AGU
MCID: ASP002
MIFTS: 55

Aspartylglucosaminuria (AGU) malady

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

Aliases & Classifications for Aspartylglucosaminuria

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Aspartylglucosaminuria:

Name: Aspartylglucosaminuria 52 11 48 25 54 70 27 12 39 13 68
Aspartylglycosaminuria 11 48 24 25 70 27
Glycosylasparaginase Deficiency 11 48 24 25 70
Aspartylglucosaminidase Deficiency 11 25 54 70
Aga Deficiency 48 25 70
 
Aspartylglucosamidase Deficiency 48 68
Agu 48 70
Aspartylglucosamidase Deficiency 25
Hyperammonemia, Type Iii 68
Aspartylglucosaminidase 12

Characteristics:

Orphanet epidemiological data:

54
aspartylglucosaminuria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Childhood

HPO:

64
aspartylglucosaminuria:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 208400
Disease Ontology11 DOID:0050461
ICD1030 E77.1
MeSH39 D054880
NCIt45 C61273
SNOMED-CT62 54954004
Orphanet54 ORPHA93
ICD10 via Orphanet31 E77.1
UMLS via Orphanet69 C0268225, C2931840
MESH via Orphanet40 C538402, D054880

Summaries for Aspartylglucosaminuria

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NIH Rare Diseases:48 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 mannosidosis and fucosidosis, and has symptoms including diarrhea, diarrhea and hoarseness. An important gene associated with Aspartylglucosaminuria is AGA (Aspartylglucosaminidase), and among its related pathways are Fatty acid metabolism and Tyrosine metabolism. Affiliated tissues include bone, skin and eye.

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

OMIM:52 Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous... (208400) more...

UniProtKB/Swiss-Prot:70 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:71 Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental... more...

Related Diseases for Aspartylglucosaminuria

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Graphical network of the top 20 diseases related to Aspartylglucosaminuria:



Diseases related to aspartylglucosaminuria

Symptoms & Phenotypes for Aspartylglucosaminuria

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Symptoms by clinical synopsis from OMIM:

208400

Clinical features from OMIM:

208400

Human phenotypes related to Aspartylglucosaminuria:

