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 54 12 50 25 56 71 29 13 42 14 69
Aspartylglycosaminuria 12 50 24 25 71 29
Glycosylasparaginase Deficiency 12 50 24 25 71
Aspartylglucosaminidase Deficiency 12 25 56 71
Aga Deficiency 50 25 71
Aspartylglucosamidase Deficiency 50 69
Agu 50 71
Aspartylglucosamidase Deficiency 25
Hyperammonemia, Type Iii 69
Aspartylglucosaminidase 13

Characteristics:

Orphanet epidemiological data:

56
aspartylglucosaminuria
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Childhood;

OMIM:

54
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 : 50 aspartylglycosaminuria is a very rare lysosomal storage disease that causes a progressive decline in mental functioning. infants with aspartylglycosaminuria appear healthy at birth with signs and symptoms beginning around the age of 2 or 3. major symptoms may include coarse facial features, spine and eye deformities, behavior problems, and intellectual disability.  symptoms result from a deficiency in an enzyme called aspartylglycosaminidase, which leads to an accumulation of a protein called glycoasparagine in the body tissues and  increased excretion of this protein in the urine. aspartylglycosaminuria is inherited in an autosomal recessive fashion and caused by mutations in the aga gene. it is commonly seen in individuals of finnish decent. last updated: 8/17/2011

MalaCards based summary : Aspartylglucosaminuria, also known as aspartylglycosaminuria, is related to fucosidosis and serine deficiency, and has symptoms including scoliosis, macroglossia and dyskinesia. An important gene associated with Aspartylglucosaminuria is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Glucose metabolism and Fatty acid metabolism. The drugs Celecoxib and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye.

UniProtKB/Swiss-Prot : 71 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.

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

OMIM : 54
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)

Wikipedia : 72 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:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
hypotonia
mental retardation
speech delay
spasticity
cerebral atrophy
more
Head And Neck- Nose:
anteverted nostrils
low nasal bridge

Skin Nails & Hair- Skin:
acne
angiokeratoma corporis diffusum

Hematology:
neutropenia
vacuolated lymphocytes

Abdomen- Gastroin testinal:
diarrhea

Head And Neck- Head:
microcephaly
brachycephaly

Skeletal:
delayed skeletal maturation
mild dysostosis multiplex

Cardiovascular- Heart:
mitral insufficiency

Genitourinary- External Genitalia Male:
macroorchidism

Voice:
hoarse voice

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

Head And Neck- Face:
coarse facies
broad face

Head And Neck- Mouth:
macroglossia
wide mouth
thick lips

Immunology:
recurrent infections

Respiratory- Lung:
recurrent respiratory infections

Abdomen- Liver:
hepatomegaly

Skeletal- Limbs:
joint laxity
pathologic fractures

Head And Neck- Eyes:
crystal-like lens opacity

Abdomen- External Features:
hernias

Skeletal- Skull:
thick calvaria
underdeveloped frontal sinuses

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


Clinical features from OMIM:

208400

Human phenotypes related to Aspartylglucosaminuria:

56 32 (show top 50) (show all 73)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
2 macroglossia 56 32 frequent (33%) Frequent (79-30%) HP:0000158
3 dyskinesia 56 32 hallmark (90%) Very frequent (99-80%) HP:0100660
4 recurrent respiratory infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0002205
5 umbilical hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001537
6 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
7 splenomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001744
8 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
9 coarse facial features 56 32 frequent (33%) Frequent (79-30%) HP:0000280
10 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
11 short nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0003196
12 pectus carinatum 56 32 frequent (33%) Frequent (79-30%) HP:0000768
13 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
14 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
15 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
16 arthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001369
17 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
18 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
19 pes planus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001763
20 microtia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008551
21 delayed skeletal maturation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002750
22 macroorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000053
23 aspartylglucosaminuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0012068
24 chronic otitis media 56 32 occasional (7.5%) Occasional (29-5%) HP:0000389
25 carious teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000670
26 delayed speech and language development 56 32 hallmark (90%) Very frequent (99-80%) HP:0000750
27 sleep disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0002360
28 gingival overgrowth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000212
29 large face 56 32 hallmark (90%) Very frequent (99-80%) HP:0100729
30 thickened calvaria 56 32 frequent (33%) Frequent (79-30%) HP:0002684
31 neurological speech impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002167
32 mandibular prognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000303
33 abnormality of the ulna 56 32 frequent (33%) Frequent (79-30%) HP:0002997
34 abnormal cortical bone morphology 56 32 frequent (33%) Frequent (79-30%) HP:0003103
35 abnormality of amino acid metabolism 56 32 hallmark (90%) Very frequent (99-80%) HP:0004337
36 beaking of vertebral bodies 56 32 Occasional (29-5%) HP:0004568
37 anterior beaking of lumbar vertebrae 56 32 frequent (33%) Frequent (79-30%) HP:0008430
38 vascular skin abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0011276
39 thick vermilion border 56 32 hallmark (90%) Very frequent (99-80%) HP:0012471
40 short stature 32 HP:0004322
41 acne 32 HP:0001061
42 neutropenia 32 HP:0001875
43 diarrhea 32 HP:0002014
44 wide mouth 32 HP:0000154
45 spasticity 32 HP:0001257
46 cerebral atrophy 32 HP:0002059
47 microcephaly 32 HP:0000252
48 depressed nasal bridge 32 HP:0005280
49 hernia 32 HP:0100790
50 dysostosis multiplex 32 HP:0000943

UMLS symptoms related to Aspartylglucosaminuria:


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

Drugs & Therapeutics for Aspartylglucosaminuria

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

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 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)
2 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
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:

id Genetic test Affiliating Genes
1 Aspartylglycosaminuria 29 24 AGA
2 Aspartylglucosaminuria 29

Anatomical Context for Aspartylglucosaminuria

MalaCards organs/tissues related to Aspartylglucosaminuria:

39
Bone, Skin, Eye, Bone Marrow, Brain, Liver, Kidney

Publications for Aspartylglucosaminuria

Articles related to Aspartylglucosaminuria:

(show top 50) (show all 90)
id Title Authors Year
1
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
2
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
3
Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria. ( 27549151 )
2016
4
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria. ( 27876883 )
2016
5
Brain MRI findings in aspartylglucosaminuria. ( 26026191 )
2015
6
A NOVEL ASPARTYLGLUCOSAMINURIA MUTATION IN A PATIENT WITH CO-EXISTENCE OF GAUCHER DISEASE. ( 26852520 )
2015
7
Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria. ( 25456816 )
2014
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
Sleep-related hypermotor seizures in aspartylglucosaminuria: a case report. ( 19175389 )
2009
10
Structural basis of aspartylglucosaminuria. ( 18992224 )
2008
11
Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria. ( 18568562 )
2008
12
Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse. ( 16518877 )
2006
13
Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study. ( 16944277 )
2006
14
Reduction in head size in patients with aspartylglucosaminuria. ( 16218917 )
2005
15
Dysmorphic facial features in aspartylglucosaminuria patients and carriers. ( 15127757 )
2004
16
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase. ( 15365992 )
2004
17
Startle epilepsy complicating aspartylglucosaminuria. ( 15036433 )
2004
18
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
19
Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors. ( 15316370 )
2004
20
Progressive nature of aspartylglucosaminuria. ( 12022293 )
2002
21
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria. ( 12366426 )
2002
22
Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis. ( 11796409 )
2002
23
Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients. ( 11174635 )
2001
24
Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland. ( 11360285 )
2001
25
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. ( 11309371 )
2001
26
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. ( 11149613 )
2000
27
Origin of Finnish mutations causing aspartylglucosaminuria. ( 10783529 )
1999
28
Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development. ( 10444340 )
1999
29
Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation. ( 10480438 )
1999
30
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. ( 10353787 )
1999
31
Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study. ( 10706021 )
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
Monitoring the CNS pathology in aspartylglucosaminuria mice. ( 9862638 )
1998
34
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse. ( 9930336 )
1998
35
Chronic arthritis in patients with aspartylglucosaminuria. ( 9632076 )
1998
36
Impaired oral health in patients with aspartylglucosaminuria. ( 9830648 )
1998
37
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. ( 9425233 )
1998
38
Aspartylglucosaminuria in a Canadian family. ( 9627765 )
1998
39
Characteristic dental arches and occlusion in patients with aspartylglucosaminuria. ( 9338856 )
1997
40
Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation. ( 9309520 )
1997
41
Bone-marrow transplantation in aspartylglucosaminuria. ( 9149703 )
1997
42
Aspartylglucosaminuria among Palestinian Arabs. ( 9427148 )
1997
43
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. ( 9137882 )
1997
44
DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices. ( 8787695 )
1996
45
Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay. ( 7813081 )
1995
46
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene. ( 7627186 )
1995
47
Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer. ( 7548272 )
1995
48
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. ( 8064811 )
1994
49
Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease. ( 8312372 )
1994
50
Expression of aspartylglucosaminidase in human tissues from normal individuals and aspartylglucosaminuria patients. ( 7685790 )
1993

Variations for Aspartylglucosaminuria

UniProtKB/Swiss-Prot genetic disease variations for Aspartylglucosaminuria:

71 (show all 12)
id 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 all 38)
id 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.904G> A (p.Gly302Arg) single nucleotide variant Pathogenic rs121964905 GRCh37 Chromosome 4, 178354404: 178354404
3 AGA NM_000027.3(AGA): c.916T> C (p.Cys306Arg) single nucleotide variant Pathogenic rs121964906 GRCh37 Chromosome 4, 178354392: 178354392
4 AGA NM_000027.3(AGA): c.179G> A (p.Gly60Asp) single nucleotide variant Pathogenic rs121964907 GRCh37 Chromosome 4, 178361529: 178361529
5 AGA NM_000027.3(AGA): c.302C> T (p.Ala101Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964908 GRCh37 Chromosome 4, 178360822: 178360822
6 AGA NM_000027.3(AGA): c.102_108delGCCCTTT (p.Trp34Terfs) deletion Pathogenic/Likely pathogenic rs386833417 GRCh37 Chromosome 4, 178363422: 178363428
7 AGA NM_000027.3(AGA): c.800dupT (p.Pro268Alafs) duplication Pathogenic/Likely pathogenic rs386833436 GRCh37 Chromosome 4, 178355542: 178355542
8 AGA NM_000027.3(AGA): c.127_127+1insATGCGG (p.42_43insAspAla) insertion Pathogenic/Likely pathogenic rs386833418 GRCh37 Chromosome 4, 178363402: 178363403
9 AGA NM_000027.3(AGA): c.807_940del134 single nucleotide variant Pathogenic/Likely pathogenic rs386833437 GRCh38 Chromosome 4, 177433213: 177433213
10 AGA NM_000027.3(AGA): c.800delT (p.Leu267Argfs) deletion Pathogenic rs794728009 GRCh37 Chromosome 4, 178355542: 178355542
11 AGA NM_000027.3(AGA): c.214T> C (p.Ser72Pro) single nucleotide variant Pathogenic rs121964909 GRCh37 Chromosome 4, 178361494: 178361494
12 AGA NM_000027.3(AGA): c.404T> C (p.Phe135Ser) single nucleotide variant Likely pathogenic rs386833427 GRCh38 Chromosome 4, 177438848: 177438848
13 AGA NM_000027.3(AGA): c.503G> A (p.Trp168Ter) single nucleotide variant Likely pathogenic rs386833430 GRCh38 Chromosome 4, 177438749: 177438749
14 AGA NM_000027.3(AGA): c.439T> C (p.Ser147Pro) single nucleotide variant Likely pathogenic rs386833428 GRCh37 Chromosome 4, 178359967: 178359967
15 AGA NM_000027.3(AGA): c.44T> G (p.Leu15Arg) single nucleotide variant Likely pathogenic rs386833429 GRCh38 Chromosome 4, 177442332: 177442332
16 AGA NM_000027.3(AGA): c.395-8A> G single nucleotide variant Likely pathogenic rs386833426 GRCh38 Chromosome 4, 177438865: 177438865
17 AGA NM_000027.3(AGA): c.192T> A (p.Cys64Ter) single nucleotide variant Likely pathogenic rs386833419 GRCh37 Chromosome 4, 178361516: 178361516
18 AGA NM_000027.3(AGA): c.200_201delAG (p.Glu67Alafs) deletion Pathogenic/Likely pathogenic rs386833420 GRCh37 Chromosome 4, 178361507: 178361508
19 AGA NM_000027.3(AGA): c.299G> A (p.Gly100Glu) single nucleotide variant Likely pathogenic rs386833421 GRCh37 Chromosome 4, 178360825: 178360825
20 AGA NM_000027.3(AGA): c.336delT (p.Ile112Metfs) deletion Likely pathogenic rs386833422 GRCh37 Chromosome 4, 178360788: 178360788
21 AGA NM_000027.3(AGA): c.346C> T (p.Arg116Trp) single nucleotide variant Likely pathogenic rs386833423 GRCh37 Chromosome 4, 178360778: 178360778
22 AGA NM_000027.3(AGA): c.369_373delACACA (p.His124Thrfs) deletion Likely pathogenic rs386833424 GRCh37 Chromosome 4, 178360751: 178360755
23 AGA NM_000027.3(AGA): c.373_376delACAC (p.Thr125Phefs) deletion Likely pathogenic rs386833425 GRCh37 Chromosome 4, 178360748: 178360751
24 AGA NM_000027.3(AGA): c.677G> A (p.Gly226Asp) single nucleotide variant Pathogenic/Likely pathogenic rs386833431 GRCh37 Chromosome 4, 178357451: 178357451
25 AGA NM_000027.3(AGA): c.754G> C (p.Gly252Arg) single nucleotide variant Likely pathogenic rs386833432 GRCh37 Chromosome 4, 178355588: 178355588
26 AGA NM_000027.3(AGA): c.755G> A (p.Gly252Glu) single nucleotide variant Likely pathogenic rs386833433 GRCh37 Chromosome 4, 178355587: 178355587
27 AGA NM_000027.3(AGA): c.770C> T (p.Thr257Ile) single nucleotide variant Likely pathogenic rs386833434 GRCh37 Chromosome 4, 178355572: 178355572
28 AGA NM_000027.3(AGA): c.788delT (p.Leu263Terfs) deletion Likely pathogenic rs386833435 GRCh37 Chromosome 4, 178355554: 178355554
29 AGA NM_000027.3(AGA): c.319C> T (p.Arg107Ter) single nucleotide variant Pathogenic rs765070743 GRCh37 Chromosome 4, 178360805: 178360805
30 AGA NM_000027.3(AGA): c.698+1G> T single nucleotide variant Likely pathogenic rs1057517175 GRCh38 Chromosome 4, 177436275: 177436275
31 AGA NM_000027.3(AGA): c.537C> A (p.Cys179Ter) single nucleotide variant Likely pathogenic rs748171793 GRCh37 Chromosome 4, 178358644: 178358644
32 AGA NM_000027.3(AGA): c.490C> T (p.Gln164Ter) single nucleotide variant Likely pathogenic rs1057517329 GRCh38 Chromosome 4, 177438762: 177438762
33 AGA NM_000027.3(AGA): c.473G> A (p.Trp158Ter) single nucleotide variant Likely pathogenic rs745976989 GRCh37 Chromosome 4, 178359933: 178359933
34 AGA NM_000027.3(AGA): c.333delT (p.Ile112Leufs) deletion Likely pathogenic rs1057517223 GRCh38 Chromosome 4, 177439637: 177439637
35 AGA NM_000027.3(AGA): c.127+1G> A single nucleotide variant Likely pathogenic rs1057516565 GRCh37 Chromosome 4, 178363402: 178363402
36 AGA NM_000027.3(AGA): c.70delT (p.Ser24Profs) deletion Likely pathogenic rs1057517239 GRCh38 Chromosome 4, 177442306: 177442306
37 AGA NM_000027.3(AGA): c.28delC (p.Leu10Phefs) deletion Likely pathogenic rs1057517062 GRCh38 Chromosome 4, 177442348: 177442348
38 AGA NM_000027.3(AGA): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1054938291 GRCh37 Chromosome 4, 178363529: 178363529

Expression for Aspartylglucosaminuria

Search GEO for disease gene expression data for Aspartylglucosaminuria.

Pathways for Aspartylglucosaminuria

GO Terms for Aspartylglucosaminuria

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

id Name GO ID Score Top Affiliating Genes
1 azurophil granule lumen GO:0035578 9.16 AGA CTSA
2 lysosomal lumen GO:0043202 8.96 CTSA GAA
3 lysosome GO:0005764 8.92 AGA CTSA GAA NAGA

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

id 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
51 NINDS
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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