先天性非大疱性鱼鳞病样红皮病
Congenital ichthyosiform erythroderma
ORPHA:79394疾病
定义 英文原文（暂无中文）
A rare autosomal recessive congenital ichthyosis (ARCI) characterized by generalised scaling accompanied by a more or less severe erythroderma, without blister formation.
别名
非大疱性先天性鱼鳞病样红皮病
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-9 / 1 000 000（Spain）
相关基因 9
| 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 |
| NIPAL4 | NIPA like domain containing 4 | Disease-causing germline mutation(s) in |
| PNPLA1 | patatin like domain 1, omega-hydroxyceramide transacylase | Disease-causing germline mutation(s) in |
| CERS3 | ceramide synthase 3 | Disease-causing germline mutation(s) in |
| SULT2B1 | sulfotransferase family 2B member 1 | Disease-causing germline mutation(s) in |
| SDR9C7 | short chain dehydrogenase/reductase family 9C member 7 | Disease-causing germline mutation(s) in |
临床表型 13
极常见 99–80%5
- 睑外翻 HP:0000656
- 剥脱性皮炎 HP:0001019
- 少汗症 HP:0000966
- 鱼鳞病 HP:0008064
- 瘙痒 HP:0000989
常见 79–30%7
- 指（趾）甲形态异常 HP:0001597
- 脱发 HP:0001596
- 角膜糜烂 HP:0200020
- 发育迟滞 HP:0001508
- 听力受损 HP:0000365
- 角膜炎 HP:0000491
- 掌跖角化症 HP:0000982
偶见 29–5%1
- 身材矮小 HP:0004322
外部标识与链接
OrphanetOMIM:242100OMIM:606545OMIM:612281MONDO:0019306ICD-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）