AGU
MCID: ASP002
MIFTS: 55

Aspartylglucosaminuria (AGU)

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

Aliases & Classifications for Aspartylglucosaminuria

MalaCards integrated aliases for Aspartylglucosaminuria:

Name: Aspartylglucosaminuria 58 12 54 26 60 76 38 30 13 6 45 15 41 74
Aspartylglycosaminuria 58 12 77 54 26 76
Aspartylglucosaminidase Deficiency 58 12 26 60 76
Glycosylasparaginase Deficiency 58 12 54 26 76
Aga Deficiency 58 54 26 76
Agu 58 54 76
Aspartylglucosamidase Deficiency 54 74
Aspartylglucosamidase Deficiency 26
Hyperammonemia, Type Iii 74
Aspartylglucosaminidase 13
Glycoasparaginase 58

Characteristics:

Orphanet epidemiological data:

60
aspartylglucosaminuria
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Childhood;

OMIM:

58
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:

33
aspartylglucosaminuria:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aspartylglucosaminuria

NIH Rare Diseases : 54 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.

MalaCards based summary : Aspartylglucosaminuria, also known as aspartylglycosaminuria, is related to lysosomal storage disease and fucosidosis, and has symptoms including seizures, respiratory distress and diarrhea. An important gene associated with Aspartylglucosaminuria is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Other glycan degradation and Lysosome. The drugs tannic acid and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye, and related phenotypes are hypertelorism and intellectual disability

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.

Genetics Home Reference : 26 Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.

OMIM : 58 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). (208400)

UniProtKB/Swiss-Prot : 76 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 : 77 Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental... more...

Related Diseases for Aspartylglucosaminuria

Graphical network of the top 20 diseases related to Aspartylglucosaminuria:



Diseases related to Aspartylglucosaminuria

Symptoms & Phenotypes for Aspartylglucosaminuria

Human phenotypes related to Aspartylglucosaminuria:

60 33 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
4 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
5 large face 60 33 hallmark (90%) Very frequent (99-80%) HP:0100729
6 gingival overgrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000212
7 mandibular prognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000303
8 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
9 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
10 umbilical hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001537
11 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
12 abnormality of amino acid metabolism 60 33 hallmark (90%) Very frequent (99-80%) HP:0004337
13 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
14 aspartylglucosaminuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0012068
15 thick vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0012471
16 dyskinesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100660
17 macroglossia 60 33 frequent (33%) Frequent (79-30%) HP:0000158
18 coarse facial features 60 33 frequent (33%) Frequent (79-30%) HP:0000280
19 macroorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000053
20 carious teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000670
21 pectus carinatum 60 33 frequent (33%) Frequent (79-30%) HP:0000768
22 thickened calvaria 60 33 frequent (33%) Frequent (79-30%) HP:0002684
23 abnormality of the ulna 60 33 frequent (33%) Frequent (79-30%) HP:0002997
24 abnormal cortical bone morphology 60 33 frequent (33%) Frequent (79-30%) HP:0003103
25 anterior beaking of lumbar vertebrae 60 33 frequent (33%) Frequent (79-30%) HP:0008430
26 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
27 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
28 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
29 chronic otitis media 60 33 occasional (7.5%) Occasional (29-5%) HP:0000389
30 arthritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001369
31 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
32 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
33 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
34 delayed skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002750
35 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
36 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
37 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
38 vascular skin abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0011276
39 beaking of vertebral bodies 60 33 Occasional (29-5%) HP:0004568
40 muscular hypotonia 33 HP:0001252
41 spasticity 33 HP:0001257
42 developmental regression 33 HP:0002376
43 kyphosis 33 HP:0002808
44 cataract 33 HP:0000518
45 behavioral abnormality 60 Occasional (29-5%)
46 depressed nasal bridge 33 HP:0005280
47 abnormality of the dentition 60 Frequent (79-30%)
48 abnormal facial shape 60 Very frequent (99-80%)
49 abnormal vertebral morphology 60 Occasional (29-5%)
50 microcephaly 33 HP:0000252

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
cerebral atrophy
hypotonia
mental retardation
speech delay
more
Head And Neck Mouth:
macroglossia
wide mouth
thick lips

Abdomen Liver:
hepatomegaly

Genitourinary External Genitalia Male:
macroorchidism

Head And Neck Head:
microcephaly
brachycephaly

Skin Nails Hair Skin:
acne
angiokeratoma corporis diffusum

Immunology:
recurrent infections

Hematology:
neutropenia
vacuolated lymphocytes

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

Respiratory Lung:
recurrent respiratory infections

Skeletal:
delayed skeletal maturation
mild dysostosis multiplex

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

Growth Height:
short stature

Skeletal Limbs:
joint laxity
pathologic fractures

Abdomen Gastrointestinal:
diarrhea

Voice:
hoarse voice

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

UMLS symptoms related to Aspartylglucosaminuria:


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

Drugs & Therapeutics for Aspartylglucosaminuria

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 2 1401-55-4
2
Busulfan Approved, Investigational Phase 2 55-98-1 2478
3
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
4
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
5
Mycophenolic acid Approved Phase 2 24280-93-1 446541
6
alemtuzumab Approved, Investigational Phase 2 216503-57-0
7
Mesna Approved, Investigational Phase 2 3375-50-6 598
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
10
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
11
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
12
rituximab Approved Phase 2 174722-31-7 10201696
13
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
14
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
15
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
16 Tocotrienol Investigational Phase 2 6829-55-6
17 Dermatologic Agents Phase 2
18 Antitubercular Agents Phase 2
19 Cyclosporins Phase 2
20 Antineoplastic Agents, Immunological Phase 2
21 Immunologic Factors Phase 2
22 Antifungal Agents Phase 2
23 Anti-Bacterial Agents Phase 2
24 Anti-Infective Agents Phase 2
25 Antibiotics, Antitubercular Phase 2
26 Antirheumatic Agents Phase 2
27 Calcineurin Inhibitors Phase 2
28 Antineoplastic Agents, Alkylating Phase 2
29 Alkylating Agents Phase 2
30 Immunosuppressive Agents Phase 2
31 Tocopherols Phase 2
32 Antimetabolites, Antineoplastic Phase 2
33 Thioctic Acid Phase 2
34 Antimetabolites Phase 2
35 Vitamins Phase 2
36 Tocotrienols Phase 2
37 Antilymphocyte Serum Phase 2
38 N-monoacetylcystine Phase 2
39 Alpha-lipoic Acid Phase 2
40 polysaccharide-K

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
2 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis 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 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
4 A Natural History Study of Aspartylglucosaminuria Recruiting NCT03853876
5 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422

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 30 AGA

Anatomical Context for Aspartylglucosaminuria

MalaCards organs/tissues related to Aspartylglucosaminuria:

42
Bone, Skin, Eye, Brain, Bone Marrow, Liver, Testes

Publications for Aspartylglucosaminuria

Articles related to Aspartylglucosaminuria:

(show top 50) (show all 168)
# Title Authors Year
1
The T99K variant of glycosylasparaginase shows a new structural mechanism of the genetic disease aspartylglucosaminuria. ( 30901125 )
2019
2
Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria. ( 29247835 )
2018
3
Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria. ( 29993127 )
2018
4
Optical coherence tomography features in brothers with aspartylglucosaminuria. ( 30564628 )
2018
5
Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan. ( 28063748 )
2017
6
White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother. ( 28185224 )
2017
7
Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother. ( 28341936 )
2017
8
Crystal structure of a mutant glycosylasparaginase shedding light on aspartylglycosaminuria-causing mechanism as well as on hydrolysis of non-chitobiose substrate. ( 28457719 )
2017
9
Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria. ( 27549151 )
2016
10
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria. ( 27876883 )
2016
11
Aspartylglycosaminuria: a review. ( 27906067 )
2016
12
Brain MRI findings in aspartylglucosaminuria. ( 26026191 )
2015
13
A NOVEL ASPARTYLGLUCOSAMINURIA MUTATION IN A PATIENT WITH CO-EXISTENCE OF GAUCHER DISEASE. ( 26852520 )
2015
14
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. ( 23271757 )
2014
15
Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria. ( 25456816 )
2014
16
[A family with two children diagnosed with aspartylglucosaminuria-case report and literature review]. ( 25190167 )
2014
17
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice. ( 20607610 )
2010
18
Sleep-related hypermotor seizures in aspartylglucosaminuria: a case report. ( 19175389 )
2009
19
Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria. ( 18568562 )
2008
20
Structural basis of aspartylglucosaminuria. ( 18992224 )
2008
21
Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene. ( 17421020 )
2007
22
Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse. ( 16518877 )
2006
23
Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study. ( 16944277 )
2006
24
Reduction in head size in patients with aspartylglucosaminuria. ( 16218917 )
2005
25
Startle epilepsy complicating aspartylglucosaminuria. ( 15036433 )
2004
26
Dysmorphic facial features in aspartylglucosaminuria patients and carriers. ( 15127757 )
2004
27
Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors. ( 15316370 )
2004
28
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase. ( 15365992 )
2004
29
Bone marrow transplantation in young aspartylglucosaminuria mice: improved clearance of lysosomal storage in brain by using wild type as compared to heterozygote donors. ( 15489878 )
2004
30
Mutation analysis in patients with N-acetylglutamate synthase deficiency. ( 12754705 )
2003
31
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. ( 12594532 )
2003
32
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria. ( 12366426 )
2002
33
Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis. ( 11796409 )
2002
34
Progressive nature of aspartylglucosaminuria. ( 12022293 )
2002
35
Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients. ( 11174635 )
2001
36
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. ( 11309371 )
2001
37
Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland. ( 11360285 )
2001
38
Human leukocyte glycosylasparaginase: cell-to-cell transfer and properties in correction of aspartylglycosaminuria. ( 11418116 )
2001
39
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. ( 11149613 )
2000
40
Enzyme replacement therapy in a mouse model of aspartylglycosaminuria. ( 10657992 )
2000
41
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. ( 10226749 )
1999
42
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. ( 10353787 )
1999
43
Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development. ( 10444340 )
1999
44
Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation. ( 10480438 )
1999
45
Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study. ( 10706021 )
1999
46
Origin of Finnish mutations causing aspartylglucosaminuria. ( 10783529 )
1999
47
Excessive infantile growth and early pubertal growth spurt: typical features in patients with aspartylglycosaminuria. ( 10356147 )
1999
48
Aspartylglycosaminuria: biochemistry and molecular biology. ( 10571008 )
1999
49
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. ( 9425233 )
1998
50
Aspartylglucosaminuria in a Canadian family. ( 9627765 )
1998

Variations for Aspartylglucosaminuria

UniProtKB/Swiss-Prot genetic disease variations for Aspartylglucosaminuria:

76 (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

ClinVar genetic disease variations for Aspartylglucosaminuria:

6 (show top 50) (show all 236)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGA NM_000027.3(AGA): c.488G> C (p.Cys163Ser) single nucleotide variant Pathogenic rs121964904 GRCh37 Chromosome 4, 178359918: 178359918
2 AGA NM_000027.3(AGA): c.488G> C (p.Cys163Ser) single nucleotide variant Pathogenic rs121964904 GRCh38 Chromosome 4, 177438764: 177438764
3 AGA NM_000027.3(AGA): c.904G> A (p.Gly302Arg) single nucleotide variant Pathogenic rs121964905 GRCh37 Chromosome 4, 178354404: 178354404
4 AGA NM_000027.3(AGA): c.904G> A (p.Gly302Arg) single nucleotide variant Pathogenic rs121964905 GRCh38 Chromosome 4, 177433250: 177433250
5 AGA NM_000027.3(AGA): c.916T> C (p.Cys306Arg) single nucleotide variant Pathogenic rs121964906 GRCh37 Chromosome 4, 178354392: 178354392
6 AGA NM_000027.3(AGA): c.916T> C (p.Cys306Arg) single nucleotide variant Pathogenic rs121964906 GRCh38 Chromosome 4, 177433238: 177433238
7 AGA NM_000027.3(AGA): c.179G> A (p.Gly60Asp) single nucleotide variant Uncertain significance rs121964907 GRCh37 Chromosome 4, 178361529: 178361529
8 AGA NM_000027.3(AGA): c.179G> A (p.Gly60Asp) single nucleotide variant Uncertain significance rs121964907 GRCh38 Chromosome 4, 177440375: 177440375
9 AGA NM_000027.3(AGA): c.302C> T (p.Ala101Val) single nucleotide variant Likely pathogenic rs121964908 GRCh37 Chromosome 4, 178360822: 178360822
10 AGA NM_000027.3(AGA): c.302C> T (p.Ala101Val) single nucleotide variant Likely pathogenic rs121964908 GRCh38 Chromosome 4, 177439668: 177439668
11 AGA NM_000027.3(AGA): c.102_108delGCCCTTT (p.Trp34Terfs) deletion Pathogenic/Likely pathogenic rs386833417 GRCh37 Chromosome 4, 178363422: 178363428
12 AGA NM_000027.3(AGA): c.102_108delGCCCTTT (p.Trp34Terfs) deletion Pathogenic/Likely pathogenic rs386833417 GRCh38 Chromosome 4, 177442268: 177442274
13 AGA NM_000027.3(AGA): c.800dupT (p.Pro268Alafs) duplication Likely pathogenic rs386833436 GRCh37 Chromosome 4, 178355542: 178355542
14 AGA NM_000027.3(AGA): c.800dupT (p.Pro268Alafs) duplication Likely pathogenic rs386833436 GRCh38 Chromosome 4, 177434388: 177434388
15 AGA NM_000027.3(AGA): c.127_127+1insATGCGG (p.42_43insAspAla) insertion Pathogenic/Likely pathogenic rs386833418 GRCh37 Chromosome 4, 178363402: 178363403
16 AGA NM_000027.3(AGA): c.127_127+1insATGCGG (p.42_43insAspAla) insertion Pathogenic/Likely pathogenic rs386833418 GRCh38 Chromosome 4, 177442248: 177442249
17 AGA NM_000027.3(AGA): c.807_940del134 single nucleotide variant Likely pathogenic rs386833437 GRCh38 Chromosome 4, 177433213: 177433213
18 AGA NM_000027.3(AGA): c.807_940del134 single nucleotide variant Likely pathogenic rs386833437 GRCh37 Chromosome 4, 178354367: 178354367
19 AGA NM_000027.3(AGA): c.800delT (p.Leu267Argfs) deletion Pathogenic rs794728009 GRCh37 Chromosome 4, 178355542: 178355542
20 AGA NM_000027.3(AGA): c.800delT (p.Leu267Argfs) deletion Pathogenic rs794728009 GRCh38 Chromosome 4, 177434388: 177434388
21 AGA NM_000027.3(AGA): c.214T> C (p.Ser72Pro) single nucleotide variant Pathogenic rs121964909 GRCh37 Chromosome 4, 178361494: 178361494
22 AGA NM_000027.3(AGA): c.214T> C (p.Ser72Pro) single nucleotide variant Pathogenic rs121964909 GRCh38 Chromosome 4, 177440340: 177440340
23 NAGS NM_153006.2(NAGS): c.1025delG (p.Arg342Profs) deletion Pathogenic rs730880266 GRCh38 Chromosome 17, 44006638: 44006638
24 NAGS NM_153006.2(NAGS): c.1025delG (p.Arg342Profs) deletion Pathogenic rs730880266 GRCh37 Chromosome 17, 42084006: 42084006
25 NAGS NM_153006.2(NAGS): c.971G> A (p.Trp324Ter) single nucleotide variant Pathogenic rs104894604 GRCh37 Chromosome 17, 42083952: 42083952
26 NAGS NM_153006.2(NAGS): c.971G> A (p.Trp324Ter) single nucleotide variant Pathogenic rs104894604 GRCh38 Chromosome 17, 44006584: 44006584
27 NAGS NM_153006.2(NAGS): c.916-2A> T single nucleotide variant Pathogenic rs730880267 GRCh38 Chromosome 17, 44006527: 44006527
28 NAGS NM_153006.2(NAGS): c.916-2A> T single nucleotide variant Pathogenic rs730880267 GRCh37 Chromosome 17, 42083895: 42083895
29 NAGS NM_153006.2(NAGS): c.1307dupT (p.Thr439Hisfs) duplication Pathogenic rs730880303 GRCh38 Chromosome 17, 44007629: 44007629
30 NAGS NM_153006.2(NAGS): c.1307dupT (p.Thr439Hisfs) duplication Pathogenic rs730880303 GRCh37 Chromosome 17, 42084997: 42084997
31 NAGS NM_153006.2(NAGS): c.835G> A (p.Ala279Thr) single nucleotide variant Pathogenic rs121912591 GRCh37 Chromosome 17, 42083525: 42083525
32 NAGS NM_153006.2(NAGS): c.835G> A (p.Ala279Thr) single nucleotide variant Pathogenic rs121912591 GRCh38 Chromosome 17, 44006157: 44006157
33 NAGS NM_153006.2(NAGS): c.1289T> C (p.Leu430Pro) single nucleotide variant Pathogenic rs104894605 GRCh37 Chromosome 17, 42084979: 42084979
34 NAGS NM_153006.2(NAGS): c.1289T> C (p.Leu430Pro) single nucleotide variant Pathogenic rs104894605 GRCh38 Chromosome 17, 44007611: 44007611
35 NAGS NM_153006.2(NAGS): c.1450T> C (p.Trp484Arg) single nucleotide variant Pathogenic rs104894606 GRCh37 Chromosome 17, 42085140: 42085140
36 NAGS NM_153006.2(NAGS): c.1450T> C (p.Trp484Arg) single nucleotide variant Pathogenic rs104894606 GRCh38 Chromosome 17, 44007772: 44007772
37 NAGS NM_153006.2(NAGS): c.1299G> C (p.Glu433Asp) single nucleotide variant Pathogenic rs104894607 GRCh37 Chromosome 17, 42084989: 42084989
38 NAGS NM_153006.2(NAGS): c.1299G> C (p.Glu433Asp) single nucleotide variant Pathogenic rs104894607 GRCh38 Chromosome 17, 44007621: 44007621
39 AGA NM_000027.3(AGA): c.373_376delACAC (p.Thr125Phefs) deletion Pathogenic rs386833425 GRCh37 Chromosome 4, 178360748: 178360751
40 AGA NM_000027.3(AGA): c.373_376delACAC (p.Thr125Phefs) deletion Pathogenic rs386833425 GRCh38 Chromosome 4, 177439594: 177439597
41 AGA NM_000027.3(AGA): c.395-8A> G single nucleotide variant Likely pathogenic rs386833426 GRCh37 Chromosome 4, 178360019: 178360019
42 AGA NM_000027.3(AGA): c.336delT (p.Ile112Metfs) deletion Pathogenic rs386833422 GRCh38 Chromosome 4, 177439634: 177439634
43 AGA NM_000027.3(AGA): c.346C> T (p.Arg116Trp) single nucleotide variant Likely pathogenic rs386833423 GRCh37 Chromosome 4, 178360778: 178360778
44 AGA NM_000027.3(AGA): c.346C> T (p.Arg116Trp) single nucleotide variant Likely pathogenic rs386833423 GRCh38 Chromosome 4, 177439624: 177439624
45 AGA NM_000027.3(AGA): c.369_373delACACA (p.His124Thrfs) deletion Likely pathogenic rs386833424 GRCh37 Chromosome 4, 178360751: 178360755
46 AGA NM_000027.3(AGA): c.369_373delACACA (p.His124Thrfs) deletion Likely pathogenic rs386833424 GRCh38 Chromosome 4, 177439597: 177439601
47 AGA NM_000027.3(AGA): c.395-8A> G single nucleotide variant Likely pathogenic rs386833426 GRCh38 Chromosome 4, 177438865: 177438865
48 AGA NM_000027.3(AGA): c.192T> A (p.Cys64Ter) single nucleotide variant Likely pathogenic rs386833419 GRCh37 Chromosome 4, 178361516: 178361516
49 AGA NM_000027.3(AGA): c.192T> A (p.Cys64Ter) single nucleotide variant Likely pathogenic rs386833419 GRCh38 Chromosome 4, 177440362: 177440362
50 AGA NM_000027.3(AGA): c.200_201delAG (p.Glu67Alafs) deletion Pathogenic/Likely pathogenic rs386833420 GRCh37 Chromosome 4, 178361507: 178361508

Expression for Aspartylglucosaminuria

Search GEO for disease gene expression data for Aspartylglucosaminuria.

Pathways for Aspartylglucosaminuria

Pathways related to Aspartylglucosaminuria according to KEGG:

38
# Name Kegg Source Accession
1 Other glycan degradation hsa00511
2 Lysosome hsa04142

GO Terms for Aspartylglucosaminuria

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

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 8.96 GAA NAGLU
2 lysosome GO:0005764 8.92 AGA CLN5 GAA NAGLU

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

# Name GO ID Score Top Affiliating Genes
1 lysosome organization GO:0007040 9.16 GAA NAGLU
2 ethanol oxidation GO:0006069 8.96 ADH1B ADH1C
3 protein deglycosylation GO:0006517 8.62 AGA NGLY1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 8.96 GAA NAGLU
2 alcohol dehydrogenase activity, zinc-dependent GO:0004024 8.62 ADH1B ADH1C

Sources for Aspartylglucosaminuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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