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Term:congenital disorder of glycosylation Iu
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Accession:DOID:0080571 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: CDG IU;   CDG1U;   CDGIU;   Congenital Disorder of Glycosylation Type 1U;   Congenital Disorder of Glycosylation, Type Iu;   congenital disorder of glycosylation 1u
 primary_id: OMIM:615042
 alt_id: RDO:9000250
 xref: GARD:12416;   ORDO:329178
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congenital disorder of glycosylation Iu term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak1 adenylate kinase 1 JBrowse link 3 11,652,143 11,659,135 RGD:8554872
G Cdk9 cyclin-dependent kinase 9 JBrowse link 3 11,742,269 11,747,117 RGD:8554872
G Cfap157 cilia and flagella associated protein 157 JBrowse link 3 11,813,575 11,820,549 RGD:8554872
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:8554872
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory JBrowse link 3 11,587,941 11,590,528 RGD:7240710
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:8554872
G Fam102a family with sequence similarity 102, member A JBrowse link 3 11,554,084 11,586,315 RGD:8554872
G Fpgs folylpolyglutamate synthase JBrowse link 3 11,717,667 11,729,694 RGD:8554872
G Lcn2 lipocalin 2 JBrowse link 3 11,414,189 11,417,534 RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:8554872
G Naif1 nuclear apoptosis inducing factor 1 JBrowse link 3 11,476,330 11,482,629 RGD:8554872
G Niban2 niban apoptosis regulator 2 JBrowse link 3 11,921,715 11,971,327 RGD:8554872
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 JBrowse link 3 11,592,156 11,597,513 RGD:8554872
G Ptges2 prostaglandin E synthase 2 JBrowse link 3 11,424,195 11,431,379 RGD:8554872
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog JBrowse link 3 11,811,303 11,817,007 RGD:8554872
G RGD1561113 similar to Hypothetical UPF0184 protein C9orf16 homolog JBrowse link 3 11,408,076 11,410,907 RGD:8554872
G Sh2d3c SH2 domain containing 3C JBrowse link 3 11,756,427 11,793,547 RGD:8554872
G Slc25a25 solute carrier family 25 member 25 JBrowse link 3 11,442,396 11,476,186 RGD:8554872
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 JBrowse link 3 11,607,103 11,619,595 RGD:8554872
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 JBrowse link 3 11,620,050 11,641,460 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Tor2a torsin family 2, member A JBrowse link 3 11,794,731 11,800,261 RGD:8554872
G Ttc16 tetratricopeptide repeat domain 16 JBrowse link 3 11,799,788 11,811,600 RGD:8554872

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  disease 15503
    Nutritional and Metabolic Diseases 4395
      disease of metabolism 4395
        inherited metabolic disorder 1899
          carbohydrate metabolic disorder 327
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation Iu 23
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          inherited metabolic disorder 1899
            carbohydrate metabolic disorder 327
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Iu 23
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.