Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00621 (Tree)
Name ALG11-CDG
Aliases CDG-Ip
Congenital Disorder of Glycosylation, Type Ip
Disease name:　Preferred Term CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
Disease name:　Preferred Term ABBR CDG1P
Disease name:　Synonyms (from OMIM and MeSH) Congenital disorder of glycosylation type 1P
UMLS CUI C3150913
OMIM DATA:　Gene ALG11
OMIM DATA:　Gene Number 613666
OMIM DATA:　Phenotype Number 613661
Symptoms, signs and abnormal clinical and laboratory findings
  • Body Temperature Changes
  • Brain Diseases
  • Craniofacial Abnormalities
  • Developmental Disabilities
  • Feeding and Eating Disorders of Childhood
  • Gastrointestinal Diseases
  • Hearing Disorders
  • Hearing Loss (Hearing impairment)
  • Intellectual Disability (Mental Retardation)
  • Malformations of Cortical Development
  • Mental Disorders Diagnosed in Childhood
  • Microcephaly
  • Muscle Hypotonia
  • Musculoskeletal Abnormalities
  • Neurobehavioral Manifestations
  • Neurologic Manifestations
  • Neuromuscular Manifestations
  • Ocular Motility Disorders
  • Seizures
  • Signs and Symptoms
  • Signs and Symptoms, Digestive
  • Skin Abnormalities
  • Skin Diseases
  • Spinal Curvatures
  • Vision Disorders
  • Vision, Low
  • Vomiting
  • Epilepsy
  • Failure to Thrive
  • Gastrointestinal Hemorrhage
  • Hemorrhage (Bleeding)
  • Psychomotor Disorders
  • Scoliosis
  • Strabismus
  • Skin Diseases, Genetic
References
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
  • Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
  • Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics.
GGDB (Gene Symbol)
Link to the GlycoGene Database		 ALG11