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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Ik
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Accession:DOID:0080563 term browser browse the term
Definition:Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. Type II CDG comprises all defects of further trimming and elongation of N-linked oligosaccharides in the ER and Golgi. Congenital disorder of glycosylation type Ik is caused by homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase (ALG1) on chromosome 16p13. (OMIM)
Synonyms:exact_synonym: CDG Ik;   CDG1K;   CDGIk;   congenital disorder of glycosylation 1k;   congenital disorder of glycosylation, type 1K;   congenital disorder of glycosylation, type IK
 primary_id: MESH:C535749
 alt_id: OMIM:608540;   RDO:0001038
 xref: GARD:9838;   ORDO:79327
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congenital disorder of glycosylation Ik term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase JBrowse link 10 10,539,930 10,550,178 RGD:7240710
RGD:8554872
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase JBrowse link 10 10,530,302 10,540,428 RGD:8554872

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Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        inherited metabolic disorder 1877
          carbohydrate metabolic disorder 326
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation Ik 2
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          inherited metabolic disorder 1877
            carbohydrate metabolic disorder 326
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Ik 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.