 54 64 (show all 73)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia64 54 Occasional (29-5%) HP:0000023
2 macroorchidism64 54 Frequent (79-30%) HP:0000053
3 macroglossia64 54 Frequent (79-30%) HP:0000158
4 abnormality of the teeth54 Frequent (79-30%)
5 gingival overgrowth64 54 Very frequent (99-80%) HP:0000212
6 coarse facial features64 54 Frequent (79-30%) HP:0000280
7 mandibular prognathia64 54 Very frequent (99-80%) HP:0000303
8 hypertelorism64 54 Very frequent (99-80%) HP:0000316
9 chronic otitis media64 54 Occasional (29-5%) HP:0000389
10 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
11 carious teeth64 54 Frequent (79-30%) HP:0000670
12 behavioral abnormality54 Occasional (29-5%)
13 delayed speech and language development64 54 Very frequent (99-80%) HP:0000750
14 pectus carinatum64 54 Frequent (79-30%) HP:0000768
15 intellectual disability64 54 Very frequent (99-80%) HP:0001249
16 seizures64 54 Occasional (29-5%) HP:0001250
17 arthritis64 54 Occasional (29-5%) HP:0001369
18 joint stiffness64 54 Occasional (29-5%) HP:0001387
19 umbilical hernia64 54 Very frequent (99-80%) HP:0001537
20 splenomegaly64 54 Occasional (29-5%) HP:0001744
21 pes planus64 54 Occasional (29-5%) HP:0001763
22 abnormal facial shape54 Very frequent (99-80%)
23 malabsorption64 54 Occasional (29-5%) HP:0002024
24 neurological speech impairment64 54 Very frequent (99-80%) HP:0002167
25 recurrent respiratory infections64 54 Occasional (29-5%) HP:0002205
26 hepatomegaly64 54 Occasional (29-5%) HP:0002240
27 sleep disturbance64 54 Occasional (29-5%) HP:0002360
28 scoliosis64 54 Very frequent (99-80%) HP:0002650
29 thickened calvaria64 54 Frequent (79-30%) HP:0002684
30 delayed skeletal maturation64 54 Occasional (29-5%) HP:0002750
31 abnormality of the ulna64 54 Frequent (79-30%) HP:0002997
32 abnormal cortical bone morphology64 54 Frequent (79-30%) HP:0003103
33 short nose64 54 Very frequent (99-80%) HP:0003196
34 abnormality of the vertebrae54 Occasional (29-5%)
35 abnormality of amino acid metabolism64 54 Very frequent (99-80%) HP:0004337
36 beaking of vertebral bodies64 54 Occasional (29-5%) HP:0004568
37 anterior beaking of lumbar vertebrae64 54 Frequent (79-30%) HP:0008430
38 microtia64 54 Very frequent (99-80%) HP:0008551
39 vascular skin abnormality64 54 Occasional (29-5%) HP:0011276
40 aspartylglucosaminuria64 54 Very frequent (99-80%) HP:0012068
41 thick vermilion border64 54 Very frequent (99-80%) HP:0012471
42 dyskinesia64 54 Very frequent (99-80%) HP:0100660
43 large face64 54 Very frequent (99-80%) HP:0100729
44 wide mouth64 HP:0000154
45 thick lower lip vermilion64 HP:0000179
46 brachycephaly64 HP:0000248
47 microcephaly64 HP:0000252
48 broad face64 HP:0000283
49 anteverted nares64 HP:0000463
50 cataract64 HP:0000518
51 platyspondyly64 HP:0000926
52 dysostosis multiplex64 HP:0000943
53 acne64 HP:0001061
54 angiokeratoma corporis diffusum64 HP:0001071
55 muscular hypotonia64 HP:0001252
56 spasticity64 HP:0001257
57 joint laxity64 HP:0001388
58 hoarse voice64 HP:0001609
59 mitral regurgitation64 HP:0001653
60 neutropenia64 HP:0001875
61 vacuolated lymphocytes64 HP:0001922
62 abnormality of metabolism/homeostasis64 HP:0001939
63 diarrhea64 HP:0002014
64 cerebral atrophy64 HP:0002059
65 developmental regression64 HP:0002376
66 hypoplastic frontal sinuses64 HP:0002738
67 pathologic fracture64 HP:0002756
68 kyphosis64 HP:0002808
69 spondylolisthesis64 HP:0003302
70 spondylolysis64 HP:0003304
71 short stature64 HP:0004322
72 depressed nasal bridge64 HP:0005280
73 hernia64 HP:0100790

UMLS symptoms related to Aspartylglucosaminuria:


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

Drugs & Therapeutics for Aspartylglucosaminuria

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

(show all 38)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Celecoxibapproved, investigationalPhase 2444169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
2
rituximabapprovedPhase 21692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
3
FludarabineapprovedPhase 2115421679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
4
Busulfanapproved, investigationalPhase 254555-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
5
alemtuzumabapproved, investigationalPhase 2310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
6
ThiotepaapprovedPhase 222652-24-45453
Synonyms:
 
Thioplex
7
Acetylcysteineapproved, investigationalPhase 2330616-91-112035
Synonyms:
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
(R)-mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
8
Mycophenolate mofetilapproved, investigationalPhase 2952128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
9
BenzocaineapprovedPhase 220161994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
10
Miconazoleapproved, investigational, vet_approvedPhase 2370622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
11
MesnaapprovedPhase 22633375-50-6598
Synonyms:
2-Mercaptoethane
2-Mercaptoethanesulfonate
2-Mercaptoethanesulfonic acid
2-mercaptoethanesulfonic acid
2-mercaptoethanesulphonic acid
2-mercaptoethylsulfonate
2-sulfanylethylsulfonate
 
CoM
Coenzima M
Coenzym M
Coenzyme M
HS-CoM
reduced CoM
reduced coenzyme M
β-mercaptoethanesulfonic acid
12
Cyclosporineapproved, investigational, vet_approvedPhase 292279217-60-0, 59865-13-35284373, 6435893
Synonyms:
1c5f
1cyn
30024_FLUKA
30024_SIGMA
59865-13-3
79217-60-0
AC1L1EQW
AC1NQXJE
AC1NR4C4
AC1NUQK3
AC1NUZNC
AC1O5KOG
AC1Q2UDG
Ambap59865-13-3
Ambotz59865-13-3
Antibiotic S 7481F1
BMT-ABA-SAR-MLE-VAL-MLE-ALA-ALA-MLE-MLE-MVA
BMT-ABA-SAR-MLE-VAL-MLE-ALA-DAL-MLE-MLE-MVA
BPBio1_000496
BRD-A64290322-001-01-6
BRD-A69815203-001-04-3
BRD-K13533483-001-03-0
BSPBio_000450
BSPBio_001596
BSPBio_003186
C 3662
C05086
C1832_SIGMA
C3662_SIGMA
C62H111N11O12
CB-01-09 MMX
CHEBI:106343
CHEBI:328305
CHEBI:4031
CHEMBL160
CHEMBL386389
CHEMBL532318
CID2909
CID5280754
CID5284373
CID5458585
CID5497195
CID6435893
CSA
CYCLOSPORIN A (SEE ALSO TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A))
CYCLOSPORIN A, USP
Ciclosporin
Ciclosporin (JP15)
Ciclosporina
Ciclosporine
Ciclosporinum
Cipol N
Cipol-N
Consupren
Consupren S
CsA
CsA & IFN.alpha.
CyA
Cyclokat
Cyclosporin
Cyclosporin A
Cyclosporin A & IFN.alpha.
Cyclosporin A Implant
Cyclosporin A, Tolypocladium inflatum
Cyclosporine (USP)
Cyclosporine A
Cyclosporine [USAN]
D00184
DE-076
DivK1c_000871
EU-0100242
Equoral
GNF-Pf-2808
Gengraf
Gengraf (TN)
HMS1569G12
HMS1791P18
HMS1921L20
HMS1989P18
HMS2089A09
HMS2092F06
HMS502L13
Helv Chim Acta 60: 1568 (1977)
 
I06-0379
I06-0966
IDI1_000871
KBio1_000871
KBio2_000780
KBio2_003348
KBio2_005916
KBio3_002686
KBioGR_001898
KBioSS_000780
LMPK14000003
LS-257
LS-58836
Lopac0_000242
MLS000028376
MLS001333756
MLS002153454
MLS002207033
Mitogard
Modusik-A
MolPort-000-760-988
MolPort-005-934-008
MolPort-006-705-994
NCGC00093704-01
NCGC00093704-02
NCGC00093704-03
NCGC00093704-04
NCGC00093704-05
NCGC00093704-06
NCGC00093704-07
NCGC00093704-08
NCGC00164258-01
NCGC00164258-02
NINDS_000871
NSC290193
Neoplanta
Neoral
Neoral (TN)
NeuroSTAT
Nova-22007
OL 27-400
OL-27400
OLO-400
Papilock
Prestwick2_000435
Prestwick3_000435
Prestwick_731
Pulminiq
Ramihyphin A
Restasis
Restasis (TN)
S-Neoral
S1514_Selleck
SDZ-OXL 400
SMR000058578
SPBio_001467
SPECTRUM1502202
ST-603
Sandimmun
Sandimmun Neoral
Sandimmune
Sandimmune (TN)
Sandimmune, Gengraf, Restasis, Atopica, Sangcya, Cyclosporine
Sang-2000
Sang-35
SangCyA
Sangcya
Sigmasporin
Sigmasporin Microoral
Spectrum2_001484
Spectrum3_001593
Spectrum4_001279
Spectrum5_001628
Spectrum_000300
TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A)
Vekacia
Zyclorin
cyclophorine
cyclosporin A
cyclosporine
from Tolypocladium inflatum (Trichoderma polysporin)
nchembio.184-comp6
nchembio.301-comp5
nchembio.342-comp1
13
Cyclophosphamideapproved, investigationalPhase 2293550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
14
Mycophenolic acidapprovedPhase 295224280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
 
Melbex
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolsäure
Myfortic
15
Vitamin Eapproved, nutraceutical, vet_approvedPhase 241459-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
16tannic acidapproved, NutraceuticalPhase 22016
17Thioctic AcidPhase 2118
18Alkylating AgentsPhase 24827
19Antilymphocyte SerumPhase 2408
20Antimetabolites, AntineoplasticPhase 27361
21N-monoacetylcystinePhase 2330
22VitaminsPhase 25282
23Immunosuppressive AgentsPhase 213086
24TocopherolsPhase 2414
25Antineoplastic Agents, AlkylatingPhase 24603
26TocotrienolsPhase 2410
27AntimetabolitesPhase 212054
28Dermatologic AgentsPhase 25806
29Antibiotics, AntitubercularPhase 27180
30Anti-Bacterial AgentsPhase 211226
31Antifungal AgentsPhase 23696
32Anti-Infective AgentsPhase 222062
33Antirheumatic AgentsPhase 210956
34Calcineurin InhibitorsPhase 21622
35TocotrienolNutraceuticalPhase 2410
36TocopherolNutraceuticalPhase 2414
37Alpha-lipoic AcidNutraceuticalPhase 2118
38Krestin210

