外胚层发育不良综合征
Ectodermal dysplasia syndrome
ORPHA:79373疾病组
定义 英文原文（暂无中文）
The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.
别名
外胚层发育不良
基本事实
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 6-9 / 10 000
相关基因 60来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| AARS1 | alanyl-tRNA synthetase 1 | ORPHA:33364 |
| ABCA5 | ATP binding cassette subfamily A member 5 | ORPHA:2026 |
| ACD | ACD shelterin complex subunit and telomerase recruitment factor | ORPHA:1775 |
| ANTXR1 | ANTXR cell adhesion molecule 1 | ORPHA:2067 |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | ORPHA:1340 |
| CARS1 | cysteinyl-tRNA synthetase 1 | ORPHA:33364 |
| CDH1 | cadherin 1 | ORPHA:1997 |
| CDH3 | cadherin 3 | ORPHA:1897 |
| COL11A1 | collagen type XI alpha 1 chain | ORPHA:560 |
| CSTB | cystatin B | ORPHA:248 |
| CTC1 | CST telomere replication complex component 1 | ORPHA:1775 |
| CTNNB1 | catenin beta 1 | ORPHA:952 |
| CTNND1 | catenin delta 1 | ORPHA:1997 |
| CTSC | cathepsin C | ORPHA:678 |
| CYP26C1 | cytochrome P450 family 26 subfamily C member 1 | ORPHA:398189 |
| DBR1 | debranching RNA lariats 1 | ORPHA:33364 |
| DKC1 | dyskerin pseudouridine synthase 1 | ORPHA:1775 |
| DLX3 | distal-less homeobox 3 | ORPHA:3352 |
| DSP | desmoplakin | ORPHA:65282 |
| DYNC2LI1 | dynein cytoplasmic 2 light intermediate chain 1 | ORPHA:289 |
| EDA | ectodysplasin A | ORPHA:181 |
| EDA2R | ectodysplasin A2 receptor | ORPHA:181 |
| EDAR | ectodysplasin A receptor | ORPHA:1810 |
| EDARADD | EDAR associated via death domain | ORPHA:1810 |
| ERCC2 | ERCC excision repair 2, TFIIH core complex helicase subunit | ORPHA:33364 |
| ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit | ORPHA:33364 |
| EVC | EvC ciliary complex subunit 1 | ORPHA:952 |
| EVC2 | EvC ciliary complex subunit 2 | ORPHA:952 |
| GJA1 | gap junction protein alpha 1 | ORPHA:1010 |
| GJB2 | gap junction protein beta 2 | ORPHA:477 |
| GJB6 | gap junction protein beta 6 | ORPHA:189 |
| GLI1 | GLI family zinc finger 1 | ORPHA:289 |
| GRHL2 | grainyhead like transcription factor 2 | ORPHA:423454 |
| GTF2E2 | general transcription factor IIE subunit 2 | ORPHA:33364 |
| GTF2H5 | general transcription factor IIH subunit 5 | ORPHA:33364 |
| HOXC13 | homeobox C13 | ORPHA:69084 |
| IFT122 | intraflagellar transport 122 | ORPHA:1515 |
| IFT43 | intraflagellar transport 43 | ORPHA:1515 |
| IFT52 | intraflagellar transport 52 | ORPHA:1515 |
| IKBKG | inhibitor of nuclear factor kappa B kinase regulatory subunit gamma | ORPHA:69088 |
| KCTD1 | potassium channel tetramerization domain containing 1 | ORPHA:2036 |
| KDF1 | keratinocyte differentiation factor 1 | ORPHA:1810 |
| KRAS | KRAS proto-oncogene, GTPase | ORPHA:3339 |
| KRT14 | keratin 14 | ORPHA:86920 |
| KRT74 | keratin 74 | ORPHA:69084 |
| KRT85 | keratin 85 | ORPHA:69084 |
| LRP6 | LDL receptor related protein 6 | ORPHA:1810 |
| LSS | lanosterol synthase | ORPHA:1366 |
| MAP2K1 | mitogen-activated protein kinase kinase 1 | ORPHA:1340 |
| MAP2K2 | mitogen-activated protein kinase kinase 2 | ORPHA:1340 |
| MPLKIP | M-phase specific PLK1 interacting protein | ORPHA:33364 |
| MSX1 | msh homeobox 1 | ORPHA:2228 |
| NECTIN1 | nectin cell adhesion molecule 1 | ORPHA:3253 |
| NFKBIA | NFKB inhibitor alpha | ORPHA:98813 |
| NHP2 | NHP2 ribonucleoprotein | ORPHA:1775 |
| NOP10 | NOP10 ribonucleoprotein | ORPHA:1775 |
| NPM1 | nucleophosmin 1 | ORPHA:1775 |
| PARN | poly(A)-specific ribonuclease | ORPHA:1775 |
| PIGL | phosphatidylinositol glycan anchor biosynthesis class L | ORPHA:3474 |
| PNPLA6 | patatin like domain 6, lysophospholipase | ORPHA:3363 |
外部标识与链接
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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）