AGU
MCID: ASP002
MIFTS: 57

Aspartylglucosaminuria (AGU)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Aspartylglucosaminuria

MalaCards integrated aliases for Aspartylglucosaminuria:

Name: Aspartylglucosaminuria 57 12 20 43 58 72 36 29 13 6 44 15 39 70
Aspartylglycosaminuria 57 12 73 20 43 72
Aspartylglucosaminidase Deficiency 57 12 43 58 72
Glycosylasparaginase Deficiency 57 12 20 43 72
Aga Deficiency 57 20 43 72
Agu 57 20 72
Aspartylglucosamidase Deficiency 20 70
Aspartylglucosamidase Deficiency 43
Hyperammonemia, Type Iii 70
Glycoasparaginase 57

Characteristics:

Orphanet epidemiological data:

58
aspartylglucosaminuria
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
increased frequency in the finnish population
98% of finnish cases due to one mutation
carrier frequency in finland 1/40
onset of symptoms 2-6 years of age


HPO:

31
aspartylglucosaminuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Inborn errors of metabolism


Summaries for Aspartylglucosaminuria

MedlinePlus Genetics : 43 Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.Infants with aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. The first sign of this condition, evident around the age of 2 or 3, is usually delayed speech. Mild intellectual disability then becomes apparent, and learning occurs at a slowed pace. Intellectual disability progressively worsens in adolescence. Most people with this disorder lose much of the speech they have learned, and affected adults usually have only a few words in their vocabulary. Adults with aspartylglucosaminuria may develop seizures or problems with movement.People with this condition may also have bones that become progressively weak and prone to fracture (osteoporosis), an unusually large range of joint movement (hypermobility), and loose skin. Affected individuals tend to have a characteristic facial appearance that includes widely spaced eyes (ocular hypertelorism), small ears, and full lips. The nose is short and broad and the face is usually square-shaped. Children with this condition may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short. Affected children also tend to have frequent upper respiratory infections. Individuals with aspartylglucosaminuria usually survive into mid-adulthood.

MalaCards based summary : Aspartylglucosaminuria, also known as aspartylglycosaminuria, is related to angiokeratoma and tay-sachs disease, and has symptoms including seizures, lethargy and respiratory distress. An important gene associated with Aspartylglucosaminuria is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Other glycan degradation and Lysosome. The drugs Mesna and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and brain, and related phenotypes are intellectual disability and neurological speech impairment

Disease Ontology : 12 A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has material basis in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.

GARD : 20 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.

OMIM® : 57 Aspartylglucosaminuria (AGU) 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). (208400) (Updated 05-Apr-2021)

KEGG : 36 Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by deficiency of aspartylglucosaminidase, which is a key enzyme in the catabolism of N-linked oligosaccharides of glycoproteins. The enzymatic defect results in inappropriate accumulation of aspartylglucosamines in various organ systems as well as elevated metabolite levels in urine. The main symptoms of aspartylglucosaminuria are progressive mental retardation, coarce faces, behavioral, and hepatosplenomegaly.

UniProtKB/Swiss-Prot : 72 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 : 73 Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental... more...

Related Diseases for Aspartylglucosaminuria

Diseases related to Aspartylglucosaminuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 angiokeratoma 30.2 CTSA AGA
2 tay-sachs disease 29.3 PSAP M6PR CLN6 CLN3
3 glycoproteinosis 29.3 PSAP CTSA CLN6 CLN3
4 lysosomal storage disease 29.2 PSAP M6PR CTSA CLN6 CLN5 CLN3
5 neuronal ceroid-lipofuscinoses 28.8 PSAP CLN6 CLN5 CLN3
6 mucopolysaccharidosis-plus syndrome 28.6 M6PR CTSA CLN6 CLN5 CLN3
7 neuronal ceroid lipofuscinosis 28.6 PSAP M6PR CLN6 CLN5 CLN3
8 serine deficiency 10.9
9 methanol poisoning 10.2 ADH1C ADH1B
10 avascular necrosis 10.2 ADH1C ADH1B
11 alcohol-related birth defect 10.2 ADH1C ADH1B
12 gangliosidosis 10.2 PSAP CTSA
13 tremor 10.2
14 hypopharynx cancer 10.2 ERCC6 ADH1B
15 alacrima, achalasia, and mental retardation syndrome 10.2
16 alcoholic pancreatitis 10.1 ADH1C ADH1B
17 lysosomal disease 10.1
18 mucopolysaccharidosis, type iva 10.1 M6PR CTSA
19 fabry disease 10.1 PSAP M6PR AGA
20 autosomal recessive disease 10.1
21 xeroderma pigmentosum, complementation group a 10.0 PSAP ERCC6
22 galactosialidosis 10.0 PSAP M6PR CTSA
23 sphingolipidosis 10.0 PSAP M6PR CTSA
24 fetal alcohol syndrome 10.0 ADH1C ADH1B
25 mucopolysaccharidosis, type iiib 10.0 M6PR CLN6
26 fucosidosis 10.0
27 inguinal hernia 10.0
28 leukodystrophy 10.0
29 gaucher's disease 10.0
30 inherited metabolic disorder 10.0
31 hypotonia 10.0
32 seizure disorder 10.0
33 overgrowth syndrome 10.0
34 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.9 CLN6 CLN3
35 adult neuronal ceroid lipofuscinosis 9.9 PSAP CLN6
36 aging 9.9
37 movement disease 9.9
38 down syndrome 9.9
39 gaucher disease, type i 9.9
40 glycoprotein storage disease 9.9
41 fragile x syndrome 9.9
42 salla disease 9.9
43 hydronephrosis 9.9
44 ehlers-danlos syndrome 9.9
45 dysostosis 9.9
46 chromosomal triplication 9.9
47 lysosomal storage disease with skeletal involvement 9.9
48 mucopolysaccharidosis iv 9.9 M6PR CTSA
49 peripheral retinal degeneration 9.8 CLN5 CLN3
50 sandhoff disease 9.8 PSAP CLN6

Graphical network of the top 20 diseases related to Aspartylglucosaminuria:



Diseases related to Aspartylglucosaminuria

Symptoms & Phenotypes for Aspartylglucosaminuria

Human phenotypes related to Aspartylglucosaminuria:

58 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
3 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
4 large face 58 31 hallmark (90%) Very frequent (99-80%) HP:0100729
5 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
6 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
7 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
8 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
9 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
10 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
11 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
12 abnormality of amino acid metabolism 58 31 hallmark (90%) Very frequent (99-80%) HP:0004337
13 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
14 aspartylglucosaminuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0012068
15 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
16 dyskinesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100660
17 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
18 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
19 macroorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000053
20 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
21 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
22 thickened calvaria 58 31 frequent (33%) Frequent (79-30%) HP:0002684
23 abnormality of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0002997
24 abnormal cortical bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0003103
25 anterior beaking of lumbar vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0008430
26 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
27 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
28 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
29 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
30 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
31 chronic otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000389
32 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
33 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
34 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
35 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
36 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
37 vascular skin abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0011276
38 seizure 31 occasional (7.5%) HP:0001250
39 beaking of vertebral bodies 58 31 Occasional (29-5%) HP:0004568
40 seizures 58 Occasional (29-5%)
41 spasticity 31 HP:0001257
42 kyphosis 31 HP:0002808
43 developmental regression 31 HP:0002376
44 cataract 31 HP:0000518
45 depressed nasal bridge 31 HP:0005280
46 behavioral abnormality 58 Occasional (29-5%)
47 abnormality of the dentition 58 Frequent (79-30%)
48 abnormal facial shape 58 Very frequent (99-80%)
49 abnormal vertebral morphology 58 Occasional (29-5%)
50 microcephaly 31 HP:0000252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
cerebral atrophy
hypotonia
mental retardation
speech delay
more
Head And Neck Mouth:
macroglossia
wide mouth
thick lips

Skeletal:
delayed skeletal maturation
mild dysostosis multiplex

Genitourinary External Genitalia Male:
macroorchidism

Head And Neck Head:
microcephaly
brachycephaly

Skin Nails Hair Skin:
acne
angiokeratoma corporis diffusum

Voice:
hoarse voice

Immunology:
recurrent infections

Head And Neck Face:
broad face
coarse facies

Abdomen External Features:
hernias

Cardiovascular Heart:
mitral insufficiency

Skeletal Spine:
scoliosis
kyphosis
spondylolisthesis
spondylolysis
flattening and anterior beaking of vertebral bodies

Abdomen Liver:
hepatomegaly

Respiratory Lung:
recurrent respiratory infections

Laboratory Abnormalities:
aspartylglucosaminuria
decreased prothrombin time
little to absent aspartylglucosaminuria activity

Growth Height:
short stature

Skeletal Limbs:
joint laxity
pathologic fractures

Hematology:
neutropenia
vacuolated lymphocytes

Abdomen Gastrointestinal:
diarrhea

Head And Neck Nose:
anteverted nostrils
low nasal bridge

Head And Neck Eyes:
crystal-like lens opacity

Skeletal Skull:
thick calvaria
underdeveloped frontal sinuses

Clinical features from OMIM®:

208400 (Updated 05-Apr-2021)

UMLS symptoms related to Aspartylglucosaminuria:


seizures; lethargy; respiratory distress; diarrhea; hoarseness; muscle spasticity; vomiting, recurrent

Drugs & Therapeutics for Aspartylglucosaminuria

Drugs for Aspartylglucosaminuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mesna Approved, Investigational Phase 2 3375-50-6 598
2
tannic acid Approved Phase 2 1401-55-4
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Mycophenolic acid Approved Phase 2 24280-93-1 446541
5
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
6
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
7
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
8
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
9
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
10
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
11
Tocopherol Approved, Investigational Phase 2 1406-66-2
12
rituximab Approved Phase 2 174722-31-7 10201696
13
alemtuzumab Approved, Investigational Phase 2 216503-57-0
14
Busulfan Approved, Investigational Phase 2 55-98-1 2478
15
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
16
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
17 Tocotrienol Investigational Phase 2 6829-55-6
18 Antibiotics, Antitubercular Phase 2
19 Cyclosporins Phase 2
20 Anti-Infective Agents Phase 2
21 Anti-Bacterial Agents Phase 2
22 Antitubercular Agents Phase 2
23 Dermatologic Agents Phase 2
24 Antifungal Agents Phase 2
25 Calcineurin Inhibitors Phase 2
26 Alpha-lipoic Acid Phase 2
27 Vitamins Phase 2
28 Tocopherols Phase 2
29 Tocotrienols Phase 2
30 Antilymphocyte Serum Phase 2
31 N-monoacetylcystine Phase 2
32 Thioctic Acid Phase 2
33 Immunosuppressive Agents Phase 2
34 Antineoplastic Agents, Immunological Phase 2
35 Immunologic Factors Phase 2
36 Antirheumatic Agents Phase 2
37 Alkylating Agents Phase 2
38 polysaccharide-K

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
2 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
3 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
4 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
5 A Natural History Study of Aspartylglucosaminuria Suspended NCT03853876

Search NIH Clinical Center for Aspartylglucosaminuria

Cochrane evidence based reviews: aspartylglucosaminuria

Genetic Tests for Aspartylglucosaminuria

Genetic tests related to Aspartylglucosaminuria:

# Genetic test Affiliating Genes
1 Aspartylglucosaminuria 29 AGA

Anatomical Context for Aspartylglucosaminuria

MalaCards organs/tissues related to Aspartylglucosaminuria:

40
Eye, Bone, Brain, Bone Marrow, Liver, Kidney, Spleen

Publications for Aspartylglucosaminuria

Articles related to Aspartylglucosaminuria:

(show top 50) (show all 253)
# Title Authors PMID Year
1
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene. 61 6 57
7627186 1995
2
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. 6 57 61
8064811 1994
3
Spectrum of mutations in aspartylglucosaminuria. 61 57 6
1722323 1991
4
In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation. 6 57 61
1765378 1991
5
Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits. 6 57 61
1904874 1991
6
Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase. 57 6 61
2011603 1991
7
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. 61 57 6
1703489 1991
8
Aspartylglucosaminuria in the United States. 61 57 6
6883788 1983
9
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria. 6 61
27876883 2016
10
Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria. 61 6
25456816 2014
11
Structural basis of aspartylglucosaminuria. 6 61
18992224 2008
12
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria. 57 61
12366426 2002
13
Progressive nature of aspartylglucosaminuria. 61 57
12022293 2002
14
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. 61 6
11309371 2001
15
Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients. 61 57
11174635 2001
16
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. 61 57
10353787 1999
17
Progressive neurodegeneration in aspartylglycosaminuria mice. 57 61
9777961 1998
18
Expression and endocytosis of lysosomal aspartylglucosaminidase in mouse primary neurons. 61 6
9742145 1998
19
Aspartylglucosaminuria in a Canadian family. 61 57
9627765 1998
20
Aspartylglucosaminuria among Palestinian Arabs. 61 57
9427148 1997
21
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. 6 61
9137882 1997
22
A mouse model for the human lysosomal disease aspartylglycosaminuria. 57 61
8946839 1996
23
Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation. 61 6
8776587 1996
24
Neonatal detection of aspartylglycosaminuria. 57 61
7910306 1994
25
Dissection of the molecular consequences of a double mutation causing a human lysosomal disease. 6 61
8172656 1994
26
Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation. 61 57
8405810 1993
27
Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient. 6 61
8457202 1993
28
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. 61 6
1559710 1992
29
Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene. 61 57
1737774 1992
30
Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease. 61 57
1301945 1992
31
Two Japanese cases with aspartylglycosaminuria: clinical and morphological features. 57 61
1756604 1991
32
Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient. 6 61
1879549 1991
33
High prevalence of aspartylglycosaminuria among school-age children in eastern Finland. 61 57
1864600 1991
34
Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4. 61 57
1973404 1990
35
[Aspartylglucosaminuria. Clinical description of 2 German patients]. 61 6
2811876 1989
36
Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder. 61 57
3228136 1988
37
Homozygous NADH-methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded Sicilian child. 57 61
6517093 1984
38
Prenatal diagnosis and fetal pathology of aspartylglucosaminuria. 57 61
6507482 1984
39
Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics. 61 57
6796777 1981
40
Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family. 57 61
6788730 1981
41
Accumulation of glycoprotein-derived metabolites in neural and visceral tissue in aspartylglycosaminuria. 57 61
7419967 1980
42
Aspartylglucosaminuria: unique biochemical and ultrastructural characteristics. 61 57
939543 1976
43
Letter: Aspartylglycosaminuria in Northern Norway. 57 61
57494 1976
44
Aspartylglucosaminuria: psychomotor retardation masquerading as a mucopolysaccharidosis. 57 61
805826 1975
45
Eleven new cases of aspartylglucosaminuria. 61 57
5512217 1970
46
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect. 57 61
4173687 1968
47
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. 6
29930972 2018
48
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
49
A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping. 6
10399108 1999
50
Primary folding of aspartylglucosaminidase. Significance of disulfide bridges and evidence of early multimerization. 6
8702913 1996

Variations for Aspartylglucosaminuria

ClinVar genetic disease variations for Aspartylglucosaminuria:

6 (show top 50) (show all 152)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AGA NM_000027.4(AGA):c.367_368AC[3] (p.Thr125fs) Microsatellite Pathogenic 55944 rs386833425 GRCh37: 4:178360748-178360751
GRCh38: 4:177439594-177439597
2 AGA NM_000027.4(AGA):c.904G>A (p.Gly302Arg) SNV Pathogenic 220 rs121964905 GRCh37: 4:178354404-178354404
GRCh38: 4:177433250-177433250
3 AGA NM_000027.4(AGA):c.916T>C (p.Cys306Arg) SNV Pathogenic 221 rs121964906 GRCh37: 4:178354392-178354392
GRCh38: 4:177433238-177433238
4 AGA NM_000027.4(AGA):c.800del (p.Leu267fs) Deletion Pathogenic 228 rs794728009 GRCh37: 4:178355542-178355542
GRCh38: 4:177434388-177434388
5 AGA NM_000027.4(AGA):c.214T>C (p.Ser72Pro) SNV Pathogenic 229 rs121964909 GRCh37: 4:178361494-178361494
GRCh38: 4:177440340-177440340
6 AGA NM_000027.4(AGA):c.336del (p.Ile112fs) Deletion Pathogenic 55941 rs386833422 GRCh37: 4:178360788-178360788
GRCh38: 4:177439634-177439634
7 AGA NM_000027.4(AGA):c.216del (p.Ser72_Val73insTer) Deletion Pathogenic 623289 rs1560950739 GRCh37: 4:178361492-178361492
GRCh38: 4:177440338-177440338
8 AGA NM_000027.4(AGA):c.319C>T (p.Arg107Ter) SNV Pathogenic 291257 rs765070743 GRCh37: 4:178360805-178360805
GRCh38: 4:177439651-177439651
9 AGA NM_000027.4(AGA):c.367_368AC[4] (p.Leu126fs) Microsatellite Pathogenic 835213 GRCh37: 4:178360748-178360749
GRCh38: 4:177439594-177439595
10 AGA NM_000027.4(AGA):c.555_558del (p.Gly186fs) Deletion Pathogenic 835340 GRCh37: 4:178358623-178358626
GRCh38: 4:177437469-177437472
11 AGA NM_000027.4(AGA):c.859C>T (p.Gln287Ter) SNV Pathogenic 852651 GRCh37: 4:178354449-178354449
GRCh38: 4:177433295-177433295
12 AGA NM_000027.4(AGA):c.367_371del (p.Thr123fs) Deletion Pathogenic 855317 GRCh37: 4:178360753-178360757
GRCh38: 4:177439599-177439603
13 AGA NM_000027.4(AGA):c.210del (p.Asp70fs) Deletion Pathogenic 956675 GRCh37: 4:178361498-178361498
GRCh38: 4:177440344-177440344
14 AGA NM_000027.4(AGA):c.488G>C (p.Cys163Ser) SNV Pathogenic 219 rs121964904 GRCh37: 4:178359918-178359918
GRCh38: 4:177438764-177438764
15 AGA NM_000027.4(AGA):c.101_107del (p.Trp34fs) Deletion Pathogenic 495346 rs759063638 GRCh37: 4:178363423-178363429
GRCh38: 4:177442269-177442275
16 AGA NM_000027.4(AGA):c.800dup (p.Pro268fs) Duplication Pathogenic/Likely pathogenic 225 rs386833436 GRCh37: 4:178355541-178355542
GRCh38: 4:177434387-177434388
17 AGA NM_000027.4(AGA):c.473G>A (p.Trp158Ter) SNV Pathogenic/Likely pathogenic 370266 rs745976989 GRCh37: 4:178359933-178359933
GRCh38: 4:177438779-177438779
18 AGA NM_000027.4(AGA):c.194_195AG[3] (p.Glu67fs) Microsatellite Pathogenic/Likely pathogenic 55939 rs386833420 GRCh37: 4:178361507-178361508
GRCh38: 4:177440353-177440354
19 AGA NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer) Deletion Pathogenic/Likely pathogenic 224 rs386833417 GRCh37: 4:178363422-178363428
GRCh38: 4:177442268-177442274
20 AGA NM_000027.4(AGA):c.127_128insATGCGG (p.Ala43_Trp44insAspAla) Insertion Pathogenic/Likely pathogenic 226 rs386833418 GRCh37: 4:178363402-178363403
GRCh38: 4:177442248-177442249
21 AGA NM_000027.4(AGA):c.940+1G>T SNV Likely pathogenic 227 rs386833437 GRCh37: 4:178354367-178354367
GRCh38: 4:177433213-177433213
22 AGA NM_000027.4(AGA):c.299G>A (p.Gly100Glu) SNV Likely pathogenic 55940 rs386833421 GRCh37: 4:178360825-178360825
GRCh38: 4:177439671-177439671
23 AGA NM_000027.4(AGA):c.192T>A (p.Cys64Ter) SNV Likely pathogenic 55938 rs386833419 GRCh37: 4:178361516-178361516
GRCh38: 4:177440362-177440362
24 AGA NM_000027.4(AGA):c.346C>T (p.Arg116Trp) SNV Likely pathogenic 55942 rs386833423 GRCh37: 4:178360778-178360778
GRCh38: 4:177439624-177439624
25 AGA NM_000027.4(AGA):c.369_373del (p.His124fs) Deletion Likely pathogenic 55943 rs386833424 GRCh37: 4:178360751-178360755
GRCh38: 4:177439597-177439601
26 AGA NM_000027.4(AGA):c.395-8A>G SNV Likely pathogenic 55945 rs386833426 GRCh37: 4:178360019-178360019
GRCh38: 4:177438865-177438865
27 AGA NM_000027.4(AGA):c.404T>C (p.Phe135Ser) SNV Likely pathogenic 55946 rs386833427 GRCh37: 4:178360002-178360002
GRCh38: 4:177438848-177438848
28 AGA NM_000027.4(AGA):c.439T>C (p.Ser147Pro) SNV Likely pathogenic 55947 rs386833428 GRCh37: 4:178359967-178359967
GRCh38: 4:177438813-177438813
29 AGA NM_000027.4(AGA):c.44T>G (p.Leu15Arg) SNV Likely pathogenic 55948 rs386833429 GRCh37: 4:178363486-178363486
GRCh38: 4:177442332-177442332
30 AGA NM_000027.4(AGA):c.503G>A (p.Trp168Ter) SNV Likely pathogenic 55949 rs386833430 GRCh37: 4:178359903-178359903
GRCh38: 4:177438749-177438749
31 AGA NM_000027.4(AGA):c.754G>C (p.Gly252Arg) SNV Likely pathogenic 55951 rs386833432 GRCh37: 4:178355588-178355588
GRCh38: 4:177434434-177434434
32 AGA NM_000027.4(AGA):c.755G>A (p.Gly252Glu) SNV Likely pathogenic 55952 rs386833433 GRCh37: 4:178355587-178355587
GRCh38: 4:177434433-177434433
33 AGA NM_000027.4(AGA):c.770C>T (p.Thr257Ile) SNV Likely pathogenic 55953 rs386833434 GRCh37: 4:178355572-178355572
GRCh38: 4:177434418-177434418
34 AGA NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer) Deletion Likely pathogenic 55954 rs386833435 GRCh37: 4:178355554-178355554
GRCh38: 4:177434400-177434400
35 AGA NM_000027.4(AGA):c.70del (p.Ser24fs) Deletion Likely pathogenic 371395 rs1057517239 GRCh37: 4:178363460-178363460
GRCh38: 4:177442306-177442306
36 AGA NM_000027.4(AGA):c.127+1G>A SNV Likely pathogenic 370533 rs1057516565 GRCh37: 4:178363402-178363402
GRCh38: 4:177442248-177442248
37 AGA NM_000027.4(AGA):c.333del (p.Ile112fs) Deletion Likely pathogenic 371375 rs1057517223 GRCh37: 4:178360791-178360791
GRCh38: 4:177439637-177439637
38 AGA NM_000027.4(AGA):c.490C>T (p.Gln164Ter) SNV Likely pathogenic 371514 rs1057517329 GRCh37: 4:178359916-178359916
GRCh38: 4:177438762-177438762
39 AGA NM_000027.4(AGA):c.623-2A>G SNV Likely pathogenic 550044 rs1483909684 GRCh37: 4:178357507-178357507
GRCh38: 4:177436353-177436353
40 AGA NM_000027.4(AGA):c.281+1G>T SNV Likely pathogenic 550676 rs1553994812 GRCh37: 4:178361426-178361426
GRCh38: 4:177440272-177440272
41 AGA NM_000027.4(AGA):c.192del (p.Cys64fs) Deletion Likely pathogenic 550967 rs1553994830 GRCh37: 4:178361516-178361516
GRCh38: 4:177440362-177440362
42 AGA NM_000027.4(AGA):c.3G>C (p.Met1Ile) SNV Likely pathogenic 551282 rs937973897 GRCh37: 4:178363527-178363527
GRCh38: 4:177442373-177442373
43 AGA NM_000027.4(AGA):c.993T>G (p.Tyr331Ter) SNV Likely pathogenic 552400 rs1201784742 GRCh37: 4:178352910-178352910
GRCh38: 4:177431756-177431756
44 AGA NM_000027.4(AGA):c.86del (p.Leu29fs) Deletion Likely pathogenic 552792 rs764598121 GRCh37: 4:178363444-178363444
GRCh38: 4:177442290-177442290
45 AGA NM_000027.4(AGA):c.941-2A>G SNV Likely pathogenic 552967 rs1553993921 GRCh37: 4:178352964-178352964
GRCh38: 4:177431810-177431810
46 AGA NM_000027.4(AGA):c.698+1G>A SNV Likely pathogenic 641051 rs1057517175 GRCh37: 4:178357429-178357429
GRCh38: 4:177436275-177436275
47 AGA NM_000027.4(AGA):c.28del (p.Leu10fs) Deletion Likely pathogenic 371172 rs1057517062 GRCh37: 4:178363502-178363502
GRCh38: 4:177442348-177442348
48 AGA NM_000027.4(AGA):c.1A>G (p.Met1Val) SNV Likely pathogenic 371140 rs1054938291 GRCh37: 4:178363529-178363529
GRCh38: 4:177442375-177442375
49 AGA NM_000027.4(AGA):c.940+1G>A SNV Likely pathogenic 555229 rs386833437 GRCh37: 4:178354367-178354367
GRCh38: 4:177433213-177433213
50 AGA NM_000027.4(AGA):c.376del (p.Leu126fs) Deletion Likely pathogenic 556567 rs1553994755 GRCh37: 4:178360748-178360748
GRCh38: 4:177439594-177439594

UniProtKB/Swiss-Prot genetic disease variations for Aspartylglucosaminuria:

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 AGA p.Gly60Asp VAR_005069 rs121964907
2 AGA p.Ser72Pro VAR_005070 rs121964909
3 AGA p.Ala101Val VAR_005071 rs121964908
4 AGA p.Arg161Gln VAR_005072 rs192195150
5 AGA p.Cys163Ser VAR_005073 rs121964904
6 AGA p.Gly302Arg VAR_005074 rs121964905
7 AGA p.Cys306Arg VAR_005075 rs121964906
8 AGA p.Gly100Glu VAR_015428 rs386833421
9 AGA p.Phe135Ser VAR_015429 rs386833427
10 AGA p.Gly252Glu VAR_015430 rs386833433
11 AGA p.Gly252Arg VAR_015431 rs386833432
12 AGA p.Thr257Ile VAR_015432 rs386833434

Expression for Aspartylglucosaminuria

Search GEO for disease gene expression data for Aspartylglucosaminuria.

Pathways for Aspartylglucosaminuria

Pathways related to Aspartylglucosaminuria according to KEGG:

36
# Name Kegg Source Accession
1 Other glycan degradation hsa00511
2 Lysosome hsa04142

Pathways related to Aspartylglucosaminuria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.21 PSAP M6PR CTSA CLN5 CLN3 AGA
2
Show member pathways
10.75 ADH1C ADH1B
3 10.27 ADH1C ADH1B
4 9.73 ASRGL1 ASPG AGA

GO Terms for Aspartylglucosaminuria

Cellular components related to Aspartylglucosaminuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.35 PSAP M6PR CTSA CLN5 CLN3
2 late endosome GO:0005770 9.33 PSAP M6PR CLN3
3 lysosome GO:0005764 9.1 PSAP M6PR CTSA CLN5 CLN3 AGA

Biological processes related to Aspartylglucosaminuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glycosphingolipid metabolic process GO:0006687 9.4 PSAP CTSA
2 protein catabolic process GO:0030163 9.37 CLN6 CLN5
3 retinoic acid metabolic process GO:0042573 9.32 ADH1C ADH1B
4 lysosomal transport GO:0007041 9.26 PSAP M6PR
5 ethanol oxidation GO:0006069 9.16 ADH1C ADH1B
6 lysosome organization GO:0007040 9.13 CLN6 CLN5 CLN3
7 lysosomal lumen acidification GO:0007042 8.8 CLN6 CLN5 CLN3

Molecular functions related to Aspartylglucosaminuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.87 ERCC6 DCTPP1 DCTD CTSA ASRGL1 ASPG
2 retinol dehydrogenase activity GO:0004745 9.37 ADH1C ADH1B
3 alcohol dehydrogenase activity, zinc-dependent GO:0004024 9.26 ADH1C ADH1B
4 sulfatide binding GO:0120146 9.16 CLN6 CLN3
5 asparaginase activity GO:0004067 8.96 ASRGL1 ASPG
6 N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity GO:0003948 8.62 ASRGL1 AGA

Sources for Aspartylglucosaminuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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