AGU
MCID: ASP002
MIFTS: 49

Aspartylglucosaminuria (AGU) malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories

Summaries for Aspartylglucosaminuria

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 lysosomal storage disease and neuronitis, and has symptoms including inguinal/inguinoscrotal/crural hernia, splenomegaly and hepatomegaly/liver enlargement (excluding storage disease). An important gene associated with Aspartylglucosaminuria is AGA (aspartylglucosaminidase). Affiliated tissues include bone, liver and skin.

Genetics Home Reference:22 Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.

Wikipedia:66 Aspartylglucosaminuria ( commonly referred to as AGU) is an inherited disease that is characterized by a... more...

Description from OMIM:48 208400

Aliases & Classifications for Aspartylglucosaminuria

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
aspartylglucosaminuria:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

aspartylglucosaminuria 9 10 44 22 48 11 50 63
aspartylglycosaminuria 9 44 21 23 22
aspartylglucosaminidase deficiency 9 22 50
glycosylasparaginase deficiency 9 44 22
aspartylglucosamidase deficiency 44 63
aga deficiency 44 22
aspartylglucosamidase deficiency 22
aspartylglucosaminidase 10
agu 44


External Ids:

Disease Ontology9 DOID:0050461
MeSH36 D054880
OMIM48 208400
MESH via Orphanet37 C538402, D054880
ICD10 via Orphanet27 E77.1
SNOMED-CT via Orphanet60 54954004
UMLS via Orphanet64 C0268225, C2931840

Related Diseases for Aspartylglucosaminuria

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Aspartylglucosaminuria:



Diseases related to aspartylglucosaminuria

Symptoms for Aspartylglucosaminuria

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

208400

Clinical features from OMIM:

208400

Symptoms:

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

Drugs & Therapeutics for Aspartylglucosaminuria

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Aspartylglucosaminuria

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21GeneTests, 23GTR
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Genetic tests related to Aspartylglucosaminuria:

id Genetic test Affiliating Genes
1 Aspartylglycosaminuria21 23 AGA

Anatomical Context for Aspartylglucosaminuria

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34MalaCards
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MalaCards organs/tissues related to Aspartylglucosaminuria:

34
Bone, Liver, Skin, Spleen, Thyroid, Eye, Bone marrow, Brain, Tongue, Kidney, Testes

Animal Models for Aspartylglucosaminuria or affiliated genes

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Publications for Aspartylglucosaminuria

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53PubMed
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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
Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria. (18568562)
2008
4
Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study. (16944277)
2006
5
Reduction in head size in patients with aspartylglucosaminuria. (16218917)
2005
6
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase. (15365992)
2004
7
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
8
Dysmorphic facial features in aspartylglucosaminuria patients and carriers. (15127757)
2004
9
Progressive nature of aspartylglucosaminuria. (12022293)
2002
10
Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients. (11174635)
2001
11
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. (11149613)
2000
12
Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development. (10444340)
1999
13
Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study. (10706021)
1999
14
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. (10353787)
1999
15
Origin of Finnish mutations causing aspartylglucosaminuria. (10783529)
1999
16
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. (9425233)
1998
17
Monitoring the CNS pathology in aspartylglucosaminuria mice. (9862638)
1998
18
Impaired oral health in patients with aspartylglucosaminuria. (9830648)
1998
19
Aspartylglucosaminuria in a Canadian family. (9627765)
1998
20
Characteristic dental arches and occlusion in patients with aspartylglucosaminuria. (9338856)
1997
21
Bone-marrow transplantation in aspartylglucosaminuria. (9149703)
1997
22
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. (9137882)
1997
23
Aspartylglucosaminuria among Palestinian Arabs. (9427148)
1997
24
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene. (7627186)
1995
25
Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions. (8518524)
1993
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
Follow-up in patients with aspartylglucosaminuria. Part II. Adaptive skills. (8338997)
1993
29
Early clinical symptoms and incidence of aspartylglucosaminuria in Finland. (8338996)
1993
30
Aspartylglucosaminuria (AGU): protein and gene structure of normal and mutated aspartylglucosaminidase. (8373629)
1993
31
Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease. (1301945)
1992
32
Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts. (1530592)
1992
33
Spectrum of mutations in aspartylglucosaminuria. (1722323)
1991
34
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. (1703489)
1991
35
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
36
Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient. (1879549)
1991
37
Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4. (1973404)
1990
38
Elevated levels of serum dolichol in aspartylglucosaminuria. (2402187)
1990
39
Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder. (3228136)
1988
40
Prenatal diagnosis and fetal pathology of aspartylglucosaminuria. (6507482)
1984
41
Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening. (6627685)
1983
42
Enzymatic diagnosis and carrier detection of aspartylglucosaminuria using blood samples. (1272639)
1976
43
Isolation of the liver N-aspartyl-beta-glucosaminidase in aspartylglucosaminuria. (942387)
1976
44
Aspartylglucosaminuria: psychomotor retardation masquerading as a mucopolysaccharidosis. (805826)
1975
45
Letter: Leukocyte function in aspartylglucosaminuria. (1185361)
1975
46
Picture of the Month. Aspartylglucosaminuria. (4821322)
1974
47
Aspartylglucosaminuria: deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents. (4765214)
1973
48
Aspartylglucosaminuria. I. Fine structural studies on liver, kidney and brain. (5044001)
1972
49
Aspartylglucosaminuria. II. Biochemical studies on brain, liver, kidney and spleen. (5044002)
1972
50
Aspartylglucosaminuria, clinical aspects. (5280254)
1970

Variations for Aspartylglucosaminuria

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Aspartylglucosaminuria:

65 (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

Clinvar genetic disease variations for Aspartylglucosaminuria:

1
id Gene Name Type Significance SNP ID Assembly Location
1AGANM_000027.3(AGA): c.904G> A (p.Gly302Arg)single nucleotide variantPathogenicrs121964905GRCh37Chr 4, 178354404: 178354404
2AGANM_000027.3(AGA): c.916T> C (p.Cys306Arg)single nucleotide variantPathogenicrs121964906GRCh37Chr 4, 178354392: 178354392
3AGANM_000027.3(AGA): c.179G> A (p.Gly60Asp)single nucleotide variantPathogenicrs121964907GRCh37Chr 4, 178361529: 178361529
4AGANM_000027.3(AGA): c.302C> T (p.Ala101Val)single nucleotide variantPathogenicrs121964908GRCh37Chr 4, 178360822: 178360822
5AGAAGA, 7-BP DEL, NT102deletionPathogenic
6AGANM_000027.3(AGA): c.800dupT (p.Pro268Alafs)duplicationLikely pathogenic, Pathogenicrs386833436GRCh37Chr 4, 178355541: 178355542
7AGANM_000027.3(AGA): c.127_127+1insATGCGG (p.42_43insAspAla)insertionLikely pathogenic, Pathogenicrs386833418GRCh37Chr 4, 178363402: 178363403
8AGAAGA, IVS8DS, G-T, +1single nucleotide variantPathogenic
9AGAAGA, 1-BP DEL, 800TdeletionPathogenic
10AGANM_000027.3(AGA): c.214T> C (p.Ser72Pro)single nucleotide variantPathogenicrs121964909GRCh37Chr 4, 178361494: 178361494

Expression for genes affiliated with Aspartylglucosaminuria

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2BioGPS, 16Gene 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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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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Sources for Aspartylglucosaminuria

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet