Disease

Congenital Disorders Of Glycosylation

About the Disease
Congenital Disorder of Glycosylation, Type in, also known as congenital disorder of glycosylation, is related to congenital disorder of glycosylation, type im and congenital disorder of glycosylation, type iim, and has symptoms including ataxia, muscle spasticity and myoclonus. An important gene associated with Congenital Disorder of Glycosylation, Type in is RFT1 (RFT1 Homolog), and among its related pathways/superpathways are Metabolism of proteins and Disease. The drugs Acetazolamide and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and heart, and related phenotypes are global developmental delay and seizure

Common Targets
DPM2 | SLC35A2 | MAN2B2 | PKHD1L1 | CRIM1 | WDR41 | TMCC3 | PIGW | ALG2 | ALG12 | GALE | ALG11 | FUT8 | SRD5A3 | GALNT2 | DOLK | Chaperone (nonspecified subtype) | STPG2 | TRAPPC11 | PLXNA4 | HRNR | STT3B | SLC35A1 | MPI | DHDDS | COG4 | STT3A | XYLT2 | CKAP2 | MOGS | DDOST | COG6 | NBAS | COL6A2 | GALT | GLUL | MAN1B1 | DPAGT1 | EDEM3 | DPH7 | SSR4 | COG1 | CSGALNACT1 | ATP6V1A | STX5 | ALDOB | ALG3 | COG2 | ATP6AP1 | DPM3 | ALG1 | GMPPA | TMEM199 | OSTC | ALG6 | PGM1 | SLC5A2 | DPM1 | RFT1 | PIGS | PGM3 | FCSK | SLC39A8 | PMM2 | ALG13

疾病靶点研报
Congenital Disorders Of Glycosylation

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