遗传性掌跖角化病
Hereditary palmoplantar keratoderma
ORPHA:79357疾病组
别名
遗传性掌跖角化过度
相关基因 38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 |
|---|---|---|
| AAGAB | alpha and gamma adaptin binding protein | ORPHA:79501 |
| AQP5 | aquaporin 5 | ORPHA:2337 |
| CCDC91 | coiled-coil domain containing 91 | ORPHA:38 |
| COG6 | component of oligomeric golgi complex 6 | ORPHA:363523 |
| CTSC | cathepsin C | ORPHA:678 |
| DSG1 | desmoglein 1 | ORPHA:369999 |
| DSP | desmoplakin | ORPHA:293165 |
| GJA1 | gap junction protein alpha 1 | ORPHA:1010 |
| GJB2 | gap junction protein beta 2 | ORPHA:2202 |
| GJB3 | gap junction protein beta 3 | ORPHA:317 |
| GJB4 | gap junction protein beta 4 | ORPHA:317 |
| GJB6 | gap junction protein beta 6 | ORPHA:189 |
| GRHL2 | grainyhead like transcription factor 2 | ORPHA:423454 |
| KANK2 | KN motif and ankyrin repeat domains 2 | ORPHA:420686 |
| KDSR | 3-ketodihydrosphingosine reductase | ORPHA:317 |
| KRT1 | keratin 1 | ORPHA:2199 |
| KRT14 | keratin 14 | ORPHA:86920 |
| KRT16 | keratin 16 | ORPHA:448264 |
| KRT17 | keratin 17 | ORPHA:2309 |
| KRT6A | keratin 6A | ORPHA:2309 |
| KRT6B | keratin 6B | ORPHA:2309 |
| KRT6C | keratin 6C | ORPHA:402003 |
| KRT9 | keratin 9 | ORPHA:2199 |
| LORICRIN | loricrin cornified envelope precursor protein | ORPHA:79395 |
| LSS | lanosterol synthase | ORPHA:1366 |
| MBTPS2 | membrane bound transcription factor peptidase, site 2 | ORPHA:659 |
| MT-TS1 | mitochondrially encoded tRNA-Ser (UCN) 1 | ORPHA:2202 |
| NLRP1 | NLR family pyrin domain containing 1 | ORPHA:352662 |
| PERP | p53 apoptosis effector related to PMP22 | ORPHA:659 |
| RHBDF2 | rhomboid 5 homolog 2 | ORPHA:2198 |
| RSPO1 | R-spondin 1 | ORPHA:85112 |
| SERPINB7 | serpin family B member 7 | ORPHA:140966 |
| SLURP1 | secreted LY6/PLAUR domain containing 1 | ORPHA:87503 |
| SMARCAD1 | SNF2 related chromatin remodeling ATPase with DExD box 1 | ORPHA:384 |
| SNAP29 | synaptosome associated protein 29 | ORPHA:66631 |
| TAT | tyrosine aminotransferase | ORPHA:28378 |
| TRPV3 | transient receptor potential cation channel subfamily V member 3 | ORPHA:659 |
| WNT10A | Wnt family member 10A | ORPHA:50944 |
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）