Interventional clinical trials:

idNameStatusNCT IDPhase
1MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisRecruitingNCT02171104Phase 2
2Allogeneic Bone Marrow Transplant for Inherited Metabolic DisordersActive, not recruitingNCT01043640Phase 2
3Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of MetabolismTerminatedNCT00668564Phase 2
4Longitudinal Studies of the GlycoproteinosesUnknown statusNCT01891422

Search NIH Clinical Center for Aspartylglucosaminuria


Cochrane evidence based reviews: aspartylglucosaminuria

Genetic Tests for Aspartylglucosaminuria

About this section

Genetic tests related to Aspartylglucosaminuria:

id Genetic test Affiliating Genes
1 Aspartylglycosaminuria27 24 AGA
2 Aspartylglucosaminuria27

Anatomical Context for Aspartylglucosaminuria

About this section

MalaCards organs/tissues related to Aspartylglucosaminuria:

36
Bone, Skin, Eye, Brain, Bone marrow, Liver, Kidney

Publications for Aspartylglucosaminuria

About this section

Articles related to Aspartylglucosaminuria:

(show top 50)    (show all 91)
idTitleAuthorsYear
1
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
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
Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria. (27549151)
2016
5
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria. (27876883)
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
Sleep-related hypermotor seizures in aspartylglucosaminuria: a case report. (19175389)
2009
11
Structural basis of aspartylglucosaminuria. (18992224)
2008
12
Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria. (18568562)
2008
13
Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse. (16518877)
2006
14
Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study. (16944277)
2006
15
Reduction in head size in patients with aspartylglucosaminuria. (16218917)
2005
16
Dysmorphic facial features in aspartylglucosaminuria patients and carriers. (15127757)
2004
17
Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors. (15316370)
2004
18
Startle epilepsy complicating aspartylglucosaminuria. (15036433)
2004
19
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
20
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase. (15365992)
2004
21
Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis. (11796409)
2002
22
Progressive nature of aspartylglucosaminuria. (12022293)
2002
23
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria. (12366426)
2002
24
Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients. (11174635)
2001
25
Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland. (11360285)
2001
26
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. (11309371)
2001
27
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. (11149613)
2000
28
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. (10353787)
1999
29
Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study. (10706021)
1999
30
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
31
Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation. (10480438)
1999
32
Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development. (10444340)
1999
33
Origin of Finnish mutations causing aspartylglucosaminuria. (10783529)
1999
34
Aspartylglucosaminuria in a Canadian family. (9627765)
1998
35
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. (9425233)
1998
36
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse. (9930336)
1998
37
Chronic arthritis in patients with aspartylglucosaminuria. (9632076)
1998
38
Impaired oral health in patients with aspartylglucosaminuria. (9830648)
1998
39
Monitoring the CNS pathology in aspartylglucosaminuria mice. (9862638)
1998
40
Characteristic dental arches and occlusion in patients with aspartylglucosaminuria. (9338856)
1997
41
Aspartylglucosaminuria among Palestinian Arabs. (9427148)
1997
42
Bone-marrow transplantation in aspartylglucosaminuria. (9149703)
1997
43
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. (9137882)
1997
44
Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation. (9309520)
1997
45
DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices. (8787695)
1996
46
Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay. (7813081)
1995
47
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene. (7627186)
1995
48
Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer. (7548272)
1995
49
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. (8064811)
1994
50
Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease. (8312372)
1994

Variations for Aspartylglucosaminuria

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UniProtKB/Swiss-Prot genetic disease variations for Aspartylglucosaminuria:

70 (show all 12)
id Symbol AA change Variation ID SNP ID
1AGAp.Gly60AspVAR_005069rs121964907
2AGAp.Ser72ProVAR_005070rs121964909
3AGAp.Ala101ValVAR_005071rs121964908
4AGAp.Arg161GlnVAR_005072rs192195150
5AGAp.Cys163SerVAR_005073rs121964904
6AGAp.Gly302ArgVAR_005074rs121964905
7AGAp.Cys306ArgVAR_005075rs121964906
8AGAp.Gly100GluVAR_015428rs386833421
9AGAp.Phe135SerVAR_015429rs386833427
10AGAp.Gly252GluVAR_015430rs386833433
11AGAp.Gly252ArgVAR_015431rs386833432
12AGAp.Thr257IleVAR_015432rs386833434

Clinvar genetic disease variations for Aspartylglucosaminuria:

5 (show all 38)
id Gene Variation Type Significance SNP ID Assembly Location
1AGANM_ 000027.3(AGA): c.488G> C (p.Cys163Ser)SNVPathogenicrs121964904GRCh37Chr 4, 178359918: 178359918
2AGANM_ 000027.3(AGA): c.904G> A (p.Gly302Arg)SNVPathogenicrs121964905GRCh37Chr 4, 178354404: 178354404
3AGANM_ 000027.3(AGA): c.916T> C (p.Cys306Arg)SNVPathogenicrs121964906GRCh37Chr 4, 178354392: 178354392
4AGANM_ 000027.3(AGA): c.179G> A (p.Gly60Asp)SNVPathogenicrs121964907GRCh37Chr 4, 178361529: 178361529
5AGANM_ 000027.3(AGA): c.302C> T (p.Ala101Val)SNVPathogenic/ Likely pathogenicrs121964908GRCh37Chr 4, 178360822: 178360822
6AGANM_ 000027.3(AGA): c.102_ 108delGCCCTTT (p.Trp34Terfs)deletionPathogenic/ Likely pathogenicrs386833417GRCh37Chr 4, 178363422: 178363428
7AGANM_ 000027.3(AGA): c.800dupT (p.Pro268Alafs)duplicationPathogenic/ Likely pathogenicrs386833436GRCh37Chr 4, 178355542: 178355542
8AGANM_ 000027.3(AGA): c.127_ 127+1insATGCGG (p.42_ 43insAspAla)insertionPathogenic/ Likely pathogenicrs386833418GRCh37Chr 4, 178363402: 178363403
9AGANM_ 000027.3(AGA): c.807_ 940del134SNVPathogenic/ Likely pathogenicrs386833437GRCh38Chr 4, 177433213: 177433213
10AGANM_ 000027.3(AGA): c.800delT (p.Leu267Argfs)deletionPathogenicrs794728009GRCh37Chr 4, 178355542: 178355542
11AGANM_ 000027.3(AGA): c.214T> C (p.Ser72Pro)SNVPathogenicrs121964909GRCh37Chr 4, 178361494: 178361494
12AGANM_ 000027.3(AGA): c.319C> T (p.Arg107Ter)SNVPathogenicrs765070743GRCh37Chr 4, 178360805: 178360805
13AGANM_ 000027.3(AGA): c.473G> A (p.Trp158Ter)SNVLikely pathogenicrs745976989GRCh37Chr 4, 178359933: 178359933
14AGANM_ 000027.3(AGA): c.127+1G> ASNVLikely pathogenicrs1057516565GRCh37Chr 4, 178363402: 178363402
15AGANM_ 000027.3(AGA): c.537C> A (p.Cys179Ter)SNVLikely pathogenicrs748171793GRCh38Chr 4, 177437490: 177437490
16AGANM_ 000027.3(AGA): c.1A> G (p.Met1Val)SNVLikely pathogenicrs1054938291GRCh37Chr 4, 178363529: 178363529
17AGANM_ 000027.3(AGA): c.28delC (p.Leu10Phefs)deletionLikely pathogenicrs1057517062GRCh38Chr 4, 177442348: 177442348
18AGANM_ 000027.3(AGA): c.698+1G> TSNVLikely pathogenicrs1057517175GRCh37Chr 4, 178357429: 178357429
19AGANM_ 000027.3(AGA): c.333delT (p.Ile112Leufs)deletionLikely pathogenicrs1057517223GRCh38Chr 4, 177439637: 177439637
20AGANM_ 000027.3(AGA): c.70delT (p.Ser24Profs)deletionLikely pathogenicrs1057517239GRCh38Chr 4, 177442306: 177442306
21AGANM_ 000027.3(AGA): c.490C> T (p.Gln164Ter)SNVLikely pathogenicrs1057517329GRCh38Chr 4, 177438762: 177438762
22AGANM_ 000027.3(AGA): c.192T> A (p.Cys64Ter)SNVLikely pathogenicrs386833419GRCh37Chr 4, 178361516: 178361516
