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Results 1 - 10 of 18 for Congenital disorder of glycosylation
  1. ATP6V0A2 gene 
    ... underlie ARCL2A, the condition is classified as a congenital disorder of glycosylation. More About This Health Condition A2V-ATPase ATP6a2 ...
    https://medlineplus.gov/genetics/gene/atp6v0a2 - Genetics
  2. B3GLCT gene 
    ... Hofsteenge J. Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type ...
    https://medlineplus.gov/genetics/gene/b3glct - Genetics
  3. ALG6 gene 
    ... ALG6 gene have been found to cause ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic). This condition typically leads to developmental ...
    https://medlineplus.gov/genetics/gene/alg6 - Genetics
  4. ALG1 gene 
    ... ALG1 gene have been found to cause ALG1-congenital disorder of glycosylation (ALG1-CDG). This condition typically leads to intellectual ... Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel ...
    https://medlineplus.gov/genetics/gene/alg1 - Genetics
  5. ALG12 gene 
    ... ALG12 gene have been found to cause ALG12-congenital disorder of glycosylation (ALG12-CDG). This condition typically leads to delayed ... Durand G, Oriol R, Codogno P, Moore SE. Congenital disorders of glycosylation type Ig is defined by a deficiency in ...
    https://medlineplus.gov/genetics/gene/alg12 - Genetics
  6. SRD5A3 gene 
    ... SRD5A3 gene have been found to cause SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG). This condition primarily causes neurological and ... Jaeken J, Lefeber DJ, Matthijs G. SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card. Eur J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/srd5a3 - Genetics
  7. PMM2 gene 
    ... PMM2 gene have been found to cause PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia). This is a severe condition that ...
    https://medlineplus.gov/genetics/gene/pmm2 - Genetics
  8. PGM3 gene 
    ... PGM3 gene have been found to cause PGM3-congenital disorder of glycosylation (PGM3-CDG). This condition primarily affects the immune ... G. Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation. Eur J Hum Genet. 2019 Nov;27(11): ...
    https://medlineplus.gov/genetics/gene/pgm3 - Genetics
  9. DOLK gene 
    ... DOLK gene have been found to cause DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im). This condition often causes the heart ...
    https://medlineplus.gov/genetics/gene/dolk - Genetics
  10. SLC35A2 gene 
    ... SLC35A2 gene have been found to cause SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG). SLC35A2-CDG is an inherited condition ... of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/gene/slc35a2 - Genetics
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