Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases categories
Aliases & Descriptions for Aspartylglucosaminuria:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases
Rare neurological diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal recessive; Age of onset: Childhood
NIH Rare Diseases:42 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 lysosomal storage disease and fucosidosis, and has symptoms including thick lower lip vermilion, gingival overgrowth and mandibular prognathia. An important gene associated with Aspartylglucosaminuria is AGA (aspartylglucosaminidase). Affiliated tissues include bone, liver and skin.
Genetics Home Reference:21 Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.
OMIM:46 Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous... (208400) more...
Wikipedia:64 Aspartylglucosaminuria ( commonly referred to as AGU) is an inherited disease that is characterized by a... more...
Diseases related to Aspartylglucosaminuria via text searches within MalaCards or GeneCards Suite gene sharing:(show all 18)
Graphical network of diseases related to Aspartylglucosaminuria:
Symptoms by clinical synopsis from OMIM:208400
Clinical features from OMIM:208400
Symptoms:48 (show all 41)
HPO human phenotypes related to Aspartylglucosaminuria:(show all 76)
MalaCards organs/tissues related to Aspartylglucosaminuria:31
Bone, Liver, Skin, Spleen, Eye, Thyroid, Tongue, Bone marrow, Brain, Kidney, Testes
Articles related to Aspartylglucosaminuria:(show top 50) (show all 83)
UniProtKB/Swiss-Prot genetic disease variations for Aspartylglucosaminuria:63 (show all 12)
Clinvar genetic disease variations for Aspartylglucosaminuria:5 (show all 29)
Search GEO for disease gene expression data for Aspartylglucosaminuria.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet