 瘢痕性睑外翻 HP:0025608
- 唇外翻 HP:0012472
- 睑外翻 HP:0000656
- 睑裂闭合不全 HP:0030001
- 肢体关节挛缩 HP:0003121
- 头皮瘢痕性脱发 HP:0004552
- 毛发稀疏 HP:0008070
偶见 29–5%12
- 羊膜带狭窄环 HP:0009775
- 眼睑炎 HP:0000498
- 慢性刺激性结膜炎 HP:0007717
- 角膜溃疡 HP:0012804
- 脱水 HP:0001944
- 剥脱性皮炎 HP:0001019
- 睑外翻 HP:0012905
- 角膜炎 HP:0000491
- 睫毛消退 HP:0011457
- 疼痛 HP:0012531
- 泪小点膜性闭塞 HP:0025572
- 反复感染 HP:0002719
罕见 <4–1%6
- 白内障 HP:0000518
- 传导性听力受损 HP:0000405
- 角膜穿孔 HP:0100583
- 眼睑内翻 HP:0000621
- 圆锥角膜 HP:0000563
- 脓毒症 HP:0100806
外部标识与链接
OrphanetOMIM:146750OMIM:242300OMIM:601277MONDO:0017778GARD:10803ICD-10 Q80.2ICD-11 EC20.02ClinicalTrials.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）