MCID: ASP002
MIFTS: 56

Aspartylglucosaminuria

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

Aliases & Classifications for Aspartylglucosaminuria

MalaCards integrated aliases for Aspartylglucosaminuria:

Name: Aspartylglucosaminuria 57 12 53 25 59 75 37 29 13 6 44 15 40 73
Aspartylglycosaminuria 57 12 76 53 25 75
Aspartylglucosaminidase Deficiency 57 12 25 59 75
Glycosylasparaginase Deficiency 57 12 53 25 75
Aga Deficiency 57 53 25 75
Agu 57 53 75
Aspartylglucosamidase Deficiency 53 73
Aspartylglucosamidase Deficiency 25
Hyperammonemia, Type Iii 73
Aspartylglucosaminidase 13
Glycoasparaginase 57

Characteristics:

Orphanet epidemiological data:

59
aspartylglucosaminuria
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Childhood;

OMIM:

57
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:

32
aspartylglucosaminuria:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aspartylglucosaminuria

NIH Rare Diseases : 53 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 angiokeratoma, and has symptoms including diarrhea, hoarseness and muscle spasticity. An important gene associated with Aspartylglucosaminuria is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Other glycan degradation and Lysosome. The drugs alemtuzumab and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye, and related phenotypes are hypertelorism and intellectual disability

Genetics Home Reference : 25 Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.

OMIM : 57 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 : 75 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 : 76 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

Symptoms via clinical synopsis from OMIM:

57
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 Nose:
anteverted nostrils
low nasal bridge

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 Face:
coarse facies
broad face

Head And Neck Eyes:
crystal-like lens opacity

Skeletal Skull:
thick calvaria
underdeveloped frontal sinuses


Clinical features from OMIM:

208400

Human phenotypes related to Aspartylglucosaminuria:

59 32 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
5 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
6 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
7 large face 59 32 hallmark (90%) Very frequent (99-80%) HP:0100729
8 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
9 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
10 gingival overgrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000212
11 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
12 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
13 chronic otitis media 59 32 occasional (7.5%) Occasional (29-5%) HP:0000389
14 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
15 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
16 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
17 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
18 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
19 macroorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000053
20 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
21 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
22 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
23 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
24 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
25 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
26 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
27 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
28 thickened calvaria 59 32 frequent (33%) Frequent (79-30%) HP:0002684
29 abnormality of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0002997
30 abnormal cortical bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0003103
31 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
32 abnormality of amino acid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004337
33 beaking of vertebral bodies 59 32 Occasional (29-5%) HP:0004568
34 anterior beaking of lumbar vertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0008430
35 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
36 vascular skin abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0011276
37 aspartylglucosaminuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0012068
38 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
39 dyskinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100660
40 muscular hypotonia 32 HP:0001252
41 spasticity 32 HP:0001257
42 developmental regression 32 HP:0002376
43 kyphosis 32 HP:0002808
44 cataract 32 HP:0000518
45 behavioral abnormality 59 Occasional (29-5%)
46 depressed nasal bridge 32 HP:0005280
47 abnormality of the dentition 59 Frequent (79-30%)
48 abnormal facial shape 59 Very frequent (99-80%)
49 abnormal vertebral morphology 59 Occasional (29-5%)
50 microcephaly 32 HP:0000252

UMLS symptoms related to Aspartylglucosaminuria:


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

Drugs & Therapeutics for Aspartylglucosaminuria

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

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
5
Mesna Approved, Investigational Phase 2 3375-50-6 598
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
8
Mycophenolic acid Approved Phase 2 24280-93-1 446541
9
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
10
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
11
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
12
rituximab Approved Phase 2 174722-31-7 10201696
13
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
14 tannic acid Approved, Nutraceutical Phase 2
15
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
16
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
17 Alkylating Agents Phase 2
18 Anti-Bacterial Agents Phase 2
19 Antibiotics, Antitubercular Phase 2
20 Antifungal Agents Phase 2
21 Anti-Infective Agents Phase 2
22 Antineoplastic Agents, Alkylating Phase 2
23 Antirheumatic Agents Phase 2
24 Antitubercular Agents Phase 2
25 Calcineurin Inhibitors Phase 2
26 Cyclosporins Phase 2
27 Dermatologic Agents Phase 2
28 Immunosuppressive Agents Phase 2
29 Antilymphocyte Serum Phase 2
30 Antimetabolites Phase 2
31 Antimetabolites, Antineoplastic Phase 2
32 N-monoacetylcystine Phase 2
33 Thioctic Acid Phase 2
34 Tocopherols Phase 2
35 Tocotrienols Phase 2
36 Vitamins Phase 2
37 Alpha-lipoic Acid Nutraceutical Phase 2
38 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
39 Krestin

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 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 29 AGA

Anatomical Context for Aspartylglucosaminuria

MalaCards organs/tissues related to Aspartylglucosaminuria:

41
Bone, Skin, Eye, Bone Marrow, Brain, Liver, Kidney

Publications for Aspartylglucosaminuria

Articles related to Aspartylglucosaminuria:

(show top 50) (show all 93)
# Title Authors Year
1
Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria. ( 29247835 )
2018
2
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
3
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
4
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria. ( 27876883 )
2016
5
Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria. ( 27549151 )
2016
6
Brain MRI findings in aspartylglucosaminuria. ( 26026191 )
2015
7
A NOVEL ASPARTYLGLUCOSAMINURIA MUTATION IN A PATIENT WITH CO-EXISTENCE OF GAUCHER DISEASE. ( 26852520 )
2015
8
Aspartylglucosaminuria: unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. ( 23271757 )
2014
9
Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria. ( 25456816 )
2014
10
[A family with two children diagnosed with aspartylglucosaminuria-case report and literature review]. ( 25190167 )
2014
11
Sleep-related hypermotor seizures in aspartylglucosaminuria: a case report. ( 19175389 )
2009
12
Structural basis of aspartylglucosaminuria. ( 18992224 )
2008
13
Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria. ( 18568562 )
2008
14
Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study. ( 16944277 )
2006
15
Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse. ( 16518877 )
2006
16
Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy. ( 15342551 )
2005
17
Reduction in head size in patients with aspartylglucosaminuria. ( 16218917 )
2005
18
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase. ( 15365992 )
2004
19
Dysmorphic facial features in aspartylglucosaminuria patients and carriers. ( 15127757 )
2004
20
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
21
Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors. ( 15316370 )
2004
22
Startle epilepsy complicating aspartylglucosaminuria. ( 15036433 )
2004
23
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria. ( 12366426 )
2002
24
Progressive nature of aspartylglucosaminuria. ( 12022293 )
2002
25
Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis. ( 11796409 )
2002
26
Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland. ( 11360285 )
2001
27
Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients. ( 11174635 )
2001
28
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. ( 11309371 )
2001
29
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. ( 11149613 )
2000
30
Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development. ( 10444340 )
1999
31
Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation. ( 10480438 )
1999
32
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
33
Origin of Finnish mutations causing aspartylglucosaminuria. ( 10783529 )
1999
34
Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study. ( 10706021 )
1999
35
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. ( 10353787 )
1999
36
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. ( 9425233 )
1998
37
Aspartylglucosaminuria in a Canadian family. ( 9627765 )
1998
38
Impaired oral health in patients with aspartylglucosaminuria. ( 9830648 )
1998
39
Monitoring the CNS pathology in aspartylglucosaminuria mice. ( 9862638 )
1998
40
Chronic arthritis in patients with aspartylglucosaminuria. ( 9632076 )
1998
41
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse. ( 9930336 )
1998
42
Bone-marrow transplantation in aspartylglucosaminuria. ( 9149703 )
1997
43
Aspartylglucosaminuria among Palestinian Arabs. ( 9427148 )
1997
44
Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation. ( 9309520 )
1997
45
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. ( 9137882 )
1997
46
Characteristic dental arches and occlusion in patients with aspartylglucosaminuria. ( 9338856 )
1997
47
DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices. ( 8787695 )
1996
48
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene. ( 7627186 )
1995
49
Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay. ( 7813081 )
1995
50
Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer. ( 7548272 )
1995

Variations for Aspartylglucosaminuria

UniProtKB/Swiss-Prot genetic disease variations for Aspartylglucosaminuria:

75 (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 142)
# 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 Pathogenic rs121964907 GRCh37 Chromosome 4, 178361529: 178361529
8 AGA NM_000027.3(AGA): c.179G> A (p.Gly60Asp) single nucleotide variant Pathogenic 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 AGA NM_000027.3(AGA): c.192T> A (p.Cys64Ter) single nucleotide variant Likely pathogenic rs386833419 GRCh37 Chromosome 4, 178361516: 178361516
24 AGA NM_000027.3(AGA): c.192T> A (p.Cys64Ter) single nucleotide variant Likely pathogenic rs386833419 GRCh38 Chromosome 4, 177440362: 177440362
25 AGA NM_000027.3(AGA): c.200_201delAG (p.Glu67Alafs) deletion Pathogenic/Likely pathogenic rs386833420 GRCh37 Chromosome 4, 178361507: 178361508
26 AGA NM_000027.3(AGA): c.200_201delAG (p.Glu67Alafs) deletion Pathogenic/Likely pathogenic rs386833420 GRCh38 Chromosome 4, 177440353: 177440354
27 AGA NM_000027.3(AGA): c.299G> A (p.Gly100Glu) single nucleotide variant Likely pathogenic rs386833421 GRCh37 Chromosome 4, 178360825: 178360825
28 AGA NM_000027.3(AGA): c.299G> A (p.Gly100Glu) single nucleotide variant Likely pathogenic rs386833421 GRCh38 Chromosome 4, 177439671: 177439671
29 AGA NM_000027.3(AGA): c.336delT (p.Ile112Metfs) deletion Pathogenic rs386833422 GRCh37 Chromosome 4, 178360788: 178360788
30 AGA NM_000027.3(AGA): c.336delT (p.Ile112Metfs) deletion Pathogenic rs386833422 GRCh38 Chromosome 4, 177439634: 177439634
31 AGA NM_000027.3(AGA): c.346C> T (p.Arg116Trp) single nucleotide variant Likely pathogenic rs386833423 GRCh37 Chromosome 4, 178360778: 178360778
32 AGA NM_000027.3(AGA): c.346C> T (p.Arg116Trp) single nucleotide variant Likely pathogenic rs386833423 GRCh38 Chromosome 4, 177439624: 177439624
33 AGA NM_000027.3(AGA): c.369_373delACACA (p.His124Thrfs) deletion Likely pathogenic rs386833424 GRCh37 Chromosome 4, 178360751: 178360755
34 AGA NM_000027.3(AGA): c.369_373delACACA (p.His124Thrfs) deletion Likely pathogenic rs386833424 GRCh38 Chromosome 4, 177439597: 177439601
35 AGA NM_000027.3(AGA): c.373_376delACAC (p.Thr125Phefs) deletion Likely pathogenic rs386833425 GRCh37 Chromosome 4, 178360748: 178360751
36 AGA NM_000027.3(AGA): c.373_376delACAC (p.Thr125Phefs) deletion Likely pathogenic rs386833425 GRCh38 Chromosome 4, 177439594: 177439597
37 AGA NM_000027.3(AGA): c.395-8A> G single nucleotide variant Likely pathogenic rs386833426 GRCh37 Chromosome 4, 178360019: 178360019
38 AGA NM_000027.3(AGA): c.395-8A> G single nucleotide variant Likely pathogenic rs386833426 GRCh38 Chromosome 4, 177438865: 177438865
39 AGA NM_000027.3(AGA): c.404T> C (p.Phe135Ser) single nucleotide variant Likely pathogenic rs386833427 GRCh37 Chromosome 4, 178360002: 178360002
40 AGA NM_000027.3(AGA): c.404T> C (p.Phe135Ser) single nucleotide variant Likely pathogenic rs386833427 GRCh38 Chromosome 4, 177438848: 177438848
41 AGA NM_000027.3(AGA): c.439T> C (p.Ser147Pro) single nucleotide variant Likely pathogenic rs386833428 GRCh37 Chromosome 4, 178359967: 178359967
42 AGA NM_000027.3(AGA): c.439T> C (p.Ser147Pro) single nucleotide variant Likely pathogenic rs386833428 GRCh38 Chromosome 4, 177438813: 177438813
43 AGA NM_000027.3(AGA): c.44T> G (p.Leu15Arg) single nucleotide variant Likely pathogenic rs386833429 GRCh37 Chromosome 4, 178363486: 178363486
44 AGA NM_000027.3(AGA): c.44T> G (p.Leu15Arg) single nucleotide variant Likely pathogenic rs386833429 GRCh38 Chromosome 4, 177442332: 177442332
45 AGA NM_000027.3(AGA): c.503G> A (p.Trp168Ter) single nucleotide variant Likely pathogenic rs386833430 GRCh37 Chromosome 4, 178359903: 178359903
46 AGA NM_000027.3(AGA): c.503G> A (p.Trp168Ter) single nucleotide variant Likely pathogenic rs386833430 GRCh38 Chromosome 4, 177438749: 177438749
47 AGA NM_000027.3(AGA): c.677G> A (p.Gly226Asp) single nucleotide variant Pathogenic rs386833431 GRCh37 Chromosome 4, 178357451: 178357451
48 AGA NM_000027.3(AGA): c.677G> A (p.Gly226Asp) single nucleotide variant Pathogenic rs386833431 GRCh38 Chromosome 4, 177436297: 177436297
49 AGA NM_000027.3(AGA): c.754G> C (p.Gly252Arg) single nucleotide variant Likely pathogenic rs386833432 GRCh37 Chromosome 4, 178355588: 178355588
50 AGA NM_000027.3(AGA): c.754G> C (p.Gly252Arg) single nucleotide variant Likely pathogenic rs386833432 GRCh38 Chromosome 4, 177434434: 177434434

Expression for Aspartylglucosaminuria

Search GEO for disease gene expression data for Aspartylglucosaminuria.

Pathways for Aspartylglucosaminuria

Pathways related to Aspartylglucosaminuria according to KEGG:

37
# 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 9.16 CTSA GAA
2 azurophil granule lumen GO:0035578 8.96 AGA CTSA
3 lysosome GO:0005764 8.92 AGA CTSA GAA NAGA

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.13 AGA CTSA GAA
2 ethanol oxidation GO:0006069 8.62 ADH1B ADH1C

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.56 AGA CTSA GAA NAGA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.16 GAA NAGA
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.96 GAA NAGA
4 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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