罕见病知识库 RareSeen

过度生长综合征

Overgrowth syndrome

ORPHA:93460疾病组

相关基因 28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
ABCC8ATP binding cassette subfamily C member 8ORPHA:276575
AKT1AKT serine/threonine kinase 1ORPHA:744
AKT2AKT serine/threonine kinase 2ORPHA:293964
AKT3AKT serine/threonine kinase 3ORPHA:83473
CCND2cyclin D2ORPHA:83473
CDKN1Ccyclin dependent kinase inhibitor 1CORPHA:231120
DICER1dicer 1, ribonuclease IIIORPHA:404476
DIS3L2DIS3 like 3'-5' exoribonuclease 2ORPHA:2849
EZH2enhancer of zeste 2 polycomb repressive complex 2 subunitORPHA:3447
GCKglucokinaseORPHA:79299
GLUD1glutamate dehydrogenase 1ORPHA:35878
GPC3glypican 3ORPHA:373
H19H19 imprinted maternally expressed transcriptORPHA:2128
HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1ORPHA:457359
HNF1AHNF1 homeobox AORPHA:324575
HNF4Ahepatocyte nuclear factor 4 alphaORPHA:263455
IDH1isocitrate dehydrogenase (NADP(+)) 1ORPHA:163634
IDH2isocitrate dehydrogenase (NADP(+)) 2ORPHA:163634
IGF2insulin like growth factor 2ORPHA:2128
KCNJ11potassium inwardly rectifying channel subfamily J member 11ORPHA:276580
KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1ORPHA:2128
NFIXnuclear factor I XORPHA:561
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alphaORPHA:168984
PIK3R2phosphoinositide-3-kinase regulatory subunit 2ORPHA:83473
PTENphosphatase and tensin homologORPHA:109
SLC16A1solute carrier family 16 member 1ORPHA:165991
SUZ12SUZ12 polycomb repressive complex 2 subunitORPHA:3447
UCP2uncoupling protein 2ORPHA:276556

外部标识与链接

发现这一页有错误?告诉我 · 邮件主题会自动带上本页的 ORPHA 编号

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)