PedAM
Pediatric Disease Annotations & Medicines
| aspartylglucosaminuria | ||||
| Disease ID | 257 |
|---|---|
| Disease | aspartylglucosaminuria |
| Definition | A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood. |
| Synonym | aga deficiencies aga deficiency agu aspartylglucosamidase deficiencies aspartylglucosamidase deficiency aspartylglucosaminidase deficiency aspartylglucosaminuria (disorder) aspartylglucosaminuria [disease/finding] aspartylglucosaminurias aspartylglycosaminuria aspartylglycosaminurias aspartylglycosylaminase deficiency deficiencies, aga deficiencies, aspartylglucosamidase deficiency, aga deficiency, aspartylglucosamidase glycoasparaginases high urine aspartylglucosamine levels |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268225 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:28) 4074 | M6PR | DISEASES 1634 | DCN | DISEASES 410 | ARSA | DISEASES 4669 | NAGLU | DISEASES 2026 | ENO2 | DISEASES 175 | AGA | DISEASES 1356 | CP | DISEASES 127 | ADH4 | DISEASES 3073 | HEXA | DISEASES 285362 | SUMF1 | DISEASES 128 | ADH5 | DISEASES 2548 | GAA | DISEASES 125 | ADH1B | DISEASES 653499 | LGALS7B | DISEASES 3996 | LLGL1 | DISEASES 3052 | HCCS | DISEASES 633 | BGN | DISEASES 3916 | LAMP1 | DISEASES 682 | BSG | DISEASES 5493 | PPL | DISEASES 617 | BCS1L | DISEASES 1201 | CLN3 | DISEASES 10500 | SEMA6C | DISEASES 5476 | CTSA | DISEASES 1203 | CLN5 | DISEASES 3963 | LGALS7 | DISEASES 4668 | NAGA | DISEASES 5538 | PPT1 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) AGA | 4q34.3 |
| Disease ID | 257 |
|---|---|
| Disease | aspartylglucosaminuria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:43) HP:0003103 | Abnormal cortical bone morphology HP:0100729 | Large face HP:0000158 | Macroglossia HP:0000389 | Chronic otitis media HP:0000708 | Behavioral abnormality HP:0000164 | Abnormality of the teeth HP:0100660 | Dyskinesia HP:0000670 | Carious teeth HP:0001763 | Pes planus HP:0000750 | Delayed speech and language development HP:0008430 | Anterior beaking of lumbar vertebrae HP:0001744 | Splenomegaly HP:0003196 | Short nose HP:0004337 | Abnormality of amino acid metabolism HP:0008551 | Microtia HP:0011276 | Vascular skin abnormality HP:0001250 | Seizures HP:0000053 | Macroorchidism HP:0002997 | Abnormality of the ulna HP:0012471 | Thick vermilion border HP:0000280 | Coarse facial features HP:0000431 | Wide nasal bridge HP:0002240 | Hepatomegaly HP:0000316 | Hypertelorism HP:0001999 | Abnormal facial shape HP:0000768 | Pectus carinatum HP:0002684 | Thickened calvaria HP:0002167 | Neurological speech impairment HP:0001369 | Arthritis HP:0002024 | Malabsorption HP:0004568 | Beaking of vertebral bodies HP:0000023 | Inguinal hernia HP:0012068 | Aspartylglucosaminuria HP:0002205 | Recurrent respiratory infections HP:0000303 | Mandibular prognathia HP:0002650 | Scoliosis HP:0000212 | Gingival overgrowth HP:0002360 | Sleep disturbance HP:0001537 | Umbilical hernia HP:0001249 | Intellectual disability HP:0001387 | Joint stiffness HP:0002750 | Delayed skeletal maturation HP:0003468 | Abnormality of the vertebrae |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 257 |
|---|---|
| Disease | aspartylglucosaminuria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:29) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121964904 | 2011603 | 175 | AGA | umls:C0268225 | UNIPROT | Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase. | 0.570314791 | 1991 | AGA | 4 | 177438764 | C | G |
| rs121964905 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177433250 | C | T |
| rs121964906 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177433238 | A | G |
| rs121964907 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177440375 | C | T |
| rs121964908 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177439668 | G | A |
| rs121964909 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177440340 | A | G |
| rs192195150 | 2011603 | 175 | AGA | umls:C0268225 | UNIPROT | Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase. | 0.570314791 | 1991 | AGA | 4 | 177438770 | C | T |
| rs386833417 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177442268 | AAAGGGC | - |
| rs386833418 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177442248 | - | CCGCAT |
| rs386833419 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177440362 | A | T |
| rs386833420 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177440353 | CT | - |
| rs386833421 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177439671 | C | T |
| rs386833422 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177439634 | A | - |
| rs386833423 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177439624 | G | A |
| rs386833424 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177439597 | TGTGT | - |
| rs386833425 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177439594 | GTGT | - |
| rs386833426 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177438865 | T | C |
| rs386833427 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177438848 | A | G |
| rs386833428 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177438813 | A | G |
| rs386833429 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177442332 | A | C |
| rs386833430 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177438749 | C | T |
| rs386833431 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177436297 | C | T |
| rs386833432 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177434434 | C | G |
| rs386833433 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177434433 | C | T |
| rs386833434 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177434418 | G | A |
| rs386833435 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177434400 | A | - |
| rs386833436 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177434387 | - | A |
| rs386833437 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177433213 | C | A |
| rs794728009 | NA | 175 | AGA | umls:C0268225 | CLINVAR | NA | 0.570314791 | NA | AGA | 4 | 177434388 | A | - |
GWASdb Annotation(Total Genotypes:2) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 4 | 178353046 | rs3805167 | NM_000027,AGA | NM_001171988,AGA | NR_033655,AGA | ENST00000446519,ENSG00000038002 | ENST00000264595,ENSG00000038002 | NA | NA | chr4,178350001,178360000,chr4,159390001,159400000,4,Hi-C | chr4,178350001,178360000,chr6,169630001,169640000,7,Hi-C | chr4,178350001,178360000,chr8,54370001,54380000,8,Hi-C | NA | Bas1-primary,13.6942 | Hlx1_2350,3.165 | Pou2f2_3748,1.8447 | Pou2f3_3986,2.1057 | Rtg3-primary,1.7126 | NA | NA | NA | NA | NA | NA | 0.000 | -0.097 | -0.222 | GE0 | G | NA | NA | NA | NA | NA | NA | NA | NA |
| 4 | 178359719 | rs2271101 | NM_000027,AGA | NM_001171988,AGA | NR_033655,AGA | ENST00000446519,ENSG00000038002 | ENST00000264595,ENSG00000038002 | ENST00000502310,ENSG00000038002 | ENST00000506853,ENSG00000038002 | ENST00000510635,ENSG00000038002 | ENST00000510955,ENSG00000038002 | MCV-1 | NA | chr4,178350001,178360000,chr4,159390001,159400000,4,Hi-C | chr4,178350001,178360000,chr6,169630001,169640000,7,Hi-C | chr4,178350001,178360000,chr8,54370001,54380000,8,Hi-C | NA | Aft1-primary,25.3339 | Asg1-DBD-primary,1.45 | Cgd2_3490,1.3486 | Gat4-primary,6.7774 | Pbf2-primary,1.6544 | NA | NA | NA | NA | NA | NA | 0.000 | -0.442 | -1.73 | GE1 | G | NA | NA | NA | NA |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |