AGU
MCID: ASP002
MIFTS: 43

Aspartylglucosaminuria (AGU) malady

Neuronal, Bone, Metabolic, Fetal categories

Summaries for Aspartylglucosaminuria

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 arthritis, and has symptoms including hypertelorism, autosomal recessive inheritance and large face. An important gene associated with Aspartylglucosaminuria is AGA (aspartylglucosaminidase), and among its related pathways is Lysosome. Affiliated tissues include skin, liver and brain.

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

Wikipedia:64 Aspartylglucosaminuria ( commonly referred to as AGU) is an inherited disease that is characterized by a... more...

Description from OMIM:47 208400

Aliases & Classifications for Aspartylglucosaminuria

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 20GeneTests, 22GTR, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
aspartylglucosaminuria:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

aspartylglucosaminuria 8 9 43 21 47 10 49 61
aspartylglycosaminuria 8 43 20 22 21
aspartylglucosaminidase deficiency 8 21 49
glycosylasparaginase deficiency 8 43 21
aspartylglucosamidase deficiency 43 61
aga deficiency 43 21
aspartylglucosamidase deficiency 21
aspartylglucosaminidase 9
agu 43


External Ids:

Disease Ontology8 DOID:0050461
OMIM47 208400
MeSH35 D054880
MESH via Orphanet36 C538402, D054880
ICD10 via Orphanet26 E77.1
SNOMED-CT via Orphanet58 54954004
UMLS via Orphanet62 C0268225, C2931840

Related Diseases for Aspartylglucosaminuria

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Aspartylglucosaminuria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis30.1AGA
2arthritis10.1
3salla disease10.0
4splenomegaly10.0
5gaucher's disease10.0
6metachromatic leukodystrophy10.0
7adrenoleukodystrophy10.0
8n syndrome10.0
9angiokeratoma10.0
10autosomal recessive disease10.0
11infantile neuronal ceroid lipofuscinosis10.0
12seizure disorder10.0
13startle epilepsy10.0
14neuronal ceroid lipofuscinosis10.0MFSD8

Graphical network of diseases related to Aspartylglucosaminuria:



Diseases related to aspartylglucosaminuria

Clinical Features for Aspartylglucosaminuria

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

208400

Clinical synopsis from OMIM:

208400

Symptoms:

49 (show all 41)
  • hypertelorism
  • autosomal recessive inheritance
  • large face
  • scoliosis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • sleep and vigilance disorders
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • coarse face
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • storage liver disease
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • thickened/hypertrophic/fibromatous gingivae
  • chronic/relapsing otitis
  • inguinal/inguinoscrotal/crural hernia
  • psychic/behavioural troubles
  • prognathism/prognathia
  • repeat respiratory infections
  • arthritis/synovitis/synovial proliferation
  • facial dysmorphism
  • broad nose/nasal bridge
  • short/small nose
  • thick lips
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • umbilical hernia
  • hyperkinesia/dyskinesia
  • 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

Drugs & Therapeutics for Aspartylglucosaminuria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Aspartylglucosaminuria

Drug clinical trials:

Search ClinicalTrials for Aspartylglucosaminuria

Search NIH Clinical Center for Aspartylglucosaminuria

Search CenterWatch for Aspartylglucosaminuria

Genetic Tests for Aspartylglucosaminuria

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Aspartylglucosaminuria:

id Genetic test Affiliating Genes
1 Aspartylglycosaminuria20 22 AGA

Anatomical Context for Aspartylglucosaminuria

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Aspartylglucosaminuria:

33
Skin, Liver, Brain, Kidney, Spleen, Bone marrow, Thyroid, Fetal brain, Fetal liver

Animal Models for Aspartylglucosaminuria or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Aspartylglucosaminuria

Sources:
51PubMed
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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
Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria. (18568562)
2008
3
Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study. (16944277)
2006
4
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase. (15365992)
2004
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
Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors. (15316370)
2004
8
Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis. (11796409)
2002
9
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. (11309371)
2001
10
Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study. (10706021)
1999
11
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. (10353787)
1999
12
Origin of Finnish mutations causing aspartylglucosaminuria. (10783529)
1999
13
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. (9425233)
1998
14
Impaired oral health in patients with aspartylglucosaminuria. (9830648)
1998
15
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse. (9930336)
1998
16
Chronic arthritis in patients with aspartylglucosaminuria. (9632076)
1998
17
Characteristic dental arches and occlusion in patients with aspartylglucosaminuria. (9338856)
1997
18
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. (9137882)
1997
19
DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices. (8787695)
1996
20
Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer. (7548272)
1995
21
Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay. (7813081)
1995
22
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. (8064811)
1994
23
Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions. (8518524)
1993
24
Epileptic seizures in aspartylglucosaminuria: a common disorder. (8333236)
1993
25
Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria. (8127068)
1993
26
Follow-up in patients with aspartylglucosaminuria. Part II. Adaptive skills. (8338997)
1993
27
Aspartylglucosaminuria (AGU): protein and gene structure of normal and mutated aspartylglucosaminidase. (8373629)
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
Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts. (1530592)
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
Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient. (1879549)
1991
34
In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation. (1765378)
1991
35
First-trimester prenatal diagnosis of aspartylglucosaminuria. (2798347)
1989
36
Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder. (3228136)
1988
37
Prenatal diagnosis and fetal pathology of aspartylglucosaminuria. (6507482)
1984
38
Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening. (6627685)
1983
39
Aspartylglucosaminuria in the United States. (6883788)
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: psychomotor retardation masquerading as a mucopolysaccharidosis. (805826)
1975
43
Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts. (4464238)
1974
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
Eleven new cases of aspartylglucosaminuria. (5512217)
1970

Genetic Variations for Aspartylglucosaminuria

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Aspartylglucosaminuria:

63 (show all 12)
id Symbol AA change Variation 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

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

Search GEO for disease gene expression data for Aspartylglucosaminuria.

Pathways for genes affiliated with Aspartylglucosaminuria

Sources:
30KEGG
See all sources

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

GO Terms for genes affiliated with Aspartylglucosaminuria

Products for genes affiliated with Aspartylglucosaminuria

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Aspartylglucosaminuria

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet