罕见病知识库 RareSeen

维生素和非蛋白质辅因子吸收-转运障碍

Disorder of vitamin and non-protein cofactor absorption and transport

ORPHA:309827疾病组

相关基因 27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
ABCD4ATP binding cassette subfamily D member 4ORPHA:369955
AMNamnion associated transmembrane proteinORPHA:35858
BCO1beta-carotene oxygenase 1ORPHA:199285
CBLIFcobalamin binding intrinsic factorORPHA:332
CD320CD320 moleculeORPHA:280183
CUBNcubilinORPHA:35858
DHFRdihydrofolate reductaseORPHA:319651
FOLR1folate receptor 1ORPHA:217382
FTCDformimidoyltransferase cyclodeaminaseORPHA:51208
HCFC1host cell factor C1ORPHA:369962
LMBRD1LMBR1 domain containing 1ORPHA:79284
MMAAmetabolism of cobalamin associated AORPHA:79310
MMABmetabolism of cobalamin associated BORPHA:79311
MMACHCmetabolism of cobalamin associated CORPHA:79282
MMADHCmetabolism of cobalamin associated DORPHA:79283
MTHFRmethylenetetrahydrofolate reductaseORPHA:395
MTHFSmethenyltetrahydrofolate synthetaseORPHA:597874
MTR5-methyltetrahydrofolate-homocysteine methyltransferaseORPHA:2170
MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductaseORPHA:2169
SLC19A1solute carrier family 19 member 1ORPHA:661412
SLC19A2solute carrier family 19 member 2ORPHA:49827
SLC19A3solute carrier family 19 member 3ORPHA:65284
SLC25A19solute carrier family 25 member 19ORPHA:99742
SLC46A1solute carrier family 46 member 1ORPHA:90045
TCN1transcobalamin 1ORPHA:2967
TCN2transcobalamin 2ORPHA:859
TPK1thiamin pyrophosphokinase 1ORPHA:293955

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)