AGU
MCID: ASP002
MIFTS: 50

Aspartylglucosaminuria (AGU) malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases categories
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Summaries for Aspartylglucosaminuria

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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 based summary: Aspartylglucosaminuria, also known as aspartylglycosaminuria, is related to lysosomal storage disease and arthritis, and has symptoms including facial dysmorphism, large face and hypertelorism. An important gene associated with Aspartylglucosaminuria is AGA (aspartylglucosaminidase). Affiliated tissues include bone, liver and skin.

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

Wikipedia:65 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, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 20GeneTests, 22GTR, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Aspartylglucosaminuria, Aliases & Descriptions:

Name: Aspartylglucosaminuria 8 9 42 21 46 10 48 62
Aspartylglycosaminuria 8 42 20 22 21
Aspartylglucosaminidase Deficiency 8 21 48
Glycosylasparaginase Deficiency 8 42 21
Aspartylglucosamidase Deficiency 42 62
 
Aspartylglucosamidase Deficiency 21 62
Aga Deficiency 42 21
Agu 42 62
Aspartylglucosaminidase 9


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:0050461
MeSH34 D054880
OMIM46 208400
MESH via Orphanet35 C538402, D054880
ICD10 via Orphanet26 E77.1
UMLS via Orphanet63 C0268225, C2931840

Related Diseases for Aspartylglucosaminuria

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Graphical network of diseases related to Aspartylglucosaminuria:



Diseases related to aspartylglucosaminuria

Symptoms for Aspartylglucosaminuria

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Symptoms by clinical synopsis from OMIM:

208400

Clinical features from OMIM:

208400

Symptoms:

48 (show all 41)
  • facial dysmorphism
  • large face
  • hypertelorism
  • prognathism/prognathia
  • broad nose/nasal bridge
  • short/small nose
  • thick lips
  • thickened/hypertrophic/fibromatous gingivae
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • scoliosis
  • umbilical hernia
  • storage liver disease
  • hyperkinesia/dyskinesia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • metabolic anomalies
  • autosomal recessive inheritance
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • coarse face
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • 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
  • chronic/relapsing otitis
  • inguinal/inguinoscrotal/crural hernia
  • flat foot
  • vascular anomalies of skin/mucosae
  • malabsorption/chronic diarrhea/steatorrhea
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • 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

HPO human phenotypes related to Aspartylglucosaminuria:

(show all 76)
id Description Frequency HPO Source Accession
1 thick lower lip vermilion hallmark (90%) HP:0000179
2 gingival overgrowth hallmark (90%) HP:0000212
3 mandibular prognathia hallmark (90%) HP:0000303
4 hypertelorism hallmark (90%) HP:0000316
5 abnormality of the outer ear hallmark (90%) HP:0000356
6 umbilical hernia hallmark (90%) HP:0001537
7 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
8 neurological speech impairment hallmark (90%) HP:0002167
9 scoliosis hallmark (90%) HP:0002650
10 short nose hallmark (90%) HP:0003196
11 abnormality of movement hallmark (90%) HP:0100022
12 cognitive impairment hallmark (90%) HP:0100543
13 large face hallmark (90%) HP:0100729
14 macroorchidism typical (50%) HP:0000053
15 abnormality of the tongue typical (50%) HP:0000157
16 coarse facial features typical (50%) HP:0000280
17 carious teeth typical (50%) HP:0000670
18 pectus carinatum typical (50%) HP:0000768
19 abnormality of the ulna typical (50%) HP:0002997
20 abnormal cortical bone morphology typical (50%) HP:0003103
21 abnormal form of the vertebral bodies typical (50%) HP:0003312
22 craniofacial hyperostosis typical (50%) HP:0004493
23 otitis media occasional (7.5%) HP:0000388
24 seizures occasional (7.5%) HP:0001250
25 arthritis occasional (7.5%) HP:0001369
26 limitation of joint mobility occasional (7.5%) HP:0001376
27 splenomegaly occasional (7.5%) HP:0001744
28 pes planus occasional (7.5%) HP:0001763
29 malabsorption occasional (7.5%) HP:0002024
30 recurrent respiratory infections occasional (7.5%) HP:0002205
31 hepatomegaly occasional (7.5%) HP:0002240
32 sleep disturbance occasional (7.5%) HP:0002360
33 autosomal recessive inheritance HP:0000007
34 macroorchidism HP:0000053
35 wide mouth HP:0000154
36 macroglossia HP:0000158
37 thick lower lip vermilion HP:0000179
38 brachycephaly HP:0000248
39 microcephaly HP:0000252
40 coarse facial features HP:0000280
41 broad face HP:0000283
42 anteverted nares HP:0000463
43 cataract HP:0000518
44 delayed speech and language development HP:0000750
45 platyspondyly HP:0000926
46 dysostosis multiplex HP:0000943
47 acne HP:0001061
48 angiokeratoma corporis diffusum HP:0001071
49 intellectual disability HP:0001249
50 seizures HP:0001250
51 muscular hypotonia HP:0001252
52 spasticity HP:0001257
53 joint laxity HP:0001388
54 hoarse voice HP:0001609
55 mitral regurgitation HP:0001653
56 neutropenia HP:0001875
57 vacuolated lymphocytes HP:0001922
58 abnormality of metabolism/homeostasis HP:0001939
59 diarrhea HP:0002014
60 cerebral atrophy HP:0002059
61 recurrent respiratory infections HP:0002205
62 hepatomegaly HP:0002240
63 developmental regression HP:0002376
64 scoliosis HP:0002650
65 thickened calvaria HP:0002684
66 hypoplastic frontal sinuses HP:0002738
67 delayed skeletal maturation HP:0002750
68 pathologic fracture HP:0002756
69 kyphosis HP:0002808
70 spondylolisthesis HP:0003302
71 spondylolysis HP:0003304
72 short stature HP:0004322
73 beaking of vertebral bodies HP:0004568
74 depressed nasal bridge HP:0005280
75 aspartylglucosaminuria HP:0012068
76 hernia HP:0100790

Drugs & Therapeutics for Aspartylglucosaminuria

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Drug clinical trials:

Search ClinicalTrials for Aspartylglucosaminuria

Search NIH Clinical Center for Aspartylglucosaminuria

Genetic Tests for Aspartylglucosaminuria

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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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MalaCards organs/tissues related to Aspartylglucosaminuria:

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

Animal Models for Aspartylglucosaminuria or affiliated genes

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Publications for Aspartylglucosaminuria

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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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UniProtKB/Swiss-Prot genetic disease variations for Aspartylglucosaminuria:

64 (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:

6 (show all 29)
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 pathogenicrs386833436GRCh37Chr 4, 178355541: 178355542
7AGANM_000027.3(AGA): c.127_127+1insATGCGG (p.42_43insAspAla)insertionLikely 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
11AGANM_000027.3(AGA): c.102_108delGCCCTTT (p.Trp34Terfs)deletionLikely pathogenicrs386833417GRCh37Chr 4, 178363422: 178363428
12AGANM_000027.3(AGA): c.192T> A (p.Cys64Ter)single nucleotide variantLikely pathogenicrs386833419GRCh37Chr 4, 178361516: 178361516
13AGANM_000027.3(AGA): c.200_201delAG (p.Glu67Alafs)deletionLikely pathogenicrs386833420GRCh37Chr 4, 178361507: 178361508
14AGANM_000027.3(AGA): c.299G> A (p.Gly100Glu)single nucleotide variantLikely pathogenicrs386833421GRCh37Chr 4, 178360825: 178360825
15AGANM_000027.3(AGA): c.336delT (p.Ile112Metfs)deletionLikely pathogenicrs386833422GRCh37Chr 4, 178360788: 178360788
16AGANM_000027.3(AGA): c.346C> T (p.Arg116Trp)single nucleotide variantLikely pathogenicrs386833423GRCh38Chr 4, 177439624: 177439624
17AGANM_000027.3(AGA): c.369_373delACACA (p.His124Thrfs)deletionLikely pathogenicrs386833424GRCh37Chr 4, 178360751: 178360755
18AGANM_000027.3(AGA): c.373_376delACAC (p.Thr125Phefs)deletionLikely pathogenicrs386833425GRCh37Chr 4, 178360748: 178360751
19AGANM_000027.3(AGA): c.395-8A> Gsingle nucleotide variantLikely pathogenicrs386833426GRCh37Chr 4, 178360019: 178360019
20AGANM_000027.3(AGA): c.404T> C (p.Phe135Ser)single nucleotide variantLikely pathogenicrs386833427GRCh37Chr 4, 178360002: 178360002
21AGANM_000027.3(AGA): c.439T> C (p.Ser147Pro)single nucleotide variantLikely pathogenicrs386833428GRCh37Chr 4, 178359967: 178359967
22AGANM_000027.3(AGA): c.44T> G (p.Leu15Arg)single nucleotide variantLikely pathogenicrs386833429GRCh37Chr 4, 178363486: 178363486
23AGANM_000027.3(AGA): c.503G> A (p.Trp168Ter)single nucleotide variantLikely pathogenicrs386833430GRCh37Chr 4, 178359903: 178359903
24AGANM_000027.3(AGA): c.677G> A (p.Gly226Asp)single nucleotide variantLikely pathogenicrs386833431GRCh37Chr 4, 178357451: 178357451
25AGANM_000027.3(AGA): c.754G> C (p.Gly252Arg)single nucleotide variantLikely pathogenicrs386833432GRCh37Chr 4, 178355588: 178355588
26AGANM_000027.3(AGA): c.755G> A (p.Gly252Glu)single nucleotide variantLikely pathogenicrs386833433GRCh37Chr 4, 178355587: 178355587
27AGANM_000027.3(AGA): c.770C> T (p.Thr257Ile)single nucleotide variantLikely pathogenicrs386833434GRCh37Chr 4, 178355572: 178355572
28AGANM_000027.3(AGA): c.788delT (p.Leu263Terfs)deletionLikely pathogenicrs386833435GRCh37Chr 4, 178355554: 178355554
29AGANM_000027.3(AGA): c.940+1G> Tsingle nucleotide variantLikely pathogenicrs386833437GRCh37Chr 4, 178354367: 178354367

Expression for genes affiliated with Aspartylglucosaminuria

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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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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet