嘌呤或嘧啶代谢异常
Disorder of purine or pyrimidine metabolism
ORPHA:79224疾病组
相关基因 50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 |
|---|---|---|
| ABCC8 | ATP binding cassette subfamily C member 8 | ORPHA:552 |
| ADA | adenosine deaminase | ORPHA:277 |
| ADSL | adenylosuccinate lyase | ORPHA:46 |
| ALDOA | aldolase, fructose-bisphosphate A | ORPHA:57 |
| APPL1 | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | ORPHA:552 |
| APRT | adenine phosphoribosyltransferase | ORPHA:976 |
| ATIC | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | ORPHA:250977 |
| BLK | BLK proto-oncogene, Src family tyrosine kinase | ORPHA:552 |
| CAD | carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | ORPHA:448010 |
| CEL | carboxyl ester lipase | ORPHA:552 |
| DGUOK | deoxyguanosine kinase | ORPHA:279934 |
| DPYD | dihydropyrimidine dehydrogenase | ORPHA:1675 |
| DPYS | dihydropyrimidinase | ORPHA:38874 |
| ENO3 | enolase 3 | ORPHA:99849 |
| GCK | glucokinase | ORPHA:79299 |
| GPI | glucose-6-phosphate isomerase | ORPHA:712 |
| HK1 | hexokinase 1 | ORPHA:90031 |
| HNF1A | HNF1 homeobox A | ORPHA:552 |
| HNF1B | HNF1 homeobox B | ORPHA:93111 |
| HNF4A | hepatocyte nuclear factor 4 alpha | ORPHA:552 |
| HPRT1 | hypoxanthine phosphoribosyltransferase 1 | ORPHA:510 |
| INS | insulin | ORPHA:552 |
| ITPA | inosine triphosphatase | ORPHA:457375 |
| KCNJ11 | potassium inwardly rectifying channel subfamily J member 11 | ORPHA:552 |
| KLF11 | KLF transcription factor 11 | ORPHA:552 |
| LDHA | lactate dehydrogenase A | ORPHA:284426 |
| LDHB | lactate dehydrogenase B | ORPHA:284435 |
| LIG3 | DNA ligase 3 | ORPHA:298 |
| MOCOS | molybdenum cofactor sulfurase | ORPHA:93602 |
| NARS2 | asparaginyl-tRNA synthetase 2, mitochondrial | ORPHA:79134 |
| NEUROD1 | neuronal differentiation 1 | ORPHA:552 |
| NT5C3A | 5'-nucleotidase, cytosolic IIIA | ORPHA:35120 |
| PAICS | phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | ORPHA:633099 |
| PAX4 | paired box 4 | ORPHA:552 |
| PDX1 | pancreatic and duodenal homeobox 1 | ORPHA:552 |
| PFKM | phosphofructokinase, muscle | ORPHA:371 |
| PGAM2 | phosphoglycerate mutase 2 | ORPHA:97234 |
| PGK1 | phosphoglycerate kinase 1 | ORPHA:713 |
| PKLR | pyruvate kinase L/R | ORPHA:766 |
| PNP | purine nucleoside phosphorylase | ORPHA:760 |
| POLG | DNA polymerase gamma, catalytic subunit | ORPHA:298 |
| PRPS1 | phosphoribosyl pyrophosphate synthetase 1 | ORPHA:99014 |
| RRM2B | ribonucleotide reductase regulatory TP53 inducible subunit M2B | ORPHA:298 |
| STAT3 | signal transducer and activator of transcription 3 | ORPHA:99885 |
| TPI1 | triosephosphate isomerase 1 | ORPHA:868 |
| TYMP | thymidine phosphorylase | ORPHA:298 |
| UMOD | uromodulin | ORPHA:88950 |
| UMPS | uridine monophosphate synthetase | ORPHA:30 |
| UPB1 | beta-ureidopropionase 1 | ORPHA:65287 |
| XDH | xanthine dehydrogenase | ORPHA:93601 |
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）