Aspartylglucosaminuria

Preferred Label : Aspartylglucosaminuria;

Symbol : AGU;

CISMeF acronym : AGU;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ASPARTYLGLYCOSAMINURIA; Glycosylasparaginase deficiency; GLYCOASPARAGINASE; Aspartylglucosaminidase deficiency; Aga deficiency;

Description : Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aspartylglucosaminidase gene (AGA, 208400.0001);

Laboratory abnormalities : Aspartylglucosaminuria; Little to absent aspartylglucosaminuria activity; Decreased prothrombin time;

Prefixed ID : #208400;

Details

Origin ID

208400;

UMLS CUI

C0268225;

Automatic exact mappings (from CISMeF team)
- Antigen Unit [NCIt concept]
- Hyperammonemia, type III (disorder) [SNOMED CT concept]
- N^4^(beta-N-Acetylglucosaminyl)-L-asparaginase (substance) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aspartylglucosamidase (AGA) deficiency [MeSH concept]
- Aspartylglucosaminuria [PASCAL descriptor]
- Aspartylglucosaminuria [HPO term]
- Aspartylglucosaminuria [ICD-11 More detail]
- Aspartylglucosaminuria [MedDRA Preferred Term]
- Aspartylglucosaminuria [ORDO Disease]
- Aspartylglucosaminuria (disorder) [SNOMED CT concept]
- Aspartylglycosaminuria [NCIt concept]
- Defects in glycoprotein degradation [ICD-10 Sub-category]
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]
- aspartylglucosamidase (AGA) deficiency [MeSH Supplementary Concept]
- aspartylglucosaminuria [DO Concept]
- aspartylglucosaminuria [MeSH Descriptor]
- aspartylglucosaminuria [MeSH concept]
- aspartylglucosaminuria [SNOMED Notion]
DO Cross reference
- aspartylglucosaminuria [DO Concept]
Genes related to phenotype
- Aspartylglucosaminidase [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Acne [HPO term]
- Angiokeratoma corporis diffusum [HPO term]
- Anteverted nares [HPO term]
- Aspartylglucosaminuria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Brachycephaly [HPO term]
- Broad face [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Coarse facial features [HPO term]
- Decreased prothrombin time [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental regression [HPO term]
- Diarrhea [HPO term]
- Dysostosis multiplex [HPO term]
- Full lips [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hernia [HPO term]
- Hoarse voice [HPO term]
- Hypoplastic frontal sinuses [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Kyphosis [HPO term]
- Low nasal bridge [HPO term]
- Macroglossia [HPO term]
- Macroorchidism [HPO term]
- Mental deterioration in childhood [HPO term]
- Microcephaly [HPO term]
- Mitral regurgitation [HPO term]
- Neutropenia [HPO term]
- Pathologic fracture [HPO term]
- Platyspondyly [HPO term]
- Recurrent respiratory infections [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Speech delay [HPO term]
- Spondylolisthesis [HPO term]
- Spondylolysis [HPO term]
- Thick lower lip vermilion [HPO term]
- Thickened calvaria [HPO term]
- Vacuolated lymphocytes [HPO term]
- Wide mouth [HPO term]
- flattening and anterior beaking of vertebral bodies [HPO term]
ORDO concept(s)
- Aspartylglucosaminuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aspartylglucosaminuria [MedDRA Preferred Term]
- Aspartylglucosaminuria [HPO term]
- Aspartylglucosaminuria [PASCAL descriptor]
- Aspartylglucosaminuria (disorder) [SNOMED CT concept]
- Aspartylglycosaminuria [NCIt concept]
- aspartylglucosaminuria [SNOMED Notion]
- aspartylglucosaminuria [MeSH Descriptor]
- aspartylglucosaminuria [MeSH concept]
- aspartylglucosaminuria [DO Concept]

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