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Disease Profile
Aspartylglycosaminuria
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Childhood
ICD-10
E77.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Aspartylglucosaminuria; Aspartylglucosamidase (AGA) deficiency; AGU;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases;
Summary
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
Symptoms
People with this condition may also have bones that become progressively weak and prone to fracture (
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of |
0004337 | |
Aspartylglucosaminuria |
High urine aspartylglucosamine levels
|
0012068 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Dyskinesia |
Disorder of involuntary muscle movements
|
0100660 |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Large face |
Big face
|
0100729 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Scoliosis | 0002650 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
Umbilical hernia | 0001537 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
30%-79% of people have these symptoms | ||
Abnormal cortical bone morphology | 0003103 | |
Abnormality of the ulna | 0002997 | |
Anterior beaking of lumbar vertebrae | 0008430 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Macroorchidism |
Large testis
|
0000053 |
Pectus carinatum |
Pigeon chest
|
0000768 |
Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ] |
0002684 |
5%-29% of people have these symptoms | ||
Joint inflammation
|
0001369 | |
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Inguinal hernia | 0000023 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Malabsorption |
Intestinal malabsorption
|
0002024 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Seizure | 0001250 | |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
Splenomegaly |
Increased spleen size
|
0001744 |
Vascular skin abnormality | 0011276 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
Acne | 0001061 | |
Angiokeratoma corporis diffusum | 0001071 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
0000007 | ||
Beaking of vertebral bodies | 0004568 | |
Brachycephaly |
Short and broad skull
|
0000248 |
Broad face |
Increased breadth of face
Increased width of face
Wide face
[ more ] |
0000283 |
Cataract |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Decreased prothrombin time | 0032198 |