Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Aspartylglucosaminuria:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Childhood
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases
ICD10: 29 28
Rare neurological diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 Aspartylglycosaminuria is a very rare lysosomal storage disease that causes a progressive decline in mental functioning. infants with aspartylglycosaminuria appear healthy at birth with signs and symptoms beginning around the age of 2 or 3. major symptoms may include coarse facial features, spine and eye deformities, behavior problems, and intellectual disability. symptoms result from a deficiency in an enzyme called aspartylglycosaminidase, which leads to an accumulation of a protein called glycoasparagine in the body tissues and increased excretion of this protein in the urine. aspartylglycosaminuria is inherited in an autosomal recessive fashion and caused by mutations in the aga gene. it is commonly seen in individuals of finnish decent. last updated: 8/17/2011
MalaCards based summary: Aspartylglucosaminuria, also known as aspartylglycosaminuria, is related to fucosidosis and lysosomal storage disease, and has symptoms including thick lower lip vermilion, gingival overgrowth and mandibular prognathia. An important gene associated with Aspartylglucosaminuria is AGA (Aspartylglucosaminidase), and among its related pathways are Fatty acid metabolism and Tyrosine metabolism. Affiliated tissues include bone, skin and eye.
Genetics Home Reference:24 Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.
OMIM:50 Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous... (208400) more...
UniProtKB/Swiss-Prot:68 Aspartylglucosaminuria: An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe mental retardation manifesting from the age of two, coarse facial features and mild connective tissue abnormalities.
Wikipedia:69 Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental... more...
Symptoms by clinical synopsis from OMIM:208400
Clinical features from OMIM:208400
Symptoms:52 (show all 43)
HPO human phenotypes related to Aspartylglucosaminuria:(show all 73)
UMLS symptoms related to Aspartylglucosaminuria:diarrhea, hepatomegaly, hoarseness, muscle spasticity, joint laxity, chyluria, pneumatouria, traumatic hematuria, lethargy, seizures, respiratory distress, vomiting, recurrent
Drugs for Aspartylglucosaminuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 24)
Interventional clinical trials:
Search NIH Clinical Center for Aspartylglucosaminuria
MalaCards organs/tissues related to Aspartylglucosaminuria:34
Bone, Skin, Eye, Bone marrow, Brain, Tongue, Liver
Articles related to Aspartylglucosaminuria:(show top 50) (show all 87)
UniProtKB/Swiss-Prot genetic disease variations for Aspartylglucosaminuria:68 (show all 12)
Clinvar genetic disease variations for Aspartylglucosaminuria:5 (show all 27)
Search GEO for disease gene expression data for Aspartylglucosaminuria.
Pathways related to Aspartylglucosaminuria according to GeneCards Suite gene sharing:
Cellular components related to Aspartylglucosaminuria according to GeneCards Suite gene sharing:
Biological processes related to Aspartylglucosaminuria according to GeneCards Suite gene sharing:
Molecular functions related to Aspartylglucosaminuria according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet