| Concept UI |
CON00005 (Tree)
|
| Name |
Aspartylglucosaminuria
|
| Disease name: Preferred Term |
ASPARTYLGLUCOSAMINURIA
|
| Disease name: Preferred Term ABBR |
AGU
|
| Disease name: Synonyms (from OMIM and MeSH) |
ASPARTYLGLUCOSAMINIDASE DEFICIENCY
GLYCOASPARAGINASE
GLYCOSYLASPARAGINASE DEFICIENCY
ASPARTYLGLYCOSAMINURIA
AGA DEFICIENCY
|
| UMLS CUI |
C0268225
|
| UMLS SAB |
ICD-10-CM
|
| UMLS CODE |
E77.1
|
| OMIM DATA: Gene |
AGA
|
| OMIM DATA: Gene Number |
613228
|
| OMIM DATA: Phenotype Number |
208400
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Ataxia
- Behavior
- Behavioral Symptoms
- Bone Diseases
- Bone Diseases, Developmental
- Bone Diseases, Metabolic
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Communication Disorders
- Connective Tissue Diseases
- Craniofacial Abnormalities
- Cutis Laxa (Loose skin)
- Developmental Disabilities
- Diarrhea
- Dyskinesias
- Dysostoses (Dysostosis multiplex)
- Intellectual Disability (Mental Retardation)
- Joint Diseases
- Language Disorders
- Learning Disorders
- Malformations of Cortical Development
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Microcephaly
- Mobility Limitation
- Motor Skills Disorders
- Movement Disorders
- Musculoskeletal Diseases
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Osteoporosis
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Seizures
- Signs and Symptoms
- Signs and Symptoms, Digestive
- Speech Disorders
- Spinal Diseases
- Stomatognathic System Abnormalities
- Epilepsy
|
|
References
|
- 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.
- Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein degradation.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
79
|