Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00371 (Tree)
Name ATP6VOA2-CDG
Aliases Cutis laxa, autosomal recessive, type IIA (ARCL2A)
V-ATPase a2 subunit defect
ATP6VOA2 defect (cutis laxa type II)
Debre-Type cutis laxa
Disease name:　Preferred Term CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA
Disease name:　Preferred Term ABBR ARCL2A
Disease name:　Synonyms (from OMIM and MeSH) ARCL2
CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY
CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT
CUTIS LAXA, DEBRE TYPE
CUTIS LAXA WITH BONE DYSTROPHY
CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION
UMLS CUI C0268355
UMLS SAB MeSH (SCR)
UMLS CODE C562632
OMIM DATA:　Gene ATP6V0A2
OMIM DATA:　Gene Number 611716
OMIM DATA:　Phenotype Number 219200
Symptoms, signs and abnormal clinical and laboratory findings
  • Bone Diseases, Metabolic
  • Brain Diseases
  • Connective Tissue Diseases
  • Craniofacial Abnormalities
  • Cutis Laxa (Loose skin)
  • Developmental Disabilities
  • Feeding and Eating Disorders of Childhood
  • Growth Disorders
  • Heredodegenerative Disorders, Nervous System
  • Hernia, Abdominal
  • Hernia, Inguinal
  • Hip Dislocation, Congenital
  • Intellectual Disability (Mental Retardation)
  • Joint Diseases
  • Malformations of Cortical Development
  • Maxillofacial Abnormalities
  • Mental Disorders Diagnosed in Childhood
  • Microcephaly
  • Motor Skills Disorders
  • Muscle Hypotonia
  • Musculoskeletal Abnormalities
  • Musculoskeletal Diseases
  • Nervous System Diseases
  • Nervous System Malformations
  • Neurobehavioral Manifestations
  • Neurodegenerative Diseases
  • Neurologic Manifestations
  • Neuromuscular Manifestations
  • Osteoporosis
  • Pathologic Processes
  • Seizures
  • Signs and Symptoms
  • Stomatognathic System Abnormalities
  • Epilepsy
  • Failure to Thrive
  • Joint Instability
  • Myopia
  • Refractive Errors
References
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
  • Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
  • 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.
  • Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
  • 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.
  • 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. Table 4 Defects in multiple glycosylation and other pathways.
  • 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.