Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00388 (Tree)
Name B4GALT7-CDG
Aliases Ehlers-Danlos syndrome, progeroid type, 1
Ehlers-Danlos syndrome, progeroid form
Galactosyltransferase 1 deficiency
Disease name:　Preferred Term EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1
Disease name:　Preferred Term ABBR EDSP1
Disease name:　Synonyms (from OMIM and MeSH) PROTEODERMATAN SULFATE, DEFECTIVE BIOSYNTHESIS OF
GALACTOSYLTRANSFERASE I DEFICIENCY
XGPT DEFICIENCY
XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY
DERMATAN SULFATE PROTEOGLYCAN
Progeroid variant of Ehlers-Danlos syndrome
PDS, DEFECTIVE BIOSYNTHESIS OF
UMLS CUI C1869122
UMLS SAB MeSH (SCR)
UMLS CODE C536201
OMIM DATA:　Gene B4GALT7
OMIM DATA:　Gene Number 604327
OMIM DATA:　Phenotype Number 130070
Symptoms, signs and abnormal clinical and laboratory findings
  • Bone Diseases, Developmental
  • Bone Diseases, Metabolic
  • Connective Tissue Diseases
  • Craniofacial Abnormalities
  • Cutis Laxa (Loose skin)
  • Developmental Disabilities
  • Dwarfism (Short stature disorder)
  • Intellectual Disability (Mental Retardation)
  • Joint Diseases
  • Maxillofacial Abnormalities
  • Mental Disorders Diagnosed in Childhood
  • Muscle Hypotonia
  • Musculoskeletal Abnormalities
  • Neurobehavioral Manifestations
  • Neuromuscular Manifestations
  • Osteoporosis
  • Skin and Connective Tissue Diseases
  • Stomatognathic System Abnormalities
  • Joint Instability
  • Tooth Abnormalities
References
  • Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672.
  • Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
  • Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways.
  • Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464.
  • Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
  • Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
  • Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
  • 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.
GGDB (Gene Symbol)
Link to the GlycoGene Database		 B4GALT7