23AGANM_ 000027.3(AGA): c.200_ 201delAG (p.Glu67Alafs)deletionPathogenic/ Likely pathogenicrs386833420GRCh37Chr 4, 178361507: 178361508
24AGANM_ 000027.3(AGA): c.299G> A (p.Gly100Glu)SNVLikely pathogenicrs386833421GRCh37Chr 4, 178360825: 178360825
25AGANM_ 000027.3(AGA): c.336delT (p.Ile112Metfs)deletionLikely pathogenicrs386833422GRCh37Chr 4, 178360788: 178360788
26AGANM_ 000027.3(AGA): c.346C> T (p.Arg116Trp)SNVLikely pathogenicrs386833423GRCh37Chr 4, 178360778: 178360778
27AGANM_ 000027.3(AGA): c.369_ 373delACACA (p.His124Thrfs)deletionLikely pathogenicrs386833424GRCh37Chr 4, 178360751: 178360755
28AGANM_ 000027.3(AGA): c.373_ 376delACAC (p.Thr125Phefs)deletionLikely pathogenicrs386833425GRCh37Chr 4, 178360748: 178360751
29AGANM_ 000027.3(AGA): c.395-8A> GSNVLikely pathogenicrs386833426GRCh38Chr 4, 177438865: 177438865
30AGANM_ 000027.3(AGA): c.404T> C (p.Phe135Ser)SNVLikely pathogenicrs386833427GRCh38Chr 4, 177438848: 177438848
31AGANM_ 000027.3(AGA): c.439T> C (p.Ser147Pro)SNVLikely pathogenicrs386833428GRCh37Chr 4, 178359967: 178359967
32AGANM_ 000027.3(AGA): c.44T> G (p.Leu15Arg)SNVLikely pathogenicrs386833429GRCh37Chr 4, 178363486: 178363486
33AGANM_ 000027.3(AGA): c.503G> A (p.Trp168Ter)SNVLikely pathogenicrs386833430GRCh37Chr 4, 178359903: 178359903
34AGANM_ 000027.3(AGA): c.677G> A (p.Gly226Asp)SNVPathogenic/ Likely pathogenicrs386833431GRCh37Chr 4, 178357451: 178357451
35AGANM_ 000027.3(AGA): c.754G> C (p.Gly252Arg)SNVLikely pathogenicrs386833432GRCh37Chr 4, 178355588: 178355588
36AGANM_ 000027.3(AGA): c.755G> A (p.Gly252Glu)SNVLikely pathogenicrs386833433GRCh37Chr 4, 178355587: 178355587
37AGANM_ 000027.3(AGA): c.770C> T (p.Thr257Ile)SNVLikely pathogenicrs386833434GRCh37Chr 4, 178355572: 178355572
38AGANM_ 000027.3(AGA): c.788delT (p.Leu263Terfs)deletionLikely pathogenicrs386833435GRCh37Chr 4, 178355554: 178355554

Expression for genes affiliated with Aspartylglucosaminuria

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Search GEO for disease gene expression data for Aspartylglucosaminuria.

Pathways for genes affiliated with Aspartylglucosaminuria

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GO Terms for genes affiliated with Aspartylglucosaminuria

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

idNameGO IDScoreTop Affiliating Genes
1azurophil granule lumenGO:003557810.1AGA, CTSA
2lysosomal lumenGO:004320210.0CTSA, GAA
3lysosomeGO:00057648.1AGA, CTSA, GAA, NAGA

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

idNameGO IDScoreTop Affiliating Genes
1ethanol oxidationGO:000606910.2ADH1B, ADH1C
2neutrophil degranulationGO:00433128.9AGA, CTSA, GAA

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

idNameGO IDScoreTop Affiliating Genes
1alcohol dehydrogenase activity, zinc-dependentGO:000402410.2ADH1B, ADH1C
2hydrolase activity, acting on glycosyl bondsGO:00167989.5GAA, NAGA
3hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045539.1GAA, NAGA
4hydrolase activityGO:00167878.6AGA, CTSA, GAA, NAGA

Sources for Aspartylglucosaminuria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet