eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mucopolysaccharidosis iii | ||||
| Disease ID | 1075 |
|---|---|
| Disease | mucopolysaccharidosis iii |
| Definition | Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme. |
| Synonym | mps 3 mps iii mucopolysaccharidosis 3 mucopolysaccharidosis iii [disease/finding] mucopolysaccharidosis iiis mucopolysaccharidosis type iii mucopolysaccharidosis, mps-iii oligophrenia, polydystrophic oligophrenias, polydystrophic polydystrophic oligophrenia polydystrophic oligophrenias san filippo syndrome san filippo's syndrome san filippos syndrome sanfilippo disease sanfilippo syndrome sanfilippo syndrome (disorder) sanfilippo syndrome, nos sanfilippo syndromes sanfilippo's syndrome sanfilippos syndrome syndrome, san filippo's syndrome, sanfilippo syndrome, sanfilippo's syndromes, sanfilippo |
| Orphanet | |
| DOID | |
| UMLS | C0026706 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0027765 | neurological disorders | 2 C0027765 | neurological disorder | 2 C0042075 | urological disorders | 2 C0026266 | mitral regurgitation | 1 C0018418 | gynecomastia | 1 C0037317 | sleep disturbance | 1 C0006111 | brain disease | 1 C0037317 | sleep disturbances | 1 C0011570 | depression | 1 C0007682 | cns disease | 1 C0007682 | cns diseases | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:21) 10142 | AKAP9 | 2.497 | DISEASES 347527 | ARSH | 4.795 | DISEASES 2583 | B4GALNT1 | 2.707 | DISEASES 682 | BSG | 1.001 | DISEASES 1103 | CHAT | 1.04 | DISEASES 1719 | DHFR | 1.465 | DISEASES 80331 | DNAJC5 | 2.497 | DISEASES 2596 | GAP43 | 1.624 | DISEASES 2801 | GOLGA2 | 4.263 | DISEASES 2262 | GPC5 | 2.549 | DISEASES 138050 | HGSNAT | 5.246 | DISEASES 3109 | HLA-DMB | 2.051 | DISEASES 3481 | IGF2 | 1.232 | DISEASES 3482 | IGF2R | 1.601 | DISEASES 3684 | ITGAM | 1.199 | DISEASES 3916 | LAMP1 | 2.42 | DISEASES 5601 | MAPK9 | 1.324 | DISEASES 10724 | MGEA5 | 1.709 | DISEASES 1482 | NKX2-5 | 1.424 | DISEASES 10577 | NPC2 | 1.841 | DISEASES 8838 | WISP3 | 2.325 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1075 |
|---|---|
| Disease | mucopolysaccharidosis iii |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0006827 | Degeneration of the spinal cord | 1 HP:0000924 | Abnormality of the skeletal system | 1 HP:0001653 | Mitral valve insufficiency | 1 HP:0001268 | Mental deterioration | 1 HP:0002664 | Neoplasia | 1 HP:0100556 | Hemiatrophy of the body | 1 HP:0002344 | Progressive neurologic deterioration | 1 HP:0000716 | Depression | 1 HP:0000771 | Gynaecomastia | 1 HP:0002360 | Sleep disturbance | 1 HP:0000750 | Late-onset speech development | 1 HP:0000708 | Behavioral problems | 1 HP:0000729 | Pervasive developmental disorder | 1 |
| Disease ID | 1075 |
|---|---|
| Disease | mucopolysaccharidosis iii |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1963091 | diarrhea |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894592 | 11068184 | 4669 | NAGLU | umls:C0026706 | BeFree | This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome. | 0.122995792 | 2000 | NAGLU | 17 | 42541074 | C | T |
| rs104894599 | 11068184 | 4669 | NAGLU | umls:C0026706 | BeFree | This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome. | 0.122995792 | 2000 | NAGLU | 17 | 42536416 | C | A |
| rs118204024 | 11068184 | 4669 | NAGLU | umls:C0026706 | BeFree | This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome. | 0.122995792 | 2000 | NAGLU | 17 | 42536414 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (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.) |
| Disease ID | 1075 |
|---|---|
| Disease | mucopolysaccharidosis iii |
| Case | (Waiting for update.) |