AGU
MCID: ASP002
MIFTS: 53

Aspartylglucosaminuria (AGU) malady

Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases categories

Summaries for Aspartylglucosaminuria

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: Aspartylglucosaminuria, also known as aspartylglycosaminuria, is related to fucosidosis and neuronal ceroid lipofuscinosis, and has symptoms including metabolic anomalies, anomalies of teeth and dentition and multiple caries. An important gene associated with Aspartylglucosaminuria is AGA (aspartylglucosaminidase), and among its related pathways is Lysosome. Affiliated tissues include bone, liver and skin.

Genetics Home Reference:21 Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.

Wikipedia:63 Aspartylglucosaminuria ( commonly referred to as AGU) is an inherited disease that is characterized by a... more...

Description from OMIM:46 208400

Aliases & Classifications for Aspartylglucosaminuria

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
aspartylglucosaminuria:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

aspartylglucosaminuria 8 9 42 21 46 10 48 60
aspartylglycosaminuria 8 42 20 22 21
aspartylglucosaminidase deficiency 8 21 48
glycosylasparaginase deficiency 8 42 21
aspartylglucosamidase deficiency 42 60
aga deficiency 42 21
aspartylglucosamidase deficiency 21
aspartylglucosaminidase 9
agu 42


External Ids:

Disease Ontology8 DOID:0050461
OMIM46 208400
MeSH34 D054880
MESH via Orphanet35 C538402, D054880
ICD10 via Orphanet26 E77.1
SNOMED-CT via Orphanet57 54954004
UMLS via Orphanet61 C0268225, C2931840

Related Diseases for Aspartylglucosaminuria

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Aspartylglucosaminuria:



Diseases related to aspartylglucosaminuria

Clinical Features for Aspartylglucosaminuria

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46OMIM, 48Orphanet
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Clinical features from OMIM:

208400

Clinical synopsis from OMIM:

208400

Symptoms:

48 (show all 41)
  • metabolic anomalies
  • anomalies of teeth and dentition
  • multiple caries
  • pectus carinatum
  • abnormal vertebral size/shape
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • macroorchidism/macrotestes
  • cortical anomaly/thick bone cortical layer
  • flat foot
  • vascular anomalies of skin/mucosae
  • malabsorption/chronic diarrhea/steatorrhea
  • anomalies of bones/skeletal anomalies
  • restricted joint mobility/joint stiffness/ankylosis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperkinesia/dyskinesia
  • umbilical hernia
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • storage liver disease
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • coarse face
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • sleep and vigilance disorders
  • seizures/epilepsy/absences/spasms/status epilepticus
  • scoliosis
  • large face
  • autosomal recessive inheritance
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • thickened/hypertrophic/fibromatous gingivae
  • thick lips
  • short/small nose
  • broad nose/nasal bridge
  • facial dysmorphism
  • arthritis/synovitis/synovial proliferation
  • repeat respiratory infections
  • prognathism/prognathia
  • psychic/behavioural troubles
  • inguinal/inguinoscrotal/crural hernia
  • chronic/relapsing otitis
  • hypertelorism

Drugs & Therapeutics for Aspartylglucosaminuria

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Aspartylglucosaminuria

Search CenterWatch for Aspartylglucosaminuria

Genetic Tests for Aspartylglucosaminuria

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20GeneTests, 22GTR
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Genetic tests related to Aspartylglucosaminuria:

id Genetic test Affiliating Genes
1 Aspartylglycosaminuria20 22 AGA

Anatomical Context for Aspartylglucosaminuria

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32MalaCards
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MalaCards organs/tissues related to Aspartylglucosaminuria:

32
Bone, Liver, Skin, Spleen, Thyroid, Eye, Bone marrow, Brain, Tongue, Testes, Kidney

Animal Models for Aspartylglucosaminuria or affiliated genes

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Publications for Aspartylglucosaminuria

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50PubMed
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Articles related to Aspartylglucosaminuria:

(show top 50)    (show all 83)
idTitleAuthorsYear
1
Aspartylglucosaminuria: unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. (23271757)
2014
2
Sleep-related hypermotor seizures in aspartylglucosaminuria: a case report. (19175389)
2009
3
Structural basis of aspartylglucosaminuria. (18992224)
2008
4
Reduction in head size in patients with aspartylglucosaminuria. (16218917)
2005
5
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
6
Dysmorphic facial features in aspartylglucosaminuria patients and carriers. (15127757)
2004
7
Startle epilepsy complicating aspartylglucosaminuria. (15036433)
2004
8
Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors. (15316370)
2004
9
Progressive nature of aspartylglucosaminuria. (12022293)
2002
10
Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis. (11796409)
2002
11
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria. (12366426)
2002
12
Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland. (11360285)
2001
13
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. (11309371)
2001
14
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. (11149613)
2000
15
Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development. (10444340)
1999
16
Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study. (10706021)
1999
17
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. (10353787)
1999
18
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. (9425233)
1998
19
Monitoring the CNS pathology in aspartylglucosaminuria mice. (9862638)
1998
20
Impaired oral health in patients with aspartylglucosaminuria. (9830648)
1998
21
Aspartylglucosaminuria in a Canadian family. (9627765)
1998
22
Bone-marrow transplantation in aspartylglucosaminuria. (9149703)
1997
23
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. (9137882)
1997
24
Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer. (7548272)
1995
25
Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay. (7813081)
1995
26
Epileptic seizures in aspartylglucosaminuria: a common disorder. (8333236)
1993
27
Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria. (8127068)
1993
28
Prospects of carrier screening of aspartylglucosaminuria in Finland. (8081942)
1993
29
Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions. (8322015)
1993
30
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. (1559710)
1992
31
Spectrum of mutations in aspartylglucosaminuria. (1722323)
1991
32
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. (1703489)
1991
33
Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163-->Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits. (1904874)
1991
34
Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient. (1879549)
1991
35
In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation. (1765378)
1991
36
Elevated levels of serum dolichol in aspartylglucosaminuria. (2402187)
1990
37
First-trimester prenatal diagnosis of aspartylglucosaminuria. (2798347)
1989
38
Prenatal diagnosis and fetal pathology of aspartylglucosaminuria. (6507482)
1984
39
Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening. (6627685)
1983
40
Automated ion-exchange chromatography in the detection of aspartylglucosaminuria. (7391183)
1980
41
Enzymatic diagnosis and carrier detection of aspartylglucosaminuria using blood samples. (1272639)
1976
42
Aspartylglucosaminuria: unique biochemical and ultrastructural characteristics. (939543)
1976
43
Aspartylglucosaminuria: psychomotor retardation masquerading as a mucopolysaccharidosis. (805826)
1975
44
Aspartylglucosaminuria: deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents. (4765214)
1973
45
Aspartylglucosaminuria. I. Fine structural studies on liver, kidney and brain. (5044001)
1972
46
Aspartylglucosaminuria. II. Biochemical studies on brain, liver, kidney and spleen. (5044002)
1972
47
Studies on serum and urinary glycopeptides and glycosaminoglycans in aspartylglucosaminuria. (4257761)
1972
48
Biochemical and fine structural studies in aspartylglucosaminuria. (4663894)
1972
49
Biochemical and fine structural studies on brain and liver biopsies in aspartylglucosaminuria. (5167312)
1971
50
Aspartylglucosaminuria, clinical aspects. (5280254)
1970

Genetic Variations for Aspartylglucosaminuria

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Aspartylglucosaminuria:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1AGAp.Gly60AspVAR_005069
2AGAp.Ser72ProVAR_005070
3AGAp.Ala101ValVAR_005071
4AGAp.Arg161GlnVAR_005072rs192195150
5AGAp.Cys163SerVAR_005073rs121964904
6AGAp.Gly302ArgVAR_005074
7AGAp.Cys306ArgVAR_005075
8AGAp.Gly100GluVAR_015428
9AGAp.Phe135SerVAR_015429
10AGAp.Gly252GluVAR_015430
11AGAp.Gly252ArgVAR_015431
12AGAp.Thr257IleVAR_015432

Expression for genes affiliated with Aspartylglucosaminuria

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aspartylglucosaminuria

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Pathways for genes affiliated with Aspartylglucosaminuria

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29KEGG
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Pathways related to Aspartylglucosaminuria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0AGA, MFSD8

Compounds for genes affiliated with Aspartylglucosaminuria

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GO Terms for genes affiliated with Aspartylglucosaminuria

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Products for genes affiliated with Aspartylglucosaminuria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Aspartylglucosaminuria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet